Original Article
Germ-Line Mutations in Nonsyndromic Pheochromocytoma
N Engl J Med 2002; 346:1459-1466May 9, 2002
- Abstract
Background
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel–Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispose carriers to pheochromocytomas and glomus tumors. We used molecular tools to classify a large cohort of patients with pheochromocytoma with respect to the presence or absence of mutations of one of these four genes and to investigate the relevance of genetic analyses to clinical practice.
Methods
Peripheral blood from unrelated, consenting registry patients with pheochromocytoma was tested for mutations of RET, VHL, SDHD, and SDHB. Clinical data at first presentation and follow-up were evaluated.
Results
Among 271 patients who presented with nonsyndromic pheochromocytoma and without a family history of the disease, 66 (24 percent) were found to have mutations (mean age, 25 years; 32 men and 34 women). Of these 66, 30 had mutations of VHL, 13 of RET, 11 of SDHD, and 12 of SDHB. Younger age, multifocal tumors, and extraadrenal tumors were significantly associated with the presence of a mutation. However, among the 66 patients who were positive for mutations, only 21 had multifocal pheochromocytoma. Twenty-three (35 percent) presented after the age of 30 years, and 17 (8 percent) after the age of 40. Sixty-one (92 percent) of the patients with mutations were identified solely by molecular testing of VHL, RET, SDHD, and SDHB; these patients had no associated signs and symptoms at presentation.
Conclusions
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.
Media in This Article
Figure 1
Pheochromocytoma of the Left Adrenal Gland and Glomus Tumor of the Left Carotid Body in a Carrier of a Mutation of SDHD.Table 1
Age of the Patients and Type of Tumor at Presentation According to Genetic Status.Article Activity
- Article
It is becoming increasingly apparent that tumors of a single histologic type are heterogeneous in their natural history, prognosis, and response to treatment. Tumors such as pheochromocytomas and paragangliomas may also display important molecular differences and lend themselves to genetic analysis.
It is a widespread assumption that most pheochromocytomas are sporadic and only about 10 percent are hereditary.1 When hereditary, pheochromocytoma can be a component of multiple endocrine neoplasia type 2 (MEN-2), caused by mutations of the RET gene; von Hippel–Lindau disease, caused by mutations of the VHL gene; and, rarely, neurofibromatosis type 1.2-5 Recently, mutations of the gene for succinate dehydrogenase subunit D (SDHD) were identified for another related neuroendocrine disease, familial paragangliomas of the neck, or glomus tumors.6 SDHD and SDHB encode mitochondrial enzymes involved in oxidative phosphorylation.7 In a study by Heutink et al., all 38 affected members of five original families tested had neck paragangliomas, but none had pheochromocytomas.8,9 However, in our pilot study of pheochromocytomas from a small series comprising 17 unrelated patients with nonfamilial disease who showed no molecular or clinical evidence of MEN-2, von Hippel–Lindau disease, or neurofibromatosis type 1, we identified three unsuspected germ-line mutations of SDHD.10 In contrast, in a referral-based cohort of 19 patients with pheochromocytoma from Brazil, no mutations of SDHD were found.11 In 2001, mutations of SDHB were found in three of eight families with pheochromocytoma, paraganglioma, or both.12
Molecular medicine makes it possible to differentiate sporadic from hereditary disease, which will affect medical management not only for the patient but also for the family. This is particularly true for inherited tumor syndromes.13 In the present study, we analyzed the known susceptibility genes for pheochromocytoma — VHL, RET, SDHD, and SDHB — in a large, unselected series of registry patients who presented with this tumor in order to classify them as having either truly sporadic or hereditary disease. Those who had mutations could then be reclassified as having von Hippel–Lindau disease, MEN-2, or one of the syndromes associated with pheochromocytoma and paraganglioma. In addition, we evaluated mutation status in relation to a range of clinical features to determine which, if any, can predict hereditary disease.
Methods
Patients
Patients with pheochromocytomas have been consecutively registered in the population registries of Freiburg, Germany, and Warsaw, Poland, in accordance with the ethical standards of the respective countries. Two hundred ninety-eight consecutive, unrelated patients with histologically confirmed pheochromocytoma from whom blood-leukocyte DNA was available were enrolled. All patients provided written or oral informed consent. For the purposes of registration, all cases of pheochromocytoma were included except those discovered by clinical or genetic screening of persons without symptoms of illness, in order to minimize ascertainment bias toward hereditary cases. For the purposes of this study, we excluded 11 patients with neurofibromatosis type 1, since all these patients had classic cutaneous lesions and could be easily given a diagnosis of a syndromic condition without molecular genetic analyses. We further excluded 14 patients with a family history (9 with tumors related to von Hippel–Lindau disease, and 5 with tumors related to MEN-2). DNA samples were available from 70 percent of the patients in the Freiburg registry and 88 percent of the patients in the Warsaw registry. Thus, 271 eligible registrants entered our study.
Of the 271 patients, 241 presented with pheochromocytomas only, whereas 8 presented with both pheochromocytomas and functioning paragangliomas. Twenty-two presented with paragangliomas only. Paragangliomas that originate in the sympathetic nervous system are most commonly found in the retroperitoneum but can also occur in the thorax as catecholamine-secreting, “functioning” extraadrenal pheochromocytomas (and are frequently included in the term “pheochromocytomas,” which we use here). Paragangliomas that originate in the parasympathetic nervous system can occur adjacent to the aortic arch, neck, and skull base as local “nonfunctioning” masses, also called glomus tumors or chemodectomas. Unless the location of the tumor is germane, we will refer to our patients as presenting with pheochromocytoma.
Molecular Genetic Analyses
All eight exons of SDHB, all four exons of SDHD, all three exons of VHL, and exons 10, 11, and 13 through 16 of RET were examined by analysis of single-strand conformation polymorphisms and direct sequencing, as previously described.10,12,14-18
When a patient with a germ-line mutation was identified, his or her consenting parents were investigated for the presence of the mutation; this analysis enabled us to trace the disease and the mutation back to the previous generation. If neither parent carried the index patient's mutation, we confirmed paternity using standard microsatellite fingerprinting. Genomic DNA samples from 300 anonymous, healthy blood donors matched with the registry patients for race (white) and region were analyzed as controls.
Clinical Studies
One of us performed or reviewed the clinical evaluation (personal and family history and physical examination) and medical records (detailed personal and family history, physical examination, and biochemical imaging studies). Family history was also updated at the time of blood sampling; final updates of all clinical data were performed through December 1, 2001.
Patients who were clinically or genetically identified in the present study as having a hereditary pheochromocytoma syndrome underwent clinical evaluation and surveillance for MEN-2, von Hippel–Lindau disease, and syndromes associated with pheochromocytoma and paraganglioma. The clinical screening program included measurement of serum calcitonin levels after stimulation with pentagastrin and measurement of serum parathyroid hormone levels for MEN-2; magnetic resonance imaging (MRI) of the central nervous system, MRI or computed tomography (CT) of the abdomen, and retinoscopy for von Hippel–Lindau disease2; and MRI of the abdomen, thorax, and neck for syndromes associated with pheochromocytoma and paraganglioma. The clinical diagnosis of MEN-2 required the occurrence of pheochromocytoma and medullary thyroid carcinoma.4 In addition to pheochromocytoma at presentation, the diagnosis of von Hippel–Lindau disease required at least angioma of the retina or hemangioblastoma of the central nervous system in the index patient or a first-degree relative.19 The diagnosis of neurofibromatosis type 1 was made according to standard criteria.5
Pheochromocytomas were classified according to number (solitary or multiple), location (adrenal or extraadrenal), and pathological findings (benign or malignant). Distant metastases or infiltration of surrounding tissue was required to designate a pheochromocytoma as malignant.1
Statistical Analysis
For the comparison of rates from small samples, Fisher's (two-tailed) unpaired exact test was used; for larger groups, the standard two-sided chi-square test was used. P values less than 0.05 were considered to indicate statistical significance.
Results
A total of 271 patients (155 female and 116 male; age range, 4 to 81 years; mean age, 40 years) with nonsyndromic pheochromocytoma and without a family history of the disease were enrolled in the study. We identified 66 patients with deleterious germ-line mutations (24 percent); 13 had mutations of RET, 30 mutations of VHL, 11 mutations of SDHD, and 12 mutations of SDHB (Table 1Table 1
Age of the Patients and Type of Tumor at Presentation According to Genetic Status.).Frequency Distribution and Types of Mutations
Thirteen unrelated patients (5 percent) were found to have seven germ-line mutations of RET (Table 2Table 2
Germ-Line Mutations in the Four Genes Detected in the Series of Patients with Pheochromocytoma.). These were missense mutations, like the majority of mutations of RET associated with MEN-2 to date.21 Haplotype analysis to exclude a founder effect was inconclusive, but relatedness seemed unlikely on reevaluation of the family histories.The mutations of VHL in 30 patients (11 percent) comprised 3 nonsense and 19 missense mutations (Table 2). Among these 22 distinct mutations, 4 were novel. We had access to the DNA of both parents of four patients with diagnoses of pheochromocytoma (whose ages were 5, 7, 8, and 16 years). No genetic or clinical evidence of von Hippel–Lindau disease could be found in the parents, and microsatellite analysis at five different informative loci in the four families confirmed paternity. Thus, these four cases represent spontaneous germ-line mutations of VHL. Therefore, relationship of each carrier pair with the G490A and the G695A complementary DNA (cDNA) mutations (Table 2) has been excluded. The C712T cDNA mutation represents a well-known “hot spot,”22 and extensive pedigree evaluation makes it unlikely that the patients with the A680T cDNA mutation are related. It should be noted, however, that shared haplotypes usually denote ancient population-based founder effects instead of closer intermarriages that can be identified through the family history.
Eleven patients (4 percent of the 271) had seven different mutations of SDHD, three of which were novel (Table 2). Six mutations cause truncation of the putative protein, whereas one leads to a substitution of one amino acid. There were two different recurrent mutations. Haplotype analysis was inconclusive because of the small numbers, but pedigree information made relationship unlikely.
Twelve patients (4 percent) were found to have nine distinct, novel mutations of SDHB (Table 2). There were three recurrent mutations, none of which occurred in shared haplotypes; extensive pedigree evaluation also demonstrated that it was unlikely that any of the three carrier pairs were related.
None of the seven mutations of SDHD or the nine mutations of SDHB found in our patients were found in 600 control chromosomes from the 300 blood donors.
Clinical Presentation and Follow-up of Carriers
The age at the onset of symptoms was statistically lower in all carriers of mutations than in patients with sporadic disease, who were operationally defined as negative for mutations of any of the four susceptibility genes. Seventy percent of the patients who presented at the age of 10 or younger had germ-line mutations, and this percentage decreased steadily with increasing age to 0 percent among patients who presented after the age of 60 (Table 3Table 3
Age at Presentation of Patients with Mutations or Sporadic Disease.). However, 139 registrants presented with pheochromocytoma after the age of 40, 11 of whom had mutations (8 percent). Only five of these patients had clinical findings that retrospectively suggested a hereditary pheochromocytoma. Mutations of VHL were present in 42 percent of all those who presented at age 18 or younger (20 of 48) and 74 percent of all patients with mutations who presented at age 18 or younger (20 of 27); 77 percent of those found to have mutations of VHL presented before the age of 20 (Table 3). In contrast, 9 of the 23 patients found to have germ-line mutations of SDHD and SDHB (39 percent) presented after the age of 30.At initial presentation, 45 of 66 probands with mutations (68 percent) had only one tumor (Table 1). Multiple pheochromocytomas, however, were statistically more frequent among patients with mutations than among patients without mutations (21 of 66 [32 percent] vs. 5 of 205 [2 percent], P<0.001). However, multifocal tumors, as compared with solitary tumors, may be gene-specific: no patients with mutations of SDHB presented with multifocal disease, whereas 40 percent of those with mutations of VHL had multifocal disease. Twenty-eight percent of the patients with mutations of VHL, SDHD, and SDHB had extraadrenal tumors, as compared with 8 percent of patients without mutations (P=0.006).
We also identified classic syndrome-associated lesions at presentation and at final follow-up. Of 13 patients who were positive for mutations of RET, none had clinical evidence of medullary thyroid carcinoma at presentation, but medullary thyroid carcinoma developed in 12 during the follow-up period. Among 30 carriers of mutations of VHL, 5 also subsequently had other features associated with von Hippel–Lindau disease, such as hemangioblastoma of the central nervous system or eye, pancreatic cysts, islet-cell tumors, or renal-cell carcinomas, during follow-up. In total, 10 patients were found to have associated lesions during follow-up. Of 23 carriers of SDHD or SDHB mutations, none had glomus tumors at presentation, but these tumors developed in 4 patients during follow-up (Figure 1Figure 1
Pheochromocytoma of the Left Adrenal Gland and Glomus Tumor of the Left Carotid Body in a Carrier of a Mutation of SDHD.). The majority of medullary thyroid carcinomas and glomus tumors were detected by screening.Because of our exclusion criteria, none of the 66 patients who were positive for mutations presented with a family history of syndrome-specific tumors. However, among patients with mutations of RET, six had a positive family history at the final follow-up. Similarly, 12 carriers of mutations of VHL had a positive family history at follow-up. None of the 23 patients found to have germ-line mutations of SDHD or SDHB had a positive family history at initial presentation. Even at follow-up, only four had family members who had been found to have clinical disease. There was a delay of up to 35 years before relatives began to have symptoms, and for 10 of 23 patients, the family history became positive only when active clinical screening was performed. Forty-two of the 66 probands with mutations (64 percent) had only one pheochromocytoma and no associated syndrome-specific lesion. Over 80 percent of patients with mutations of SDHD (7 of 11) or SDHB (12 of 12) presented with one pheochromocytoma, no family history, and no feature of associated syndromes. In contrast, this was true in about half of the patients with mutations of RET (8 of 13) or VHL (15 of 30).
Discussion
Our systematic clinical and molecular evaluation of 271 unrelated patients who presented with nonsyndromic pheochromocytoma revealed that 66 (24 percent) had a hereditary predisposition to von Hippel–Lindau disease, MEN-2, or the syndromes associated with pheochromocytoma and paraganglioma on the basis of newly discovered mutations in the VHL, RET, SDHD, or SDHB gene. Among the 66 patients with mutations, 45 percent had germ-line mutations of VHL, 20 percent had mutations of RET, and 17 and 18 percent had mutations of two newly identified genes, SDHD and SDHB. Currently, 64 percent of all probands found to have hereditary disease were identified with the use of molecular testing of VHL, RET, SDHD, and SDHB and had no family history, solitary disease, and no associated signs and symptoms at presentation.
Several previous studies, limited by small size, hinted that certain subgroups of patients with pheochromocytoma might have a higher risk of hereditary disease — those with bilateral or multifocal tumors, those who are relatively young at presentation, or both.2,4,23,24 Our registry-based study addresses these issues by its complete or nearly complete identification of virtually all cases of bilateral tumors, cases of extraadrenal pheochromocytoma (paraganglioma), and cases with early onset. We can state confidently that 84 percent of all multifocal tumors (including bilateral tumors) and 59 percent of pheochromocytomas with onset at the age of 18 years or younger were found to be hereditary. Our results suggest that extraadrenal pheochromocytoma may be a striking feature of hereditary disease (P=0.006). When extraadrenal disease is found either in isolation or with adrenal pheochromocytoma, the molecular differential diagnosis, in descending order, includes mutations of SDHB (in 50 percent of cases), SDHD (36 percent), and VHL (17 percent) but not RET.
A partial explanation for the high frequency of hereditary pheochromocytoma without a family history of disease might include spontaneous mutation in one of the susceptibility genes, decreased penetrance, and maternal imprinting. In our registry, spontaneous mutations in VHL accounted for 13 percent of cases of hereditary von Hippel–Lindau disease. Penetrance is known to be relatively high (approximately 70 percent by the age of 70) among patients with MEN-2 and von Hippel–Lindau disease, overall.25,26 The penetrance of mutations of SDHD and SDHB is not well known because they are newly identified genes. Preliminary figures from this registry suggest a relatively high penetrance. Familial glomus tumors due to mutations of SDHD are known to be maternally imprinted.6,9 Overall, therefore, pheochromocytomas in patients without family histories are due to spontaneous mutations, decreased penetrance, or maternal imprinting, although other causes such as gene–gene interactions and gene–environment interactions may be possible.
Genetic testing can be a powerful aid to the identification of a syndrome in such cases. For example, our study suggests that a patient with pheochromocytoma who has mutations of SDHD or SDHB has an approximately 20 to 30 percent likelihood of already having glomus tumors or of having glomus tumors develop. Since such tumors are difficult to treat when advanced (Figure 1), it is reasonable to speculate that molecular identification of a mutation in one of these two genes could lead to surveillance, early diagnosis of tumors, and more effective treatment. In our study, 68 percent of patients found to have germ-line mutations presented with solitary tumors. It is the standard of care for clinical cancer geneticists to offer genetic testing to patients with a minimal a priori risk of mutation of 10 percent.13 This figure can be lowered if the technique of mutation analysis is straightforward and cost effective and the alteration in medical management saves lives, as is the case for testing for mutations of RET.27 Our registry-based study has demonstrated that the a priori risk of finding a mutation of VHL, RET, SDHD, or SDHB in unrelated patients who present with pheochromocytoma not only meets but exceeds both of these criteria, even in the case of patients who are over the age of 40 at presentation.
In our opinion, although it has not yet been demonstrated by a clinical trial, the identification of a new case of hereditary pheochromocytoma on the basis of the identification of the disease-associated mutation should prompt genetic testing of all first-degree relatives of the carrier to determine the presence or absence of the family-specific mutation. Since disease is likely to develop in virtually all patients with a family-specific mutation, it seems reasonable to subject such patients to lifelong surveillance, prophylactic surgery, or both, depending on the precise genetic diagnosis.
Supported by grants from the Center of Clinical Research (3000 1257 C5) of the Albert Ludwigs University, the Deutsche Forschungsgemeinschaft (NE 571/4-1), the Polish Committee of Scientific Research (4PO5B813), and the National Institutes of Health (R01HD39058 and P30CA16058).
Drs. Neumann and Eng contributed equally to the article.
We are indebted to Bettina Bohnert-Iwan, Juliane Alt-Moerbe, Ph.D., Heather Dziema, B.A., Jessica L. Brown, B.A., and Mary Armanios, M.D., for technical assistance; to Gabriele Reifsteck for secretarial assistance; to Christian Ketterer for biostatistical assistance; to the many clinicians of the Freiburg–Warsaw–Columbus Pheochromocytoma Study Group for their continued support; to Eva Wey-Vogel, Ph.D., and Alessandra Baumer, M.D., for contributing the control DNA; to many colleagues and families for detailed information; and to Michael R. Grever, Ph.D., for critical review of an early draft of the manuscript.
Source Information
From the Department of Nephrology and Hypertension (H.P.H.N., B.B., B.U.B., G.F.), the Department of Otolaryngology (J.S.), the Department of Neuroradiology (J.K.), and the Department of Radiology (C.A.), Albert Ludwigs University, Freiburg, Germany; the Clinical Cancer Genetics Program and Human Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus (S.R.M., O.G., C.E.); the Institute of Human Genetics, University of Aachen, Aachen, Germany (K.Z.); the Department of Hypertension, Institute of Cardiology, Warsaw, Poland (A.J.); and the Cancer Research Campaign, Human Cancer Genetics Research Group, University of Cambridge, Cambridge, United Kingdom (C.E.).
Address reprint requests to Dr. Neumann at the Medizinische Universitätsklinik, Hugstetterstr. 55, D-79106 Freiburg, Germany, or at neumann@mm41.ukl.uni-freiburg.de.
The members of the Freiburg–Warsaw–Columbus Pheochromocytoma Study Group are listed in the Appendix.
Other authors were Wendy M. Smith, B.A. (Human Cancer Genetics Program, Ohio State University, Columbus); Robin Munk, M.D., Tanja Manz, M.D., Sven Glaesker, M.D., and Thomas W. Apel, Ph.D. (Department of Nephrology, Clinics of the Albert Ludwigs University, Freiburg, Germany); Markus Treier, M.D. (Department of Otolaryngology, Clinics of the Albert Ludwigs University, Freiburg, Germany); Martin Reineke, M.D. (Department of Gastroenterology and Endocrinology, Clinics of the Albert Ludwigs University, Freiburg, Germany); Martin K. Walz, M.D. (Department of Surgery, Klinikum Essen-Mitte, Essen, Germany); Cuong Hoang-Vu, M.D., and Michael Brauckhoff, M.D. (Department of Surgery, University of Halle, Halle, Germany); Andreas Klein-Franke, M.D. (Department of Pediatrics, University of Göttingen, Göttingen, Germany); Peter Klose, M.D. (Department of Pediatrics, City Hospital, Munich-Harlaching, Germany); Heinrich Schmidt, M.D. (Department of Pediatrics, Ludwig-Maximilians University, Munich, Germany); Margarete Maier-Woelfle, M.D. (Department of Internal Medicine, Kantonsspital, St. Gallen, Switzerland); Mariola Peçzkowska, M.D. (Department of Hypertension, Institute of Cardiology, Warsaw, Poland); and Cesary Szmigielski, M.D. (Medical University, Warsaw, Poland).
Appendix
The members of the Freiburg–Warsaw–Columbus Pheochromocytoma Study Group were as follows (all are in Germany unless otherwise indicated): B. Allolio, Department of Endocrinology, University of Wuerzburg, Wuerzburg; M. Andrino, University of Essen, Essen; F.A.M. Baumeister, Department of Pediatrics, Munich Technical University, Munich; Alessandra Baumer, Department of Genetics, University of Zurich, Zurich, Switzerland; D.P. Berger, Department of Oncology, University of Freiburg, Freiburg; P. Beyer, Children's Hospital, Evangelisches Krankenhaus, Oberhausen; E. Blind, Department of Medicine–Endocrinology, University of Wuerzburg, Wuerzburg; P. Bucsky, Department of Pediatrics, University of Luebeck, Luebeck; K. Cupisti, Department of General and Trauma Surgery, University of Düsseldorf, Düsseldorf; I. Cybulska, Department of Hypertension, Institute of Cardiology, Warsaw, Poland; H. Dahan, Institute of Human Genetics, Université Catholique de Louvain Bruxelles, Brussels, Belgium; H.G. Doerr, Department of Pediatrics, University of Erlangen, Erlangen; M. Domula, Department of Pediatrics, LM University of Leipzig, Leipzig; W. Draf, Department of Otolaryngology, City Hospital, Fulda; H. Dralle, Department of General, Visceral and Vascular Surgery, University of Halle, Halle; R. Elsner, University of Munich, Munich; J. Engert, Department of Pediatric Surgery, Marienhospital, University of Bochum, Bochum; W. Fassbinder, Department of Internal Medicine, City Hospital, Fulda; A. Frilling, Department of Surgery and Transplantation, University of Essen, Essen; P. Heidemann, Children's Hospital, Augsburg; S. Hoegerle, Department of Nuclear Medicine, University of Freiburg, Freiburg; G. Hofmockel, Department of Urology, Medizinisches Zentrum, Wuerselen; W. Januszewicz, Warsaw, Poland; A. Jocham, Ludwig-Maximilians University, Munich; H. Juergens, Department of Pediatrics, University of Muenster, Muenster; H. Kabisch, Department of Pediatrics, University of Hamburg, Hamburg; G. Kirste, Department of Surgery, University of Freiburg, Freiburg; B. Kratzsch, Department of Otolaryngology, City Hospital, Fulda; I. Krause, Children's Hospital, Chemnitz; B. Kremens, Department of Pediatrics, University of Essen, Essen; K.M. Kreusel, Department of Ophthalmology, Free University, Berlin; H. Krude, Department of Pediatric Endocrinology, Charité, Berlin; B. Krumme, Deutsche Klinik fuer Diagnostik, Wiesbaden; M. Lapinski, Medical University, Warsaw, Poland; J. Laubenberger, Department of Radiology, University of Freiburg, Freiburg; S. Lederbogen, Essen; H.G. Lenard, Department of Pediatrics, University of Düsseldorf, Düsseldorf; I. Lon, Medical University, Warsaw, Poland; M. Makowiecka-Ciesla, Department of Hypertension, Institute of Cardiology, Warsaw, Poland; K. Mann, Department of Endocrinology, University of Essen, Essen; O. Mehls, Department of Pediatrics, University of Heidelberg, Heidelberg; U. Mittler, Department of Pediatric Oncology and Hematology, University of Magdeburg, Magdeburg; O.A. Mueller, Rotkreuz Hospital, Munich; L.M. Neumann, Department of Human Genetics, Charite, Campus Virchow, Humboldt University, Berlin; C.M. Niemeyer, Department of Pediatrics, University of Freiburg, Freiburg; H.H. Peter, Department of Rheumatology and Immunology, University of Freiburg, Freiburg; W. Rabl, Department of Pediatrics, Technical University of Munich, Munich; P. Reichardt, Department of Pediatric Surgery, University of Leipzig, Leipzig; K.D. Rueckauer, Department of Surgery, University of Freiburg, Freiburg; A. Schinzel, Department of Genetics, University of Zurich, Zurich, Switzerland; D. Schmidt, Department of Ophthalmology, University of Freiburg, Freiburg; M. Schoeniger, Department of Pediatrics, City Hospital, Munich-Schwabing, Munich; W. Schultze-Seemann, Department of Urology, University of Freiburg, Freiburg; D. Simon, Department of Surgery, University of Düsseldorf, Düsseldorf; W.G. Sippel, Department of Pediatrics, University of Kiel, Kiel; M. Stahl, Children's Hospital, Loerrach; M. Sznajderman, Department of Hypertension, Institute of Cardiology, Warsaw, Poland; C. Verellen, Center of Human Genetics, Université Catholique de Louvain Bruxelles, Brussels, Belgium; H. Wehinger, Children's Hospital Kassel, Kassel; R.R. Wenzel, Department of Nephrology, University of Essen, Essen; U. Wetterauer, Department of Urology, University of Freiburg, Freiburg; B. Wocial, Medical University, Warsaw, Poland; S.A. Wudy, Department of Pediatrics, University of Giessen, Giessen; L.B. Zimmerhackl, Department of Pediatrics, University of Freiburg, Freiburg; O. Zimmermann, Children's Hospital, Chemnitz; W. Zumkeller, Children's Hospital, University of Halle, Halle.
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Citing Articles
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C. Brase, H. Neumann, M. Lell, S. Schwarz-Furlan, K. Rogler, J. Hornung. (2012) Junger Patient mit Paragangliomsyndrom Typ 1. HNO
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Andreas Muth, Frida Abel, Svante Jansson, Ola Nilsson, Håkan Ahlman, Bo Wängberg. (2012) Prevalence of Germline Mutations in Patients with Pheochromocytoma or Abdominal Paraganglioma and Sporadic Presentation: A Population-Based Study in Western Sweden. World Journal of Surgery
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Graeme Eisenhofer. (2012) Screening for Pheochromocytomas and Paragangliomas. Current Hypertension Reports
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Michael D. Tibbetts, Richard Wise, Brian Forbes, Holly L. Hedrick, Alex V. Levin. (2012) Hypertensive retinopathy in a child caused by pheochromocytoma: Identification after a failed school vision screening. Journal of American Association for Pediatric Ophthalmology and Strabismus
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Suk Ho Hong, Gu Hyum Kang, Dae Young Kang. (2012) Clinical and Histopathological Study of Pheochromocytoma Arising in the Adrenal Gland. Korean Journal of Medicine 82:1, 60
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Tim I. M. Korevaar, Ashley B. Grossman. (2011) Pheochromocytomas and paragangliomas: assessment of malignant potential. Endocrine 40:3, 354-365
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Maurizio Iacobone, Francesca Schiavi, Marzia Bottussi, Elisa Taschin, Sara Bobisse, Ambrogio Fassina, Giuseppe Opocher, Gennaro Favia. (2011) Is genetic screening indicated in apparently sporadic pheochromocytomas and paragangliomas?. Surgery 150:6, 1194-1201
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Amanda M. Laird, Paul G. Gauger, Gerard M. Doherty, Barbra S. Miller. (2011) Paraganglioma: not just an extra-adrenal pheochromocytoma. Langenbeck's Archives of Surgery
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Pierre Wailly, Luigi Oragano, Francois Radé, Anthony Beaulieu, Vincent Arnault, Pierre Levillain, Jean Louis Kraimps. (2011) Malignant pheochromocytoma: new malignancy criteria. Langenbeck's Archives of Surgery
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Chiara Bardella, Patrick J. Pollard, Ian Tomlinson. (2011) SDH mutations in cancer. Biochimica et Biophysica Acta (BBA) - Bioenergetics 1807:11, 1432-1443
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J. Renard, T. Clerici, M. Licker, F. Triponez. (2011) Phéochromocytomes et paragangliomes abdominaux. Journal de Chirurgie Viscérale
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J. Welander, P. Soderkvist, O. Gimm. (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocrine Related Cancer
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Y. Ni, X. He, J. Chen, J. Moline, J. Mester, M. S. Orloff, M. D. Ringel, C. Eng. (2011) Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Human Molecular Genetics
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Anthony J. Gill, Nicholas S. Pachter, Angela Chou, Barbara Young, Adele Clarkson, Katherine M. Tucker, Ingrid M. Winship, Peter Earls, Diana E. Benn, Bruce G. Robinson, Stewart Fleming, Roderick J. Clifton-Bligh. (2011) Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology. The American Journal of Surgical Pathology 35:10, 1578-1585
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Pier Francesco Alesina, Jakob Hinrichs, Beate Meier, Kurt W. Schmid, Hartmut P. H. Neumann, Martin K. Walz. (2011) Minimally invasive cortical-sparing surgery for bilateral pheochromocytomas. Langenbeck's Archives of Surgery
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M. Jafri, E. Maher. (2011) REVIEW TOPIC: GENETICS IN ENDOCRINOLOGY The genetics of phaeochromocytoma - using clinical features to guidegenetic testing. European Journal of Endocrinology
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J. Renard, T. Clerici, M. Licker, F. Triponez. (2011) Pheochromocytoma and abdominal paraganglioma. Journal of Visceral Surgery
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Jessica Moline, Charis Eng. (2011) Multiple endocrine neoplasia type 2: An overview. Genetics in Medicine 13:9, 755-764
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Meeran Naji, Chunlei Zhao, Sarah J. Welsh, Richard Meades, Zarni Win, Annalisa Ferrarese, Tricia Tan, Domenico Rubello, Adil Al-Nahhas. (2011) 68Ga-DOTA-TATE PET vs. 123I-MIBG in Identifying Malignant Neural Crest Tumours. Molecular Imaging and Biology 13:4, 769-775
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Robert J. Deegan, William R. Furman. (2011) Cardiovascular Manifestations of Endocrine Dysfunction. Journal of Cardiothoracic and Vascular Anesthesia 25:4, 705-720
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Daniel Gambí, Fernando Garrido, Pablo Menéndez, Ana Serantes, Eloy Sancho. (2011) Paraganglioma retroperitoneal maligno. Causa infrecuente de hipertensión arterial. Cirugía Española 89:7, 476-478
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Giuseppe Opocher, Francesca Schiavi. (2011) Functional Consequences of Succinate Dehydrogenase Mutations. Endocrine Practice 17:0, 64-71
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Iñaki Comino-Méndez, Francisco J Gracia-Aznárez, Francesca Schiavi, Iñigo Landa, Luis J Leandro-García, Rocío Letón, Emiliano Honrado, Rocío Ramos-Medina, Daniela Caronia, Guillermo Pita, Álvaro Gómez-Graña, Aguirre A de Cubas, Lucía Inglada-Pérez, Agnieszka Maliszewska, Elisa Taschin, Sara Bobisse, Giuseppe Pica, Paola Loli, Rafael Hernández-Lavado, José A Díaz, Mercedes Gómez-Morales, Anna González-Neira, Giovanna Roncador, Cristina Rodríguez-Antona, Javier Benítez, Massimo Mannelli, Giuseppe Opocher, Mercedes Robledo, Alberto Cascón. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nature Genetics 43:7, 663-667
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Eamonn R Maher, Hartmut PH Neumann, Stéphane Richard. (2011) von Hippel–Lindau disease: A clinical and scientific review. European Journal of Human Genetics 19:6, 617-623
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Jeena Varghese, Montserrat Ayala-Ramirez, Thereasa Rich, Eric Rohren, Priya Rao, Camilo Jimenez. (2011) Novel germline SDHD mutation: diagnosis and implications to the patient. Familial Cancer 10:2, 365-371
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Sven Gläsker, Mukesch J Shah, Beate Hippchen, Hartmut P H Neumann, Vera van Velthoven. (2011) Doppler-Sonographically Guided Resection of Central Nervous System Hemangioblastomas. Neurosurgery 68, ons267-ons275
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Run Yu, Nicholas N. Nissen, Deepti Dhall, Edward Phillips. (2011) Diagnosis and Management of Pheochromocytoma in an Academic Hospital 3 Years After Formation of a Pheochromocytoma Interest Group. Endocrine Practice 17:3, 356-362
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Brian Shuch, Karel Pacak, W. Marston Linehan, Gennady Bratslavsky. (2011) Editorial Comment. The Journal of Urology 185:5, 1589-1590
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Aaron I. Vinik, Michael Raymund C. Gonzales. (2011) New and Emerging Syndromes due to Neuroendocrine Tumors. Endocrinology & Metabolism Clinics of North America 40:1, 19-63
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Nazlı Gonc, Ozlem Engiz, Hartmut P.H. Neumann, Huseyin Demirbilek, Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir. (2011) Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient. Journal of Pediatric Endocrinology and Metabolism 24:1-2, 109-112
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Mingqing Li, William Y. Kim. (2011) Two sides to every story: the HIF-dependent and HIF-independent functions of pVHL. Journal of Cellular and Molecular Medicine 15:2, 187-195
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Kwang Hyun Kim, Jae Seung Chung, Won Tae Kim, Cheol Kyu Oh, Yun Byung Chae, Ho Song Yu, Won Sik Ham, Young Deuk Choi. (2011) Clinical Experiences of Pheochromocytoma in Korea. Yonsei Medical Journal 52:1, 45
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xxxxxx xxxxxxxxxx, Fiona Mei Wen Wu, Shih Ling Kao, Thomas Paul Thamboo, Woo Chau Tsang, Chin Tiong Heng, Ho Yee Tiong. (2011) Laparoscopic Partial Cystectomy for Symptomatic Paraganglioma of the Urinary Bladder: A Case Report. UroToday International Journal 04:01,
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Karin Frank-Raue, Lisa A. Rybicki, Zoran Erlic, Heiko Schweizer, Aurelia Winter, Ioana Milos, Sergio P.A. Toledo, Rodrigo A. Toledo, Marcos R. Tavares, Maria Alevizaki, Caterina Mian, Heide Siggelkow, Michael Hüfner, Nelson Wohllk, Giuseppe Opocher, Šárka Dvořáková, Bela Bendlova, Małgorzata Czetwertynska, Elżbieta Skasko, Marta Barontini, Gabriela Sanso, Christian Vorländer, Ana Luiza Maia, Attila Patocs, Thera P. Links, Jan Willem de Groot, Michiel N. Kerstens, Gerlof D. Valk, Konstanze Miehle, Thomas J. Musholt, Josefina Biarnes, Svetozar Damjanovic, Mihaela Muresan, Christian Wüster, Martin Fassnacht, Mariola Peczkowska, Christine Fauth, Henriette Golcher, Martin A. Walter, Josef Pichl, Friedhelm Raue, Charis Eng, Hartmut P.H. Neumann, . (2011) Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Human Mutation 32:1, 51-58
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Jochen Steppan, Julia Shields, Ralph Lebron. (2011) Pheochromocytoma Presenting as Acute Heart Failure Leading to Cardiogenic Shock and Multiorgan Failure. Case Reports in Medicine 2011, 1-4
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Paula Sánchez Sobrino, Concepción Páramo Fernández, Pedro Gil Gil, Beatriz Mantiñán Gil, Alberto Pérez Pedrosa, Regina Palmeiro Carballeira, Ricardo V. García-Mayor. (2011) Phenotype of the C634Y mutation in the RET proto-oncogene in MEN2A: report of a family. Endocrinología y Nutrición (English Edition) 58:5, 229-235
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Kristin N. Fiorino, Brian Lestini, Kim E. Nichols, Sudha A. Anupindi, Asim Maqbool. (2011) An Unusual Case of Gastrointestinal Bleeding. Case Reports in Pediatrics 2011, 1-4
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Charis Eng. (2010) Mendelian genetics of rare-and not so rare-cancers. Annals of the New York Academy of Sciences 1214:1, 70-82
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Stephanie M.J. Fliedner, Hendrik Lehnert, Karel Pacak. (2010) Metastatic Paraganglioma. Seminars in Oncology 37:6, 627-637
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Lee F. Starker, Alberto Delgado-Verdugo, Robert Udelsman, Peyman Björklund, Tobias Carling. (2010) Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism. Endocrine 38:3, 397-401
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David Karasek, Zdenek Frysak, Karel Pacak. (2010) Genetic Testing for Pheochromocytoma. Current Hypertension Reports 12:6, 456-464
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Giuseppe Opocher, Francesca Schiavi. (2010) Genetics of pheochromocytomas and paragangliomas. Best Practice & Research Clinical Endocrinology & Metabolism 24:6, 943-956
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M. Soufi, R. Mohsine, H. O. Malki, L. Ifrine, A. Belkouchi. (2010) Le phéochromocytome surrénalien malin : difficultés diagnostiques et modalités thérapeutiques. Journal Africain du Cancer / African Journal of Cancer 2:4, 275-281
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Madson Q. Almeida, Constantine A. Stratakis. (2010) Solid tumors associated with multiple endocrine neoplasias. Cancer Genetics and Cytogenetics 203:1, 30-36
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Despoina Alataki, A. Triantafyllidis, José Gaal, C. Rodiou, J. Vouros, A. Papathanasiou, A. Papanicolaou, V. Rombis, Ronald R. Krijger. (2010) A non-catecholamine-producing sympathetic paraganglioma of the spermatic cord: the importance of performing candidate gene mutation analysis. Virchows Archiv 457:5, 619-622
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Saravana R. K. Murthy, Karel Pacak, Y. Peng Loh. (2010) Carboxypeptidase E: Elevated Expression Correlated with Tumor Growth and Metastasis in Pheochromocytomas and Other Cancers. Cellular and Molecular Neurobiology 30:8, 1377-1381
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José Gaal, Ronald R. de Krijger. (2010) Neuroendocrine Tumors and Tumor Syndromes in Childhood. Pediatric and Developmental Pathology 13:6, 427-441
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Ismail Jatoi, John R. Benson, Siong-Seng Liau, Yijun Chen, Robin M. Cisco, Jeffrey A. Norton, Jeffrey F. Moley, Katherine W. Khalifeh, Michael A. Choti. (2010) The Role of Surgery in Cancer Prevention. Current Problems in Surgery 47:10, 750-830
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Tsunenori Saito, Daishu Miura, Manabu Taguchi, Akira Takeshita, Megumi Miyakawa, Yasuhiro Takeuchi. (2010) Coincidence of Multiple Endocrine Neoplasia Type 2A With Acromegaly. The American Journal of the Medical Sciences 340:4, 329-331
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S. Schwarz-Furlan, C. Brase, P. Stockmann, I. Furlan, A. Hartmann. (2010) Hereditäre Tumoren des Kopf-Hals-Bereichs. Der Pathologe 31:6, 477-484
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Wendy S. Rubinstein. (2010) Endocrine Cancer Predisposition Syndromes: Hereditary Paraganglioma, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, and Hereditary Thyroid Cancer. Hematology/Oncology Clinics of North America 24:5, 907-937
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Carey Winkler, Fred Coleman. 2010. Endocrine Emergencies. , 425-437.
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Friedhelm Raue, Karin Frank-Raue. (2010) Update multiple endocrine neoplasia type 2. Familial Cancer 9:3, 449-457
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Daniel K. Han, Eric W. Fishman, Maggie H. Walkup, Jeffrey W. Olin, Michael L. Marin, Peter L. Faries. (2010) A rare case of familial carotid body tumor in a patient with bilateral fibromuscular dysplasia. Journal of Vascular Surgery 52:3, 746-750
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Herbert Chen, Rebecca S. Sippel, M. Sue O'Dorisio, Aaron I. Vinik, Ricardo V. Lloyd, Karel Pacak. (2010) The North American Neuroendocrine Tumor Society Consensus Guideline for the Diagnosis and Management of Neuroendocrine Tumors. Pancreas 39:6, 775-783
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Haruhiro Sato, Genta Kanai, Kenichi Hirabayshi, Hiroshi Kajiwara, Johbu Itoh, Robert Yoshiyuki Osamura. (2010) L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma. Endocrine 38:1, 18-23
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Aaron I. Vinik, Eugene A. Woltering, Richard R. P. Warner, Martyn Caplin, Thomas M. O'Dorisio, Gregory A. Wiseman, Domenico Coppola, Vay Liang W. Go. (2010) NANETS Consensus Guidelines for the Diagnosis of Neuroendocrine Tumor. Pancreas 39:6, 713-734
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Petra Sovinz, Christian Urban, Sabine Uhrig, Vinzenz Stepan, Herwig Lackner, Wolfgang Schwinger, Martin Benesch, Andrea Moser, Ekkehard Spuller, Michael R. Speicher. (2010) Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R. American Journal of Medical Genetics Part A 152A:7, 1752-1755
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I-Chien Wu, Ikuroh Ohsawa, Noriyuki Fuku, Masashi Tanaka. (2010) Metabolic analysis of 13C-labeled pyruvate for noninvasive assessment of mitochondrial function. Annals of the New York Academy of Sciences 1201:1, 111-120
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Aradhana M. Venkatesan, Julia Locklin, Damian E. Dupuy, Bradford J. Wood. (2010) Percutaneous Ablation of Adrenal Tumors. Techniques in Vascular and Interventional Radiology 13:2, 89-99
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Vitaly Kantorovich, Kathryn S. King, Karel Pacak. (2010) SDH-related pheochromocytoma and paraganglioma. Best Practice & Research Clinical Endocrinology & Metabolism 24:3, 415-424
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Marta Barontini, Patricia L.M. Dahia. (2010) VHL Disease. Best Practice & Research Clinical Endocrinology & Metabolism 24:3, 401-413
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Nelson Wohllk, Heiko Schweizer, Zoran Erlic, Kurt Werner Schmid, Martin K. Walz, Friedhelm Raue, Hartmut P.H. Neumann. (2010) Multiple endocrine neoplasia type 2. Best Practice & Research Clinical Endocrinology & Metabolism 24:3, 371-387
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Deepali Jain, Joseph J. Maleszewski, Marc K. Halushka. (2010) Benign cardiac tumors and tumorlike conditions. Annals of Diagnostic Pathology 14:3, 215-230
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Anthony J. Gill, Diana E. Benn, Angela Chou, Adele Clarkson, Anita Muljono, Goswin Y. Meyer-Rochow, Anne Louise Richardson, Stan B. Sidhu, Bruce G. Robinson, Roderick J. Clifton-Bligh. (2010) Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. Human Pathology 41:6, 805-814
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Sergio Chang Figueroa, Uzma Khan, L. Romayne Kurukulasuriya, David Gardner, James R. Sowers. (2010) Surgical Cure of Hypertension in a Patient With MEN 2A Syndrome and Mixed Dopamine, Metanephrine Pheochromocytoma. The Journal of Clinical Hypertension 12:6, 439-443
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Cabot, Richard C.Harris, Nancy Lee, Shepard, Jo-Anne O., Rosenberg, Eric S., Cort, Alice M., Ebeling, Sally H.Peters, Christine C., Samuels, Martin A., Pomerantz, Benjamin J., Sadow, Peter M., . (2010) Case 14-2010. New England Journal of Medicine 362:19, 1815-1823
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Ali S. Alzahrani, Omalkhaire Alshaikh, Muhammad Faiyaz-Ul-Haque, Halah Abalkhail, Fouad Al-Dayel, Hindi Al Hindi. (2010) Multiple Paraganglioma Syndrome Type 4 Due to Succinate Dehydrogenase B Mutation: Diagnostic and Therapeutic Challenges of a Skull Base Paraganglioma Masquerading as Nasopharyngeal Cancer. Endocrine Practice 16:3, 452-458
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K. Lahlou-Laforêt. (2010) Psychiatrie de liaison et conseil génétique. Annales Médico-psychologiques, revue psychiatrique 168:3, 225-228
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Shern L. Chew. (2010) Diagnosis: Imaging of pheochromocytomas and paragangliomas. Nature Reviews Endocrinology 6:4, 193-194
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E. Hervás Abad, C. Páramo Fernández, A. Casteràs Román, E. Hernández De Alonso, L. Fajar Rodríguez, L. Ramírez Muñoz, R.V. García-Mayor. (2010) Manifestaciones adrenérgicas de los tumores del tejido cromafín extraadrenal. Revista Clínica Española 210:4, 163-167
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Yuejuan Qin, Li Yao, Elizabeth E King, Kalyan Buddavarapu, Romina E Lenci, E Sandra Chocron, James D Lechleiter, Meghan Sass, Neil Aronin, Francesca Schiavi, Francesca Boaretto, Giuseppe Opocher, Rodrigo A Toledo, Sergio P A Toledo, Charles Stiles, Ricardo C T Aguiar, Patricia L M Dahia. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nature Genetics 42:3, 229-233
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Dario Mazza, Chiara Taffon, Paolo Scarpato, Flavio Barchetti, Alessandro Agrillo. (2010) Atypical Localization and Atypical Magnetic Resonance Imaging Findings of a Paraganglioma at the Mouth Mucosa. Journal of Craniofacial Surgery 21:2, 400-402
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Suvankar Majumdar, Christopher A. Friedrich, Christian A. Koch, Gail C. Megason, Jonathan D. Fratkin, George W. Moll. (2010) Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma. Pediatric Blood & Cancer 54:3, 473-475
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Andreas R Janecke, Joan E Willett-Brozick, Christoph Karas, Metis Hasipek, Judith Loeffler-Ragg, Bora E Baysal. (2010) Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria. Journal of Human Genetics 55:3, 182-185
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Goswin Y. Meyer-Rochow, Geoff P. Schembri, Diana E. Benn, Mark S. Sywak, Leigh W. Delbridge, Bruce G. Robinson, Paul J. Roach, Stan B. Sidhu. (2010) The Utility of Metaiodobenzylguanidine Single Photon Emission Computed Tomography/Computed Tomography (MIBG SPECT/CT) for the Diagnosis of Pheochromocytoma. Annals of Surgical Oncology 17:2, 392-400
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Philip J. Hammond, Dermot Murphy, Robert Carachi, D. Fraser Davidson, Diana McIntosh. (2010) Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival. Journal of Pediatric Surgery 45:2, 383-386
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Bas Havekes, Kathryn King, Edwin W. Lai, Johannes A. Romijn, Eleonora P. M. Corssmit, Karel Pacak. (2010) New imaging approaches to phaeochromocytomas and paragangliomas. Clinical Endocrinology 72:2, 137-145
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Johanna Sandgren, Robin Andersson, Alvaro Rada-Iglesias, Stefan Enroth, Göran Åkerström, Jan P. Dumanski, Jan Komorowski, Gunnar Westin, Claes Wadelius. (2010) Integrative epigenomic and genomic analysis of malignant pheochromocytoma. Experimental and Molecular Medicine 42:7, 484
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Thereasa A. Rich, Camilo Jimenez, Douglas B. Evans. 2010. Hereditary Pheochromocytoma and Multiple Endocrine Neoplasia Type 2 (MEN2). , 181-191.
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Shirin Hasani-Ranjbar, Mahsa M. Amoli, Azadeh Ebrahim-Habibi, Vahid Haghpanah, Maryam Hejazi, Akbar Soltani, Bagher Larijani. (2009) Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease. Familial Cancer 8:4, 465-471
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Marlon A. Guerrero, Jennifer M.J. Schreinemakers, Menno R. Vriens, Insoo Suh, Jimmy Hwang, Wen T. Shen, Jessica Gosnell, Orlo H. Clark, Quan-Yang Duh. (2009) Clinical Spectrum of Pheochromocytoma. Journal of the American College of Surgeons 209:6, 727-732
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Pi-Lin Sung, Sheng-Ping Chang, Kuo-Chang Wen, Chia-Ming Chang, Ming-Jie Yang, Lin-Chao Chen, Kuan-Chong Chao, Chi-Ying F. Huang, Yueh-Chun Li, Chyi-Chyang Lin. (2009) Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype. American Journal of Medical Genetics Part A 149A:12, 2768-2774
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Dario Cotesta, Luigi Petramala, Valentina Serra, Mario Pergolini, Eleonora Crescenzi, Laura Zinnamosca, Giorgio De Toma, Antonio Ciardi, Iacopo Carbone, Rita Massa, Sebastiano Filetti, Claudio Letizia. (2009) Clinical Experience with Pheochromocytoma in a Single Centre Over 16 Years. High Blood Pressure & Cardiovascular Prevention 16:4, 183-193
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Livia C. Bianchi, Marcello Marchetti, Lorenzo Brait, Achille Bergantin, Ida Milanesi, Giovanni Broggi, Laura Fariselli. (2009) Paragangliomas of head and neck: a treatment option with CyberKnife radiosurgery. Neurological Sciences 30:6, 479-485
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Cornelis JM Lips, Wendy van Veelen, Thera P Links, Jo WM Höppener. (2009) Multiple endocrine neoplasia type 2. Expert Review of Endocrinology & Metabolism 4:5, 443-465
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James H. Rosing, R. Brooke Jeffrey, Teri A. Longacre, Ralph S. Greco. (2009) Massive Extra-adrenal Retroperitoneal Paraganglioma: Pre-operative Embolization and Resection. Digestive Diseases and Sciences 54:8, 1621-1624
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Zoran Erlic, Hartmut PH Neumann. (2009) Diagnosing patients with hereditary paraganglial tumours. The Lancet Oncology 10:8, 741
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