Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

Mannelli, Massimo; Ercolino, Tonino; Giaché, Valentino; Simi, Lisa; Cirami, Calogero; Parenti, Gabriele

doi:10.1136/jmg.2007.051045

Cited by 93 publications

(68 citation statements)

References 6 publications

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“…They are mainly associated with parasympathetic PGLs, much less frequently with sympathetic PGLs and very seldom with PCCs (Mannelli et al 2007, Peczkowska et al 2008. The tumors are typically benign, but malignancy has been reported in one case (Niemann et al 2003).…”

Section: Pcc-pgl Syndromementioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

311

321

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Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC-PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney-Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes including KIF1Bb, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

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Section: Pcc-pgl Syndromementioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

311

321

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“…SDHC-associated disease is rare and was thought to occur exclusively as head and neck paragangliomas; however, an SDHC-associated extra-adrenal abdominal pheochromocytoma was recently reported [58]. Malignant pheochromocytoma/paraganglioma appears to be uncommon in SDHD-and SDHC-associated disease [59 -61].…”

Section: Familial Pheochromocytoma/paraganglioma Syndromesmentioning

confidence: 99%

Pheochromocytoma: Current Approaches and Future Directions

et al. 2008

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After completing this course, the reader should be able to:1. Use current practice methods in the diagnosis of pheochromocytomas.2. Employ current practice methods in the treatment of pheochromocytomas.3. Evaluate the current molecular research that contributes to the treatment of pheochromocytomas.This article is available for continuing medical education credit at CME.TheOncologist.com. CME CME ABSTRACTPheochromocytomas are rare catecholamine-secreting tumors that arise from chromaffin tissue within the adrenal medulla and extra-adrenal sites. Because of the excess secretion of hormones, these tumors often cause debilitating symptoms and a poor quality of life. While medical management plays a significant role in the treatment of pheochromocytoma patients, surgical excision remains the only cure. Improved medical management and surgical techniques and an increased understanding of hereditary disease have improved the outcome of pheochromocytoma patients with benign disease; however, the outcome of patients with malignant disease remains poor. In this review, we discuss the presentation, diagnosis, management, and future directions in the management of this disease. The Oncologist

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“…Their diagnosis provides a correctable cause of hypertension and can prevent life-threatening complications such as heart failure and arrhythmias. Over onethird of all patients with paraganglial tumors carry germline mutations in one of the ten susceptibility genes: VHL, RET, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, MAX, and TMEM127 (Neumann et al 2002, Mannelli et al 2007, 2009, Bayley et al 2010, Burnichon et al 2010, Qin et al 2010, Comino-Mendez et al 2011. Mutations in these genes cause pheochromocytomaassociated cancer syndromes such as von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1), the paraganglioma syndrome types 1-4 (PGL1-4), and the familial pheochromocytoma syndromes.…”

Section: Introductionmentioning

confidence: 99%

Long-term prognosis of patients with pediatric pheochromocytoma

Bausch¹,

Wellner²,

Bausch³

et al. 2013

Endocrine-Related Cancer

133

180

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A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. The European-American-PheochromocytomaParaganglioma-Registry, with a total of 2001 patients with confirmed paraganglial tumors, was the platform for this study. Molecular genetic and phenotypic classification and assessment of gene-specific long-term outcome with second and/or malignant paraganglial tumors and life expectancy were performed in patients diagnosed at !18 years. Of 177 eligible registrants, 80% had mutations, 49% VHL, 15% SDHB, 10% SDHD, 4% NF1, and one patient each in RET, SDHA, and SDHC. A second primary paraganglial tumor developed in

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Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

Cited by 93 publications

References 6 publications

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Pheochromocytoma: Current Approaches and Future Directions

Long-term prognosis of patients with pediatric pheochromocytoma

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