Pheochromocytomas and Paragangliomas in von Hippel–Lindau Disease

Baghai, Mercedeh; Thompson, Geoffrey B.; Young, William F.; Grant, Clive S.; Michels, Virginia V.; Heerden, Jon A. van

doi:10.1001/archsurg.137.6.682

Cited by 86 publications

(23 citation statements)

References 49 publications

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“…The disease is characterized by several different tumors such as clear cell renal carcinomas, PCCs, PGLs, pancreatic islet cell tumors, lymphatic sac tumors, and hemangioblastomas of the retina, cerebellum, kidney, and pancreas. About 10-26% of VHL patients develop PCC or PGL, but the risk varies between different families (Richard et al 1994, Walther et al 1999b, Baghai et al 2002.…”

Section: Vhl Syndromementioning

confidence: 99%

“…Six studies of VHLassociated PCCs and PGLs (Neumann et al 1993, Richard et al 1994, Walther et al 1999b, Baghai et al 2002, Amar et al 2005, Mannelli et al 2009), including a total number of 236 patients, have been analyzed. Of these patients, 90% had PCC and 19% had PGL.…”

Section: Vhl-associated Pccs and Pglsmentioning

confidence: 99%

“…The mean age at diagnosis of PCC/PGL was 29 years. PCC or PGL was the first manifestation of VHL disease in 30-55% of the cases (Richard et al 1994, Baghai et al 2002.…”

Section: Vhl-associated Pccs and Pglsmentioning

confidence: 99%

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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: Vhl Syndromementioning

confidence: 99%

Section: Vhl-associated Pccs and Pglsmentioning

confidence: 99%

See 1 more Smart Citation

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

311

321

View full text Add to dashboard Cite

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“…The adrenal medulla is the most common paraganglia affected in VHL type 2 patients but rare sympathetic and parasympathetic paragangliomas have also been described [27, 47, 50]. Pheochromocytomas are often bilateral and generally have a good prognosis [51, 52]. …”

Section: Genetics Of Paragangliomas/pheochromocytomasmentioning

confidence: 99%

Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

Martins

Bugalho

2014

International Journal of Endocrinology

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Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas) but may also have a thoracic, abdominal, or pelvic localization. Parasympathetic paragangliomas are generally located at the head or neck. Knowledge concerning the familial forms of paragangliomas has greatly improved in recent years. Additionally to the genes involved in the classical syndromic forms: VHL gene (von Hippel-Lindau), RET gene (Multiple Endocrine Neoplasia type 2), and NF1 gene (Neurofibromatosis type 1), 10 novel genes have so far been implicated in the occurrence of paragangliomas/pheochromocytomas: SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, EGLN1, HIF2A, and KIF1B. It is currently accepted that about 35% of the paragangliomas cases are due to germline mutations in one of these genes. Furthermore, somatic mutations of RET, VHL, NF1, MAX, HIF2A, and H-RAS can also be detected. The identification of the mutation responsible for the paraganglioma/pheochromocytoma phenotype in a patient may be crucial in determining the treatment and allowing specific follow-up guidelines, ultimately leading to a better prognosis. Herein, we summarize the most relevant aspects regarding the genetics and clinical aspects of the syndromic and nonsyndromic forms of pheochromocytoma/paraganglioma aiming to provide an algorithm for genetic testing.

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“…Ten to twenty percent of pheochromocytomas are hereditary. [4] The association of VHL with pheochromocytoma is seen in younger patients; these lesions are mostly multiple and bilateral (in up to 50% cases). Pheochromocytoma developed in 7–20% of patients with VHL in a reported series.…”

Section: Discussionmentioning

confidence: 99%

Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease

Boaz

Ramakant

Ebenazer

et al. 2011

Indian J Endocr Metab

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Neurofibromatosis type 1 is the most common phakomatoses and is inherited in autosomal dominant fashion with complete penetrance. Secondary hypertension is common in these patients due to various causes including adrenal tumors. Pheochromocytoma is a rare catecholamine producing tumor seen in 0.5% to 5% of patients with neurofibromatosis. The combination of pheochromocytoma with neurofibromatosis is rarely reported in the literature. We recently encountered an elderly lady with this combination who successfully underwent adrenalectomy. We report the case for the uncommon occurrence and to highlight the relevant literature review about pheochromocytoma in neurofibromatosis.

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Pheochromocytomas and Paragangliomas in von Hippel–Lindau Disease

Cited by 86 publications

References 49 publications

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease

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