Functioning carotid paraganglioma in the von Hippel-Lindau syndrome

Schimke, R. Neil; Collins, Debra L.; Rothberg, Paul G.

doi:10.1002/(sici)1096-8628(19981228)80:5<533::aid-ajmg21>3.0.co;2-c

Cited by 24 publications

(6 citation statements)

References 11 publications

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“…5 Rarely, HNPs have also been observed as an inherited condition in multiple endocrine neoplasia type 2 and von Hippel-Lindau disease, for which the susceptibility genes are RET and VHL, respectively. [10][11][12][13] It is of great clinical relevance to determine if any particular features of PGL are associated with a particular gene mutation and if the presence of a mutation in a particular gene could predict the characteristics of PGL neoplasias.…”

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confidence: 99%

Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the <EMPH TYPE="ITAL">SDHC</EMPH> Gene

Schiavi

Boedeker

Bausch

et al. 2005

JAMA

312

263

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ARAGANGLIOMA SYNDROME(PGL) is a clinical term that has been introduced to describe a group of diseases in which patients may have neoplasias of several paraganglia. 1,2 For at least 4 decades, it has been known that such conditions may be heritable. 3 In addition, thoracic, retroperitoneal, and adrenal lo-cations (eg, extra-adrenal or adrenal pheochromocytomas) are also wellrecognized components of PGL. 4,5 Thus, Author Affiliations and a complete list of the members of the European-American Paraganglioma Study Group appear at the end of this article.

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confidence: 99%

Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the <EMPH TYPE="ITAL">SDHC</EMPH> Gene

Schiavi

Boedeker

Bausch

et al. 2005

JAMA

312

263

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“…The fact that VHL mutation carriers are also at risk for the development of HNPGs has found little attention in international medical literature for many years. Until the year 2009, there were only 5 single case reports of patients with an HNPG and VHL syndrome . In 2009, a large international multicenter study including a total of 2084 registered patients with VHL found 11 of those patients (0.53%) to present with an HNPG .…”

Section: Discussionmentioning

confidence: 99%

Genetics of hereditary head and neck paragangliomas

et al. 2013

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“…Rare reports of HNPs occur in multiple endocrine neoplasia type 2 and von Hippel-Lindau disease (VHL; refs. [15][16][17][18]. These data enable us to identify patients with genetic susceptibility to HNP with management implications for themselves and their families.…”

Section: Introductionmentioning

confidence: 99%

Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Neumann

Erlic

Boedeker³

et al. 2009

Cancer Research

171

177

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Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes (SDHx). Mutation analysis for all 3 costs fUS$2,700 per patient. Genetic classification is essential for downstream management of the patient and preemptive management of family members. Utilizing HNP as a model, we wanted to determine predictors to prioritize the most heritable clinical presentations and which gene to begin testing in HNP presentations, to reduce costs of genetic screening. Patients were tested for SDHB, SDHC, and SDHD intragenic mutations and large deletions. Clinical parameters were analyzed as potential predictors for

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Functioning carotid paraganglioma in the von Hippel-Lindau syndrome

Cited by 24 publications

References 11 publications

Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the <EMPH TYPE="ITAL">SDHC</EMPH> Gene

Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the <EMPH TYPE="ITAL">SDHC</EMPH> Gene

Genetics of hereditary head and neck paragangliomas

Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

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