Molecular and Clinical Evidence for anARMC5Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma | Zendy

Ulf Elbelt | Zendy; Alessia Trovato | Zendy; Michael Kloth | Zendy; Enno Gentz | Zendy; R. Finke | Zendy; Joachim Spranger | Zendy; David J. Galas | Zendy; Susanne N. Weber | Zendy; Cristina Wolf | Zendy; Katharina König | Zendy; Wiebke Arlt | Zendy; Reinhard Büttner | Zendy; Patrick May | Zendy; Bruno Allolio | Zendy; Jochen G. Schneider | Zendy

Open Access

Molecular and Clinical Evidence for anARMC5Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma

Author(s) -

Ulf Elbelt,

Alessia Trovato,

Michael Kloth,

Enno Gentz,

R. Finke,

Joachim Spranger,

David J. Galas,

Susanne N. Weber,

Cristina Wolf,

Katharina König,

Wiebke Arlt,

Reinhard Büttner,

Patrick May,

Bruno Allolio,

Jochen G. Schneider

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-2648

Subject(s) - germline , germline mutation , context (archaeology) , somatic cell , loss of heterozygosity , mutation , smarcb1 , medicine , cancer research , endocrinology , biology , genetics , epigenetics , gene , allele , paleontology , chromatin remodeling

Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, which may present in the context of different familial multitumor syndromes. Heterozygous inactivating germline mutations of armadillo repeat containing 5 (ARMC5) have very recently been described as cause for sporadic PMAH. Whether this genetic condition also causes familial PMAH in association with other neoplasias is unclear.

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