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Review
. 2017 Jun;46(2):459-489.
doi: 10.1016/j.ecl.2017.01.009. Epub 2017 Mar 9.

Genetics of Pheochromocytomas and Paragangliomas: An Overview on the Recently Implicated Genes MERTK, MET, Fibroblast Growth Factor Receptor 1, and H3F3A

Rodrigo Almeida Toledo  1
Affiliations
Review

Genetics of Pheochromocytomas and Paragangliomas: An Overview on the Recently Implicated Genes MERTK, MET, Fibroblast Growth Factor Receptor 1, and H3F3A

Rodrigo Almeida Toledo. Endocrinol Metab Clin North Am. 2017 Jun.

Abstract

Genomic studies conducted by different centers have uncovered various new genes mutated in pheochromocytomas and paragangliomas (PPGLs) at germline, mosaic, and/or somatic levels, greatly expanding our knowledge of the genetic events occurring in these tumors. The current review focuses on very new findings and discusses the previously not recognized role of MERTK, MET, fibroblast growth factor receptor 1, and H3F3A genes in syndromic and nonsyndromic PPGLs. These 4 new genes were selected because although their association with PPGLs is very recent, mounting evidence was generated that rapidly consolidated the prominence of these genes in the molecular pathogenesis of PPGLs.

Keywords: Exome; FGFR1; H3F3A; MERTK; MET; Paragangliomas; Pheochromocytomas; c-MET.

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