Update on the genetics of paragangliomas

被引：20

作者：

Gimenez-Roqueplo, Anne-Paule ^{[1
,2
]}

Robledo, Mercedes ^{[3
,4
]}

Dahia, Patricia L. M. ^{[5
,6
]}

机构：

[1] Univ Paris Cite, PARCC, INSERM, Paris, France

[2] Hop Europeen Georges Pompidou, AP HP, Dept Med Genom Tumeurs & Canc, Paris, France

[3] Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Programme, Hereditary Endocrine Canc Grp, Madrid, Spain

[4] Inst Hlth Carlos III, Biomed Res Networking Ctr Rare Dis CIBERER, Madrid, Spain

[5] Univ Texas Hlth Sci Ctr San Antonio UTHSCSA, Dept Med, Div Hematol & Med Oncol, San Antonio, TX USA

[6] Mays Canc Ctr UTHSCSA, San Antonio, TX USA

来源：

基金：

欧盟地平线“2020”;

关键词：

pheochromocytoma; paraganglioma; susceptibility genes; germline mutations; somatic mutations; PHEOCHROMOCYTOMA; VARIANTS; SELPERCATINIB; MANAGEMENT; BELZUTIFAN; MUTATIONS; CONSENSUS; FEATURES; SOCIETY; EXON;

D O I：

10.1530/ERC-22-0373

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Paragangliomas (PGL) of the adrenal (also known as pheochromocytomas) or extra-adrenal neural crest-derived cells are highly heritable tumors, usually driven by single pathogenic variants that occur mutually exclusively in genes involved in multiple cellular processes, including the response to hypoxia, MAPK/ERK signaling, and WNT signaling. The discovery of driver mutations has led to active clinical surveillance with outcome implications in familial PGL. The spectrum of mutations continues to grow and reveal unique mechanisms of tumorigenesis that inform tumor biology and provide the rationale for targeted therapy. Here we review recent progress in the genetics and molecular pathogenesis of PGLs and discuss new prospects for advancing research with new disease models and ongoing clinical trials presented at the recent International Symposium of Pheochromocytomas and Paragangliomas (ISP2022) held in October 2022 in Prague.

引用

页数：8

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