Genetics of pheochromocytoma and paraganglioma

被引：29

作者：

Wachtel, Heather ^{[1
,2
]}

Fishbein, Lauren ^{[3
,4
]}

机构：

[1] Hosp Univ Penn, Dept Surg, Div Endocrine & Oncol Surg, 3400 Spruce St, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

[3] Univ Colorado, Sch Med, Div Endocrinol Metab & Diabet, Dept Med, Aurora, CO USA

[4] Univ Colorado, Div Biomed Informat & Personalized Med, Aurora, CO USA

来源：

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY | 2021年 / 28卷 / 03期

基金：

美国国家卫生研究院;

关键词：

genomics; germline pathogenic variant; Paraganglioma; pheochromocytoma; somatic mutation; VON-HIPPEL-LINDAU; GASTROINTESTINAL STROMAL TUMORS; RENAL-CELL CARCINOMA; RET PROTOONCOGENE; NEUROFIBROMATOSIS TYPE-1; SUCCINATE-DEHYDROGENASE; SPORADIC PHEOCHROMOCYTOMA; GERMLINE MUTATIONS; CLINICAL-FEATURES; MAX MUTATIONS;

D O I：

10.1097/MED.0000000000000634

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Purpose of review This review summarizes our current understanding of germline and somatic genetics and genomics of pheochromocytomas and paragangliomas (PCC/PGL), describes existing knowledge gaps, and discusses future research directions. Recent findings Germline pathogenic variants (PVs) are found in up to 40% of those with PCC/PGL. Tumors with germline PVs are broadly categorized as Cluster 1 (pseudohypoxia), including those with SDH, VHL, FH, and EPAS1 PVs, or Cluster 2 (kinase signaling) including those with NF1, RET, TMEM127, and MAX PVs. Somatic driver mutations exist in some of the same genes (RET, VHL, NF1, EPAS1) as well as in additional genes including HRAS, CSDE1 and genes involved in cell immortalization (ATRX and TERT). Other somatic driver events include recurrent fusion genes involving MAML3. Summary PCC/PGL have the highest association with germline PVs of all human solid tumors. Expanding our understanding of the molecular pathogenesis of PCC/PGL is essential to advancements in diagnosis and surveillance and the development of novel therapies for these unique tumors.

引用

页码：283 / 290

页数：8

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