The genetic background of acromegaly

被引：51

作者：

Gadelha, Mnica R. ^{[1
,2
,3
]}

Kasuki, Leandro ^{[1
,2
,3
,4
]}

Korbonits, Marta ^{[5
]}

机构：

[1] Univ Fed Rio de Janeiro, Hosp Univ Clementino Fraga Filho, Neuroendocrinol Res Ctr, Endocrine Sect, Rio De Janeiro, Brazil

[2] Univ Fed Rio de Janeiro, Hosp Univ Clementino Fraga Filho, Sch Med, Rio De Janeiro, Brazil

[3] Secretaria Estadual Saude Rio de Janeiro, Inst Estadual Cerebro Paulo Niemeyer, Neuroendocrine Sect, Rio De Janeiro, Brazil

[4] Hosp Fed Bonsucesso, Endocrine Unit, Rio De Janeiro, Brazil

[5] Queen Mary Univ London, Barts & London Sch Med, Ctr Endocrinol, Charterhouse Sq, London EC1A 6BQ, England

来源：

PITUITARY | 2017年 / 20卷 / 01期

关键词：

Acromegaly; Genetic basis; Familial disease; AIP; ENDOCRINE NEOPLASIA TYPE-1; SPORADIC PITUITARY-ADENOMAS; X-LINKED ACROGIGANTISM; MCCUNE-ALBRIGHT SYNDROME; GERMLINE AIP MUTATIONS; DES TUMEURS ENDOCRINES; CARNEY COMPLEX; SOMATOSTATIN ANALOGS; YOUNG-PATIENTS; CLINICAL CHARACTERISTICS;

D O I：

10.1007/s11102-017-0789-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have been described and recent studies explored the landscape of somatic mutations in sporadic somatotropinomas. This short review concentrates on the current knowledge of the genetic basis of both familial and sporadic acromegaly.

引用

页码：10 / 21

页数：12

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