Genetic Aspects of Pituitary Adenomas

被引:40
作者
Marques, Pedro [1 ]
Korbonits, Marta [1 ]
机构
[1] Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, Ctr Endocrinol, Charterhouse Sq, London EC1M 6BQ, England
关键词
Pituitary tumor; Genetics; FIPA; AIP; XLAG; MEN1; MEN4; Carney complex; ARYL-HYDROCARBON RECEPTOR; ENDOCRINE NEOPLASIA TYPE-1; INTERACTING PROTEIN GENE; MCCUNE-ALBRIGHT-SYNDROME; SPOTTY SKIN PIGMENTATION; TUMOR-TRANSFORMING GENE; LINKED ACROGIGANTISM SYNDROME; GROWTH-FACTOR RECEPTOR; STIMULATORY G-PROTEIN; CARNEY COMPLEX;
D O I
10.1016/j.ecl.2017.01.004
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Although most of pituitary adenomas are benign, they may cause significant burden to patients. Sporadic adenomas represent the vast majority of the cases, where recognized somatic mutations (eg, GNAS or USP8), as well as altered gene-expression profile often affecting cell cycle proteins have been identified. More rarely, germline mutations predisposing to pituitary adenomas-as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the pituitary (AIP or GPR101) can be identified. These alterations influence the biological behavior, clinical presentations and therapeutic responses, and their full understanding helps to provide appropriate care for these patients.
引用
收藏
页码:335 / 374
页数:40
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