The Genetics of Pituitary Adenomas

被引：35

作者：

Tatsi, Christina ^{[1
]}

Stratakis, Constantine A. ^{[1
]}

机构：

[1] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, NIH, Bethesda, MD 20892 USA

来源：

JOURNAL OF CLINICAL MEDICINE | 2020年 / 9卷 / 01期

基金：

美国国家卫生研究院;

关键词：

gene; pituitary; tumor; LINKED ACROGIGANTISM SYNDROME; ENDOCRINE NEOPLASIA SYNDROME; SPOTTY SKIN PIGMENTATION; INTERACTING PROTEIN GENE; TUMOR-SUPPRESSOR GENE; GROWTH-HORMONE EXCESS; GERM-LINE MUTATIONS; CARNEY COMPLEX; NEUROFIBROMATOSIS TYPE-1; CORTICOTROPH ADENOMA;

D O I：

10.3390/jcm9010030

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in AIP (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), MEN1 (coding for menin, mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), PRKAR1A (mutated in Carney complex), GPR101 (involved in X-Linked Acrogigantism or X-LAG), and SDHx (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs. Tumor genetic defects in USP8, GNAS, USP48 and BRAF are some of the commonly encountered tissue-specific changes and may explain a larger percentage of the developed tumors. Somatic (at the tumor level) genomic changes, copy number variations (CNVs), epigenetic modifications, and differential expression of miRNAs, add to the variable genetic background of PAs.

引用

页数：19