4.4 Article

Genomics and Epigenomics of Pituitary Tumors: What Do Pathologists Need to Know?

期刊

ENDOCRINE PATHOLOGY
卷 32, 期 1, 页码 3-16

出版社

HUMANA PRESS INC
DOI: 10.1007/s12022-021-09663-4

关键词

Pituitary neuroendocrine tumor; Pituicytoma; Craniopharyngioma; Pituitary blastoma; Mutation; Epigenetics

向作者/读者索取更多资源

Molecular pathology has advanced our understanding of tumors, particularly in pituitary and craniopharyngioma where genetic mutations have been identified. However, these mutations have limited impact on treatment strategies. Epigenetic changes play a crucial role in the pathogenesis of sporadic pituitary neoplasms.
Molecular pathology has advanced our understanding of many tumors and offers opportunities to identify novel therapies. In the pituitary, the field has uncovered several genetic mutations that predispose to pituitary neuroendocrine tumor (PitNET) development, including MEN1, CDKN1B, PRKRI alpha, AIP, GPR101, and other more rare events; however, these genes are only rarely mutated in sporadic PitNETs. Recurrent genetic events in sporadic PitNETs include GNAS mutations in a subset of somatotroph tumors and ubiquitin-specific peptidase mutations (e.g., USP8, USP48) in some corticotroph tumors; to date, neither of these has resulted in altered management, and instead, the prognosis and management of PitNETs still rely more on cell type and subtype as well as local growth that determines surgical resectability. In contrast, craniopharyngiomas have either CTNNB1 or BRAF(V600E) mutations that correlate with adamantinomatous or papillary morphology, respectively; the latter offers the opportunity for targeted therapy. DICER1 mutations are found in patients with pituitary blastoma. Epigenetic changes are implicated in the pathogenesis of the more common sporadic pituitary neoplasms including the majority of PitNETs and tumors of pituicytes.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.4
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据