睑裂
生物
生殖系
叉头转录因子
体细胞
颗粒细胞
种系突变
错义突变
突变
遗传学
卵巢
基因
癌症研究
转录因子
上睑下垂
药理学
作者
Aysha Mubeen,Carlos Parra‐Herran
标识
DOI:10.1136/jcp-2023-208827
摘要
The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. Germline FOXL2 mutations have been identified in blepharophimosis/ptosis/epicanthus inversus syndrome. The somatic missense mutation in FOXL2 (FOXL2 C134W) is now known to be the defining molecular feature of adult-type granulosa cell tumour of the ovary, present in over 90% of cases of this tumour type. Immunohistochemistry for FOXL2 is used as a marker of sex cord-stromal differentiation. However, expression is not restricted to lesions harbouring FOXL2 mutations, and it is positive in a variety of sex cord-stromal proliferations other than adult-type granulosa cell tumour.
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