机构：[1]Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China研究所北京市神经外科研究所首都医科大学附属天坛医院[2]Department of Neurosurgery, Beijing Tiantan Hospital Affiliated to Capital Medical University, Beijing, China重点科室诊疗科室神经外科首都医科大学附属天坛医院
Background Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)-secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. Methods Here, we present a patient with an extremely aggressive and giant prolactinoma accompanied by serious destruction of the surrounding bone mass. This patient exhibited resistance to dopaminergic drugs. Through whole-genome sequencing, we identified two novel somatic mutations in the POU6F2 gene (NM_001166018.2: c. 839 C>T; NM_001166018.2: c. 875A>G). Results This report is the first to identify these somatic mutations in the POU6F2 gene in a prolactinoma. We found that these two mutations obviously decreased the expression level of POU6F2. Inhibition of POU6F2 activity increased the cell proliferation and PRL secretion in rat pituitary cells, but proliferation and PRL secretion were decreased in cells with POU6F2 overexpression. Conclusions POU6F2 might play a crucial role in the development of prolactinomas and may be a promising target for developing new therapies against prolactinomas.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81672495, 81771489]; Beijing Nova ProgramBeijing Municipal Science & Technology Commission [Z131102000413024]; Beijing Talents Fund [2015000021223ZK24]
第一作者机构：[1]Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China
通讯作者：
通讯机构：[1]Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China[2]Department of Neurosurgery, Beijing Tiantan Hospital Affiliated to Capital Medical University, Beijing, China[*1]Department of Cell Biology, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.
推荐引用方式(GB/T 7714)：
Miao Yazhou,Li Chuzhong,Guo Jing,et al.Identification of a novel somatic mutation of POU6F2 by whole-genome sequencing in prolactinoma[J].Molecular genetics & genomic medicine.2019,-.doi:10.1002/mgg3.1022.
APA：
Miao, Yazhou,Li, Chuzhong,Guo, Jing,Wang, Hongyun,Gong, Lei...&Zhang, Yazhuo.(2019).Identification of a novel somatic mutation of POU6F2 by whole-genome sequencing in prolactinoma.Molecular genetics & genomic medicine,,
MLA：
Miao, Yazhou,et al."Identification of a novel somatic mutation of POU6F2 by whole-genome sequencing in prolactinoma".Molecular genetics & genomic medicine .(2019):-
