Abstract:
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.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Miao Y,Li C,Guo J,Wang H,Gong L,Xie W,Zhang Ydoi
10.1002/mgg3.1022subject
Has Abstractpub_date
2019-12-01 00:00:00pages
e1022issue
12issn
2324-9269journal_volume
7pub_type
杂志文章abstract:BACKGROUND:IKZF1 is a relevant gene associated with the pathogenesis of acute lymphoblastic leukemia, and the rs4132601 (T>G) and rs11978267 (A>G) polymorphisms have been associated with the development of this disease in several populations. The aim of this study was to determine the allelic and genotypic frequencies ...
journal_title:Molecular genetics & genomic medicine
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更新日期:2019-02-01 00:00:00
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更新日期:2019-04-01 00:00:00
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更新日期:2019-02-01 00:00:00
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doi:10.1002/mgg3.728
更新日期:2019-07-01 00:00:00
abstract::Considering that variability in immune response genes has been associated with susceptibility to leprosy and with disease severity, leprosy presents clinicopathological variants that are highly associated with the immune response, HLA-G has a well-recognized role in the modulation of the immune response, and polymorph...
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doi:10.1002/mgg3.14
更新日期:2013-09-01 00:00:00
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abstract::The impact of cryptic relatedness (CR) on genomic association studies is well studied and known to inflate false-positive rates as reported by several groups. In contrast, conventional epidemiological studies for environmental risks, the confounding effect of CR is still uninvestigated. In this study, we investigated ...
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更新日期:2013-05-01 00:00:00
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更新日期:2020-07-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2020-01-01 00:00:00
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pub_type: 社论
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更新日期:2018-05-01 00:00:00
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更新日期:2019-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2019-08-01 00:00:00
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更新日期:2014-09-01 00:00:00