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Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
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Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
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Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma

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Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
Journal Article

Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma

2019
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Overview
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. It is the first report of somatic mutation in 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 prolactin (PRL) secretion in rat pituitary cells, the cell proliferation and secretion of PRL were decreased when POU6F2 overexpression was achieved.