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Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
by
Wang, Hongyun
, Gong, Lei
, Zhang, Yazhuo
, Li, Chuzhong
, Miao, Yazhou
, Xie, Weiyan
, Guo, Jing
in
Adenoma
/ Adult
/ Animals
/ Bone mass
/ Cell Line, Tumor
/ Cell Proliferation
/ Cloning
/ Deoxyribonucleic acid
/ DNA
/ Dopamine receptors
/ Down-Regulation
/ Drug resistance
/ Gene Expression Regulation, Neoplastic
/ Gene sequencing
/ Genomes
/ HEK293 Cells
/ Humans
/ Infertility
/ Male
/ Medical research
/ Mutation
/ NMR
/ Nuclear magnetic resonance
/ Original
/ Pituitary
/ Pituitary Neoplasms - genetics
/ Plasmids
/ POU Domain Factors - genetics
/ POU6F2
/ Prolactin
/ prolactinoma
/ Prolactinoma - genetics
/ Proteins
/ Rats
/ Researchers
/ Secretion
/ Studies
/ Transcription factors
/ Tumors
/ Whole Genome Sequencing - methods
/ whole‐genome sequencing
2019
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Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
by
Wang, Hongyun
, Gong, Lei
, Zhang, Yazhuo
, Li, Chuzhong
, Miao, Yazhou
, Xie, Weiyan
, Guo, Jing
in
Adenoma
/ Adult
/ Animals
/ Bone mass
/ Cell Line, Tumor
/ Cell Proliferation
/ Cloning
/ Deoxyribonucleic acid
/ DNA
/ Dopamine receptors
/ Down-Regulation
/ Drug resistance
/ Gene Expression Regulation, Neoplastic
/ Gene sequencing
/ Genomes
/ HEK293 Cells
/ Humans
/ Infertility
/ Male
/ Medical research
/ Mutation
/ NMR
/ Nuclear magnetic resonance
/ Original
/ Pituitary
/ Pituitary Neoplasms - genetics
/ Plasmids
/ POU Domain Factors - genetics
/ POU6F2
/ Prolactin
/ prolactinoma
/ Prolactinoma - genetics
/ Proteins
/ Rats
/ Researchers
/ Secretion
/ Studies
/ Transcription factors
/ Tumors
/ Whole Genome Sequencing - methods
/ whole‐genome sequencing
2019
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Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
by
Wang, Hongyun
, Gong, Lei
, Zhang, Yazhuo
, Li, Chuzhong
, Miao, Yazhou
, Xie, Weiyan
, Guo, Jing
in
Adenoma
/ Adult
/ Animals
/ Bone mass
/ Cell Line, Tumor
/ Cell Proliferation
/ Cloning
/ Deoxyribonucleic acid
/ DNA
/ Dopamine receptors
/ Down-Regulation
/ Drug resistance
/ Gene Expression Regulation, Neoplastic
/ Gene sequencing
/ Genomes
/ HEK293 Cells
/ Humans
/ Infertility
/ Male
/ Medical research
/ Mutation
/ NMR
/ Nuclear magnetic resonance
/ Original
/ Pituitary
/ Pituitary Neoplasms - genetics
/ Plasmids
/ POU Domain Factors - genetics
/ POU6F2
/ Prolactin
/ prolactinoma
/ Prolactinoma - genetics
/ Proteins
/ Rats
/ Researchers
/ Secretion
/ Studies
/ Transcription factors
/ Tumors
/ Whole Genome Sequencing - methods
/ whole‐genome sequencing
2019
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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.
Publisher
John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
Subject
/ Adult
/ Animals
/ Cloning
/ DNA
/ Gene Expression Regulation, Neoplastic
/ Genomes
/ Humans
/ Male
/ Mutation
/ NMR
/ Original
/ Pituitary Neoplasms - genetics
/ Plasmids
/ POU Domain Factors - genetics
/ POU6F2
/ Proteins
/ Rats
/ Studies
/ Tumors
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