Neurofibromatosis type 2 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma
| Autor: | Hari Kusnanto, Didik Setyo Heriyanto, Sofia Mubarika Haryana, Agus Supartoto, Indra Tri Mahayana, Henricus Datu Respatika, Prima Sugesty Nurlaila, Muhammad Bayu Sasongko, Suhardjo Pawiroranu, Dhimas Hari Sakti |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
neurofibromatosis type 2 Gene mutation progesterone receptor 03 medical and health sciences NF2 Gene Mutation 0302 clinical medicine Germline mutation lcsh:Ophthalmology Internal medicine Progesterone receptor medicine otorhinolaryngologic diseases Neurofibromatosis type 2 business.industry hormonal contraception medicine.disease orbitocranial meningioma Ophthalmology real time PCR Basic Research Endocrinology Real-time polymerase chain reaction lcsh:RE1-994 Mutation (genetic algorithm) 030221 ophthalmology & optometry Mutation testing business |
| Zdroj: | International Journal of Ophthalmology, Vol 12, Iss 4, Pp 571-576 (2019) |
| ISSN: | 2227-4898 2222-3959 |
| Popis: | AIM: To investigate neurofibromatosis type 2 (NF2) gene mutation at mRNA levels in sporadic orbitocranial meningioma and its association with progesterone receptor (PR) mRNA expression. METHODS: This was a case-control study. Thirty-four sporadic meningioma patients with no familial NF2-related meningioma history were recruited. They were interviewed for their obstetric, gynecologic, and contraception history. PR investigation was performed with real-time polymerase chain reaction (PCR). NF2 mutation was investigated using Qbiomarker Somatic Mutation PCR Assay at NF2 mRNA level after its cDNA extraction (four mRNA mutation cytoband coordinates for nucleotide change: c.634C>T/p.Q212, c.655G>A/p.V219M, c.784C>T/p.R262 and c.1228C>T/p. Q410). RESULTS: After mutation analysis at mRNA level, NF2 gene mutation was found in 35.29% patients. Non-mutation group was strongly associated with exogenous hormonal exposure (non-mutation vs mutation: 95.5% vs 83.3%, P |
| Databáze: | OpenAIRE |
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