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Neurofibromatosis type 2 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma

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International Journal of Ophthalmology(English edition) 2019年第4期12卷 571-576页

作者： Agus Supartoto Indra Tri Mahayana Didik Setyo Heriyanto Muhammad Bayu Sasongko Henricus Datu Respatika Dhimas Hari Sakti prima sugesty nurlaila Hari Kusnanto Suhardjo Pawiroranu Sofia Mubarika Haryana Department of Ophthalmology Faculty of Medicine Public Health and Nursing Universitas Gadjah Mada-Dr.Sardjito General Hospital Department of Pathological Anatomy Faculty of Medicine Public Health and Nursing Universitas Gadjah Mada Department of Biostatistics Epidemiology and Population Health Faculty of Medicine Public Health and NursingUniversitas Gadjah Mada Department of Histology and Cell Biology Faculty of Medicine Public Health and Nursing Universitas Gadjah Mada

AIM: To investigate neurofibromatosis type 2(NF2) gene mutation at mRNA levels in sporadic orbitocranial meningioma and its association with progesterone receptor(PR) mR NA ***: 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.634 C>T/p.Q212, c.655 G>A/p.V219 M, c.784 C>T/p.R262 and c.1228 C>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<0.001). PR mR NA was found significantly lower in nonmutation group(P=0.033) which presumed as long term exogenous progesterone exposure. However, mutation group was associated with higher rate of progression to gradeⅡ(mutation vs non-mutation, 18.2% vs 5%, P<0.001) and was associated more in fibrous and anaplastic tumor ***: NF2 mutation-meningioma is associated with higher grade of meningioma. Non NF2 mutationmeningioma is strongly associated with exogenous progesterone exposure and lower PR expression.

关键词： orbitocranial meningioma neurofibromatosis type 2 progesterone receptor hormonal contraception real time PCR

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