Sudan Journal of Medical Sciences

ISSN: 1858-5051

High-impact research on the latest developments in medicine and healthcare across MENA and Africa

Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation

Published date: Sep 06 2017

Journal Title: Sudan Journal of Medical Sciences

Issue title: Sudan JMS: Volume 12 (2017), Issue No. 3

Pages: 198-206

DOI: 10.18502/sjms.v12i3.1001

Authors:
Abstract:

Background: Chordoid Meningioma is a rare brain tumour characterized genetically by loss of genetic material from chromosome 22q at cytogenetic level resulting in mutation of NF2 gene.

Objectives and case report: In the present report, we described a rare case of suprasellar chordoid meningioma, which presented in a 32-year-old-woman. Her only complain was throbbing headache. Neurological examination showed left temporal hemianopia, decreased visual acuity (3/6), and no physical abnormalities related to Castleman syndrome were noted. Cranial magnetic resonance (MR) images demonstrated a 28x15 mm mass in the sellar region, which showed iso-to low intensity that enhanced vividly after gadolinium with upwards displacement of the Optic chiasm.

Total surgical excision of the tumour was performed and subsequent histological examination of the tumour showed typical histology pattern of chordoid meningioma grade II according to the WHO classification system of meningiomas.

Genomic DNA was extracted and mutation analysis for INI1 gene using primer of exon 4, 5, 7, and 9 showed mutation involving exon 9. DNA sequencing showedheterozygosity C­­­­­­­­­­­­­­­­­­-T mutation in exon 9 of INI1 gene leading to change of amino acid serine to phenylalanine at (codon 63). The details of this case are presented with a review of the literature.

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