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少突星形细胞瘤:具有真正双基因型的逐渐消失的实体瘤,一份报告、其分子特征及文献综述

Oligoastrocytoma: The Vanishing Entity With True Dual Genotype, a Report, its Molecular Profiles and Review of Literature.

作者信息

Das Sumanta, Ahlawat Sunita, Sarangi Jayati, Gupta Rakesh Kumar, Jain Priti, Kate Ushang, Gogi Ramana, Patir Rana

机构信息

Department of Pathology, Agilus Diagnostic Ltd, Fortis Memorial Research Institute, Gurugram, India.

Department of Radiology, Fortis Memorial Research Institute, Gurugram, Haryana, India.

出版信息

Int J Surg Pathol. 2025 Aug;33(5):1216-1223. doi: 10.1177/10668969241300503. Epub 2024 Dec 19.

Abstract

Isocitrate dehydrogenase (IDH) mutant gliomas are classified as astrocytoma or oligodendroglioma based on the recent application of mutation, mutation, and 1p/19q co-deletion. Astrocytomas classically show and mutations, whereas oligodendrogliomas are defined by 1p/19q co-deletion. However, there are reports of gliomas that harbor both astrocytoma and oligodendroglioma morphologically and molecularly. Here we present a patient of a 29-year-old woman who presented with a headache and underwent gross total excision. Magnetic resonance imaging showed a right frontal space-occupying lesion with T2 fluid-attenuated inversion recovery mismatch. Histology showed 2 distinct areas of morphology compatible with oligodendroglioma and astrocytoma. Immunohistochemistry showed both components being positive for IDH R132H. Alpha thalassemia/mental retardation syndrome X-linked (ATRX) showed loss of nuclear expression and p53 was strongly positive in the morphologic astrocytoma component, whereas ATRX was retained and p53 was negative in the morphologic oligodendroglioma component. Fluorescence in situ hybridization showed 1p/19q co-deletion in the oligodendroglioma component while co-deletion was absent in the astrocytoma component. mutation was present in the oligodendroglioma component, whereas it was absent in the astrocytoma component. Although rare, gliomas harboring both oligodendroglioma and astrocytoma components in a single tumor exist and show genetically distinct areas.

摘要

异柠檬酸脱氢酶(IDH)突变型胶质瘤根据最近对 突变、 突变和1p/19q共缺失的应用,被分类为星形细胞瘤或少突胶质细胞瘤。经典的星形细胞瘤表现为 和 突变,而少突胶质细胞瘤则由1p/19q共缺失定义。然而,有报道称存在在形态学和分子水平上同时具有星形细胞瘤和少突胶质细胞瘤特征的胶质瘤。在此,我们报告一名29岁女性患者,她因头痛就诊并接受了肿瘤全切术。磁共振成像显示右侧额叶占位性病变,T2加权液体衰减反转恢复序列存在不匹配。组织学显示有两个形态学上分别与少突胶质细胞瘤和星形细胞瘤相符的不同区域。免疫组织化学显示两个成分的IDH R132H均呈阳性。X连锁的α地中海贫血/智力发育迟缓综合征(ATRX)显示核表达缺失,p53在形态学上的星形细胞瘤成分中呈强阳性,而在形态学上的少突胶质细胞瘤成分中ATRX保留且p53呈阴性。荧光原位杂交显示少突胶质细胞瘤成分存在1p/19q共缺失,而星形细胞瘤成分不存在共缺失。 突变存在于少突胶质细胞瘤成分中,而在星形细胞瘤成分中不存在。虽然罕见,但单个肿瘤中同时含有少突胶质细胞瘤和星形细胞瘤成分的胶质瘤确实存在,并且显示出基因上不同的区域。

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