天体母细胞瘤:分子定义的实体,八例病例的临床放射学和病理学分析及文献综述

IF 2.9 4区 医学 Q2 PATHOLOGY Pathology, research and practice Pub Date : 2024-10-11 DOI:10.1016/j.prp.2024.155616
Sumanta Das , Divya Gupta , Bheru Dan Charan , Saumya Sahu , Vaishali Suri , Ajay Garg , Vivek Tandon , Ashish Suri , Mehar Chand Sharma
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引用次数: 0

摘要

星形母细胞瘤是一种独特的胶质瘤,主要发生于年轻女性,具有独特的 MN1 重排。鉴于现有文献中对星形母细胞瘤的记载有限,我们报告了 8 例星形母细胞瘤,详细介绍了其临床、放射学和组织病理学特征以及分子分析。我们对过去 8 年的神经病理学档案数据库进行了回顾性分析。我们纳入了所有接受磁共振成像(MRI)、手术切除、组织病理学检查、分子检测和随访的病例。我们对所有病例进行了免疫组化和荧光原位杂交(FISH)组织病理学检查。所有肿瘤均位于幕上区(大脑半球)。中位年龄为35.1岁,男女比例为1.6:1。最常见的临床表现是头痛。从形态上看,所有肿瘤都具有星形胶质细胞的特征,并伴有假包膜和血管周围透明化。免疫组化结果显示,EMA呈阳性,GFAP、OLIG2和D2-40的免疫反应不一。对所有病例进行的荧光原位杂交(FISH)分析显示,7 例病例存在 MN1 重排。平均随访时间为 45 个月(12 至 105 个月)。对高级别和复发性星形母细胞瘤进行了放射治疗。星形母细胞瘤是一种不常见的中枢神经系统(CNS)肿瘤,具有特征性的形态和分子特征。它们通常预后良好。诊断星形母细胞瘤需要高度怀疑,而且必须进行分子分析,以将其与其他形态学拟态肿瘤区分开来。
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Astroblastoma: A molecularly defined entity, its clinico-radiological & pathological analysis of eight cases and review of literature
Astroblastoma, a unique entity of glial tumor, predominantly occur in young women with distinctive MN1 rearrangement, Given its limited documentation in existing literature, we report eight cases of astroblastoma, detailing their clinical, radiological, and histopathological characteristics along with molecular analysis. We conducted a retrospective analysis of our neuropathology archive database spanning the past 8 years. We included all cases that underwent Magnetic Resonance Imaging (MRI), surgical resection, histopathological examination, molecular testing, and follow-up. Histopathological examination involving immunohistochemistry and Fluorescence In Situ Hybridization (FISH) was carried out for all cases. All tumors were found to be located in the supratentorial region (cerebral hemisphere). The median age of the group was 35.1 years, with a female-to-male ratio of 1.6:1. The most common clinical presentation was headache. Morphologically, all tumors exhibited astroblastic features with pseudorosettes and perivascular hyalinization. Immunohistochemistry consistently revealed positivity for EMA and variable immunoreactivity for GFAP, OLIG2, and D2–40. Fluorescence In Situ Hybridization (FISH) analysis conducted for all cases showed MN1 rearrangement in 7 cases. The mean follow-up period was 45 months (ranging from 12 to 105 months). Radiotherapy was administered for high-grade and recurrent astroblastomas. All patients are currently alive and in good health.
Astroblastomas are uncommon central nervous system (CNS) tumors with characteristics morphology and molecular signatures. They typically carry a favorable prognosis. High level suspicion is required for their diagnosis and molecular analysis is must to distinguish them from other morphological mimics.
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来源期刊
CiteScore
5.00
自引率
3.60%
发文量
405
审稿时长
24 days
期刊介绍: Pathology, Research and Practice provides accessible coverage of the most recent developments across the entire field of pathology: Reviews focus on recent progress in pathology, while Comments look at interesting current problems and at hypotheses for future developments in pathology. Original Papers present novel findings on all aspects of general, anatomic and molecular pathology. Rapid Communications inform readers on preliminary findings that may be relevant for further studies and need to be communicated quickly. Teaching Cases look at new aspects or special diagnostic problems of diseases and at case reports relevant for the pathologist''s practice.
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