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少突胶质细胞瘤的形态学和分子遗传学方面

Morphologic and molecular genetic aspects of oligodendroglial neoplasms.

作者信息

Bigner S H, Rasheed B K, Wiltshire R, McLendon R E

机构信息

Department of Pathology, Duke University Medical Center, Box 3712, Durham, NC 27710, USA.

出版信息

Neuro Oncol. 1999 Jan;1(1):52-60. doi: 10.1093/neuonc/1.1.52.

DOI:10.1093/neuonc/1.1.52
PMID:11550302
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1919462/
Abstract

Morphologic criteria for diagnosing oligodendrogliomas and for classifying them as well-differentiated (World Health Organization grade II) and anaplastic (World Health Organization grade III) are well recognized. Nevertheless, applying these guidelines to specific cases often reveals discrepancies among different observers. In addition, whether a given tumor also contains an astrocytic component may be debatable. Loss of heterozygosity studies have demonstrated that oligodendroglial neoplasms have a high incidence of loss of the 1p and 19q chromosomal arms. Although loss of heterozygosity for portions of 19q are sometimes seen in astrocytic neoplasms, these tumors seldom show complete loss of 19q accompanied by loss of 1p. Loss of 9p or homozygous deletion of the CDKN2 gene or both are associated with anaplastic oligodendrogliomas, whereas loss of 17p or TP53 gene mutations or both are frequent in astrocytomas, but rare in oligodendrogliomas. These observations suggest that molecular genetic parameters could provide an objective, reproducible framework for classifying oligodendroglial neoplasms.

摘要

诊断少突胶质细胞瘤以及将其分类为高分化(世界卫生组织二级)和间变性(世界卫生组织三级)的形态学标准已得到广泛认可。然而,将这些指南应用于具体病例时,不同观察者之间往往存在差异。此外,特定肿瘤是否还包含星形细胞成分也可能存在争议。杂合性缺失研究表明,少突胶质细胞瘤中1号染色体短臂(1p)和19号染色体长臂(19q)缺失的发生率很高。虽然在星形细胞瘤中有时可见19q部分区域的杂合性缺失,但这些肿瘤很少表现出19q的完全缺失并伴有1p缺失。9号染色体短臂(9p)缺失或CDKN2基因纯合缺失或两者兼而有之与间变性少突胶质细胞瘤相关,而17号染色体短臂(17p)缺失或TP53基因突变或两者兼而有之在星形细胞瘤中很常见,但在少突胶质细胞瘤中很少见。这些观察结果表明,分子遗传学参数可为少突胶质细胞瘤的分类提供一个客观、可重复的框架。

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