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易位（4；19）（q35；q13.1）相关的原始圆形细胞肉瘤：一例报告并文献复习

Translocation (4;19)(q35;q13.1)-associated primitive round cell sarcoma: report of a case and review of the literature.

作者信息

Rakheja Dinesh, Goldman Stanton, Wilson Kathleen S, Lenarsky Carl, Weinthal Joel, Schultz Roger A

机构信息

Department of Pathology, Children's Medical Center, and UT Southwestern Medical Center, Dallas, TX, USA.

出版信息

Pediatr Dev Pathol. 2008 May-Jun;11(3):239-44. doi: 10.2350/07-06-0296.1. Epub 2007 Jul 16.

DOI:10.2350/07-06-0296.1
PMID:17990934
Abstract

We report the 4th case of a primitive round cell sarcoma with the translocation (4;19)(q35;q13.1) as the primary cytogenetic abnormality. This undifferentiated sarcoma shows some features of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), including a diffuse reactivity for FLI1, but it shows only focal and weak reactivity for CD99 and is negative for a rearrangement of EWS, the molecular signature of ES/PNET. Recognition of the histopathologic and cytogenetic features of this entity is necessary to avoid its misdiagnosis as ES/PNET, especially in small biopsy samples.

摘要

我们报告了第4例以易位(4;19)(q35;q13.1)作为主要细胞遗传学异常的原始圆形细胞肉瘤。这种未分化肉瘤表现出一些尤因肉瘤/原始神经外胚层肿瘤(ES/PNET)的特征，包括对FLI1呈弥漫性反应，但对CD99仅呈局灶性弱阳性反应，且EWS重排呈阴性，而EWS重排是ES/PNET的分子特征。认识该实体的组织病理学和细胞遗传学特征对于避免将其误诊为ES/PNET很有必要，尤其是在小活检样本中。

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