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伴有软骨分化的黏液样脂肪肉瘤:一项细胞遗传学分析的病例研究

Myxoid liposarcoma with cartilaginous differentiation: a case study with cytogenetical analysis.

作者信息

Kim Hyunchul, Hwangbo Won, Ahn Sangjeong, Kim Suhjin, Kim Insun, Kim Chul Hwan

机构信息

Department of Pathology, Korea University Anam Hospital, Korea University College of Medicine, Seoul, Korea.

出版信息

Korean J Pathol. 2013 Jun;47(3):284-8. doi: 10.4132/KoreanJPathol.2013.47.3.284. Epub 2013 Jun 25.

Abstract

Myxoid liposarcoma is a subtype of liposarcoma. This specific subtype can be identified based on its characteristic histological and cytogenetical features. The tumor has a fusion transcript of the CHOP and TLS genes, which is caused by t(12;16)(q13;p11). Most of the fusion transcripts that have been identified fall into three categories, specifically type I (exons 7-2), type II (exons 5-2), and type III (exons 8-2). A total of seven myxoid liposarcomas associated with the rare phenomenon of cartilaginous differentiation have been documented in the literature. Currently, only one of these cases has been cytogenetically analyzed, and the analysis indicated that it was a type II TLS-CHOP fusion transcript in both the typical myxoid liposarcoma and cartilaginous areas. This study presents a second report of myxoid liposarcoma with cartilaginous differentiation, and includes a cytogenetical analysis of both the myxoid and cartilaginous areas.

摘要

黏液样脂肪肉瘤是脂肪肉瘤的一种亚型。这种特定亚型可根据其特征性的组织学和细胞遗传学特征来识别。该肿瘤具有CHOP和TLS基因的融合转录本,这是由t(12;16)(q13;p11)引起的。已鉴定出的大多数融合转录本分为三类,具体为I型(外显子7 - 2)、II型(外显子5 - 2)和III型(外显子8 - 2)。文献中总共记录了7例与罕见的软骨分化现象相关的黏液样脂肪肉瘤。目前,这些病例中只有1例进行了细胞遗传学分析,分析表明在典型的黏液样脂肪肉瘤和软骨区域均为II型TLS - CHOP融合转录本。本研究呈现了第二例伴有软骨分化的黏液样脂肪肉瘤报告,并包括对黏液样和软骨区域的细胞遗传学分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e0d9/3701826/b5e20fdd7b16/kjpathol-47-284-g001.jpg

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