一例伴有环状5号染色体和重排的22号染色体（包含扩增的COL1A1和PDGFB序列）的隆突性皮肤纤维肉瘤。

A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences.

作者信息

Gisselsson D, Höglund M, O'Brien K P, Dumanski J P, Mertens F, Mandahl N

机构信息

Department of Clinical Genetics, Lund University Hospital, Sweden.

出版信息

Cancer Lett. 1998 Nov 27;133(2):129-34. doi: 10.1016/s0304-3835(98)00223-7.

DOI:10.1016/s0304-3835(98)00223-7

PMID:10072161

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a cutaneous tumour of borderline malignancy, the cytogenetic features of which include the translocation t(17;22)(q22;q13) or, more commonly, supernumerary ring chromosomes containing material from 17q22 and 22q13. These rearrangements result in the COL1A1/PDGFB fusion gene. Here, we describe a case of DFSP displaying a ring chromosome 5 together with a large marker chromosome composed of chromosome 22 alphoid DNA, material from distal 12q and amplified COL1A1 and PDGFB sequences. This is the first case of DFSP with multiple copies of COL1A1 and PDGFB not confined to ring chromosomes, showing that DFSP is similar to other borderline malignant mesenchymal tumours, where rings and giant markers are alternative vehicles for amplified material.

摘要

隆突性皮肤纤维肉瘤（DFSP）是一种交界性恶性皮肤肿瘤，其细胞遗传学特征包括t(17;22)(q22;q13)易位，或更常见的是包含17q22和22q13物质的额外环状染色体。这些重排导致COL1A1/PDGFB融合基因的产生。在此，我们描述了一例DFSP病例，该病例显示一条环状5号染色体以及一条由22号染色体α卫星DNA、12q远端物质、扩增的COL1A1和PDGFB序列组成的大标记染色体。这是首例DFSP中COL1A1和PDGFB有多个拷贝且不限于环状染色体的病例，表明DFSP与其他交界性恶性间叶肿瘤相似，在这些肿瘤中，环状染色体和巨大标记染色体是扩增物质的替代载体。