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促结缔组织增生性小圆细胞肿瘤:在一例罕见病例中使用荧光原位杂交作为辅助技术支持细胞学诊断

Desmoplastic small round cell tumor: using FISH as an ancillary technique to support cytologic diagnosis in an unusual case.

作者信息

Waugh Michael S, Dash Rajesh C, Turner Kristi C, Dodd Leslie G

机构信息

Division of Cytopathology, Department of Pathology, Duke University Health System, Durham, North Carolina 27710, USA.

出版信息

Diagn Cytopathol. 2007 Aug;35(8):516-20. doi: 10.1002/dc.20669.

DOI:10.1002/dc.20669
PMID:17636487
Abstract

Desmoplastic small round cell tumor is a rare and aggressive neoplasm that predominantly affects young males. In almost all cases, a reciprocal translocation is present resulting in the fusion of the Ewing sarcoma gene with the Wilms' tumor gene. Here we describe an unusual case occurring in a 59-year-old male, in which fluorescence in situ hybridization (FISH) was used in conjunction with immunohistochemical studies to confirm the diagnosis. To our knowledge, this is the first reported case of using FISH as an ancillary technique to confirm the cytologic diagnosis of this tumor.

摘要

促纤维组织增生性小圆细胞肿瘤是一种罕见且侵袭性强的肿瘤,主要影响年轻男性。几乎在所有病例中,都存在一种相互易位,导致尤因肉瘤基因与威尔姆斯瘤基因融合。在此,我们描述了一例发生在一名59岁男性身上的罕见病例,其中荧光原位杂交(FISH)与免疫组化研究相结合以确诊。据我们所知,这是首例报道使用FISH作为辅助技术来确诊该肿瘤细胞学诊断的病例。

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