Roberts P, Burchill S A, Beddow R A, Wheeldon J, Cullinane C, Lewis I J
Regional Cytogenetics Unit, St. James's University Hospital, Leeds, UK.
Cancer Genet Cytogenet. 1999 Jan 1;108(1):19-25. doi: 10.1016/s0165-4608(98)00103-4.
Desmoplastic small round cell tumor (DSRCT) has recently been described as a discrete tumor entity. It is distinguished from other small round cell tumors by its prominent desmoplastic quality, its preponderance in adolescent males, its almost exclusive intraabdominal location, a multi-immunophenotypic profile, and its aggressive nature. Diagnosis on histology alone is not always unequivocal. A recurrent t(11;22)(p13;q12) translocation has recently been described in this tumor, and a chimeric RNA fusion product formed from the WT1 and EWS genes is detectable by reverse transcriptase-polymerase chain reaction (RT-PCR). We describe the use of a multi-faceted approach using conventional G-banding, fluorescence in situ hybridization (FISH) and RT-PCR to assist the diagnosis of a case of DSRCT with a complex variant t(11;22;21)(p13;q12;q22.1) translocation and demonstrate the value of a combined approach to genetic investigation of solid tumors.
促结缔组织增生性小圆细胞肿瘤（DSRCT）最近被描述为一种独立的肿瘤实体。它与其他小圆细胞肿瘤的区别在于其显著的促结缔组织增生特性、在青少年男性中更为常见、几乎仅位于腹腔内、具有多种免疫表型特征以及其侵袭性。仅依靠组织学诊断并不总是明确的。最近在这种肿瘤中发现了复发性t(11;22)(p13;q12)易位，并且通过逆转录聚合酶链反应（RT-PCR）可检测到由WT1和EWS基因形成的嵌合RNA融合产物。我们描述了使用一种多方面的方法，包括传统的G显带、荧光原位杂交（FISH）和RT-PCR，来辅助诊断一例具有复杂变异t(11;22;21)(p13;q12;q22.1)易位的DSRCT病例，并证明了联合方法在实体瘤基因研究中的价值。
