paratesticular desmoplastic small round cell tumour an unusual tumour with an unusual fusion; cytogenetic and molecular genetic analysis combining rt-pcr and cobra-fishparatesticular多小圆细胞肿瘤一种不同寻常的肿瘤与一个不寻常的融合;.pdf

Cliteur et al. Clinical Sarcoma Research 2012, 2:3 /content/2/1/3 CLINICAL SARCOMA RESEARCH CASE REPORT Open Access Paratesticular desmoplastic small round cell tumour: an unusual tumour with an unusual fusion; cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH 1 2 3 3 4 Vincent PM Cliteur , Károly Szuhai , Hans J Baelde , Jurriaan van Dam , Hans Gelderblom and Pancras CW Hogendoorn3* Abstract Desmoplastic small round cell tumour is a rare malignant tumour with a male to female ratio of 4:1. It manifests mostly at serosal sites. Here we present a case of a 28-year-old male patient, who presented with a fast growing paratesticular mass. On biopsy nests and cords of small round cells, without a clear morphological lineage of differentiation were seen. Occasionally desmoplatic small round cell tumour shows different lines of differentiation. An unequivocal histological diagnosis might be difficult in such cases. Here we demonstrate by a combination of methods the characteristic immunohistochemical profile and - albeit unusual - molecular background and discuss the eventual link with Ewing sarcoma. Immunohistochemical studies showed a membranous staining of Keratine AE1/3 and a dot-like staining of Desmine, confirming its diagnosis. Using COBRA-FISH following a metaphase approach we demonstrated a balanced translocation, t(11;22)(p13;q12) and in RT-PCR formation of the EWSR1-WT1 fusion product, a specific translocation of desmoplastic round cell tumour. The fusion involves exon 9 of EWSR1 to exon 8 of WT1, an unusual fusion product, though earlier described in a case of a desmoplastic small round cell tumour of the hand. The EWSR