Paratesticular desmoplastic small round cell tumour: an unusual tumour with an unusual fusion; cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH.

Clinical Sarcoma Research
Vincent Pm CliteurPancras Cw Hogendoorn

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....Continue Reading

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Citations

Mar 11, 2019·Journal of Medical Case Reports·Natalia Brenneken Duarte AmbarEliana Monteiro Caran
Nov 4, 2016·International Journal of Surgical Pathology·Khin ThwayCyril Fisher
May 17, 2017·Pediatric Blood & Cancer·Laura SedigRama Jasty-Rao

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Methods Mentioned

BETA
surgical resection
Fluorescence
biopsy
electrophoresis
PCR
Adsay

Software Mentioned

COBRA

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