Multiple EWSR1-WT1 and WT1-EWSR1 copies in two cases of desmoplastic round cell tumor

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• 作者：Roberta La Starza ; Gianluca Barba ; Valeria Nofrini ; Tiziana Pierini ; Valentina Pierini ; Luca Marcomigni ; Katia Perruccio ; Caterina Matteucci ; Clelia Tiziana Storlazzi ; Giulia Daniele ; Barbara Crescenzi ; Michele Giansanti ; Paolo Giovenali ; Paola Dal Cin ; Cristina Mecucci
• 关键词：EWSR1-WT1 ; FISH ; M-CGH
• 刊名：Cancer Genetics
• 出版年：November, 2013
• 年：2013
• 卷：206
• 期：11
• 页码：387-392
• 全文大小：2341 K

文摘

To provide new insights into the genomic profile of desmoplastic round cell tumors (DSRCT), we applied fluorescence in situ hybridization (FISH) and metaphase comparative genomic hybridization (M-CGH) to two newly diagnosed cases. FISH detected multiple subclones bearing one to three copies of der(11)t(11;22)(p13;q12) and/or der(22)t(11;22)(p13;q12) in both patients. This peculiar genomic imbalance might result from derivative chromosome duplication due to non-disjunction and/or mitotic recombination between normal and derivative chromosomes 11 and 22. Concomitant loss of normal chromosomes (i.e., 11 in patient 1 and 22 in patient 2) caused loss of the WT1 or EWSR1 wild-type allele. M-CGH identified other genomic imbalances: gain at chromosome 3 in both cases and chromosome 5 polysomy in patient 1. Common genomic events (i.e., trisomy 3 and extra EWSR1-WT1 and WT1-EWSR1 copies) probably contributed to disease pathogenesis and/or evolution of DSRCT. Our study demonstrated that an integrated molecular cytogenetic approach identified EWSR1-WT1 cooperating molecular events and genetic markers for prognosis. Thus, FISH and M-CGH might well be applied in a large series of patients to elucidate the genomic background of DSRCT.