Atypical EWSR1 FISH signal patterns in bone and soft tissue tumours:- diagnostic experience with 135 cases (original) (raw)

Histopathology, 2016

Abstract

Recurrent EWSR1 gene rearrangements characterise a select group of bone and soft tissue tumours. In our routine diagnostic practice with fluorescence in situ hybridisation (FISH), we have occasionally observed EWSR1 gene rearrangements in tumours not classically associated with EWSR1 translocations. This study aimed to review our institutional experience of this phenomenon and also to highlight the occurrence of unusual EWSR1 FISH signals (i.e. 5' centromeric region or 3' telomeric region signals) that do not fulfill the published diagnostic criteria for rearrangements. Using an EWSR1 break-apart probe, we performed FISH assays on formalin-fixed paraffin embedded tissue sections from 135 bone and soft tissue specimens as part of their routine diagnostic workup. EWSR1 gene rearrangements were identified in 51% of cases, 56% of which also showed an abnormal FISH signal pattern (in addition to classically rearranged signals). However, atypical FISH signals were present in 45% o...

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