Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases.

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Abstract

Recurrent Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangements characterize a select group of bone and soft tissue tumours. In our routine diagnostic practice with fluorescence in-situ hybridization (FISH), we have occasionally observed EWSR1 gene rearrangements in tumours not associated classically 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 fulfil the published diagnostic criteria for rearrangements.

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Journal

Journal ID (iso-abbrev): Histopathology

Title: Histopathology

Publisher: Wiley

ISSN (Electronic): 1365-2559

ISSN (Print): 0309-0167

Publication date (Electronic): Dec 2016

Volume: 69

Issue: 6

Affiliations

[1 ] Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.

[2 ] Douglass Hanly Moir Pathology, Macquarie Park, NSW, Australia.

[3 ] Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

[4 ] School of Medicine, University of Western Sydney, Campbelltown, NSW, Australia.

[5 ] Chris O'Brien Lifehouse, Camperdown, NSW, Australia.

[6 ] Orthopaedic Surgery, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.

[7 ] Macquarie University, North Ryde, NSW, Australia.

[8 ] The Children's Hospital, Westmead, NSW, Australia.

[9 ] North Shore Private Hospital, St Leonards, NSW, Australia.

[10 ] Radiology/Medical Imaging, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.

[11 ] The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.

[12 ] School of Medicine, Notre Dame University, Sydney, NSW, Australia.

Article

DOI: 10.1111/his.13031

PubMed ID: 27385661

SO-VID: 67bbdd6b-39ab-4a1c-9252-2b7aab08a842

History

Keywords: EWSR1-associated tumours,rearrangement,fluorescence in-situ hybridization

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Keywords: EWSR1-associated tumours, rearrangement, fluorescence in-situ hybridization

Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases.

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