In:
Histopathology, Wiley, Vol. 69, No. 4 ( 2016-10), p. 551-559
Abstract:
Endometrial stromal sarcomas ( ESS s) are divided into low‐grade and high‐grade subtypes, with the latter showing more aggressive clinical behaviour. Although histology and immunophenotype can aid in the diagnosis of these tumours, genetic studies can provide additional diagnostic insights, as low‐grade ESS s frequently harbour fusions involving JAZF 1 / SUZ 12 and/or JAZF 1 / PHF 1 , whereas high‐grade ESS s are defined by YWHAE – NUTM 2A / B fusions. The aim of this study was to evaluate the utility of a next‐generation sequencing ( NGS )‐based assay in identifying ESS fusions in archival formalin‐fixed paraffin‐embedded tumour samples. Methods and results We applied an NGS ‐based fusion transcript detection assay (Archer FusionPlex Sarcoma Panel) that targets YWHAE and JAZF 1 fusions in a series of low‐grade ESS s ( n = 11) and high‐grade ESS s ( n = 5) that were previously confirmed to harbour genetic rearrangements by fluorescence in‐situ hybridization ( FISH ) and/or reverse transcription polymerase chain reaction ( RT ‐ PCR ) analyses. The fusion assay identified junctional fusion transcript sequences that corresponded to the known FISH / RT ‐ PCR results in all cases. Four low‐grade ESS s harboured JAZF 1– PHF 1 fusions with different junctional sequences, and all were correctly identified because of the open‐ended nature of the assay design, using anchored multiplex polymerase chain reaction. Seven non‐ ESS sarcomas were also included as negative controls, and no strong ESS fusion candidates were identified in these cases. Conclusions Our findings demonstrate good sensitivity and specificity of an NGS ‐based gene fusion assay in the detection of ESS fusion transcripts.
Type of Medium:
Online Resource
ISSN:
0309-0167
,
1365-2559
DOI:
10.1111/his.2016.69.issue-4
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
2006447-0
