The application of next‐generation sequencing‐based molecular diagnostics in endometrial stromal sarcoma

Abstract

Our findings demonstrate good sensitivity and specificity of an NGS-based gene fusion assay in the detection of ESS fusion transcripts.

Novel EPC1 gene fusions in endometrial stromal sarcoma

“…Fusion genes in endometrial stromal sarcoma are amenable to detection through next generation sequencing, 26 and inherent to such testing methodologies is the identification of novel fusion products. To date, many of the gene fusion partners in both low-grade and high-grade endometrial stromal sarcoma remain to be identified; furthermore, the implicit biologic potential associated with these fusions remains to be fully characterized.…”

“…To date, many of the gene fusion partners in both low-grade and high-grade endometrial stromal sarcoma remain to be identified; furthermore, the implicit biologic potential associated with these fusions remains to be fully characterized. Fusion genes in endometrial stromal sarcoma are amenable to detection through next generation sequencing, 26 and inherent to such testing methodologies is the identification of novel fusion products. Herein, we report two novel EPC1 genetic fusions arising from next generation sequencing in endometrial stromal sarcoma:…”

Comprehensive screening for MED12 mutations in gynaecological mesenchymal tumours identified morphologically distinctive mixed epithelial and stromal tumours

“…The clinical data were collected. In addition, 14 untreated, molecularly well‐characterized [with fluorescence in‐situ hybridization (FISH) and/or next‐generation sequencing] endometrial stromal sarcomas (ESSs) were analysed, including nine low‐grade cases with JAZF1–SUZ12 fusion ( n = 6) or PHF1 rearrangement ( n = 3) and five high‐grade cases with YWHAE–NUTM2A/B fusion, as previously described . All of these ESSs were primary tumours, except for one metastatic lung tumour with JAZF1–SUZ12 fusion.…”

Endometrial stromal sarcoma: A review of rare mesenchymal uterine neoplasm

“…Several authors suggest that JAZF1-SUZ12 fusion should become a specific tool when the diagnosis of ESS is unclear or difficult and it might be useful to differentiate LG-ESS from other smooth muscle uterine tumors. 26,27 Micci et al 28 have demonstrated the recombination between the PHF1 gene (PHD finger protein 1, from chromosomal band 6p21) and JAZF1 (JAZF1-PHF1). Further studies have shown the recombination between PHF1 and other genes (EPC1, MEAF6 or BRD8); these genes fusions encode proteins involved in transcriptional regulation 29 and their presumed oncogenic effects may be a lead part of the pathogenesis of ESS.…”