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Novel high-grade endometrial stromal sarcoma: a morphologic mimicker of myxoid leiomyosarcoma
Hoang, Lien N.; Aneja, Amandeep; Conlon, Niamh; Delair, Deborah F.; Middha, Sumit; Benayed, Ryma; Hensley, Martee L.; Park, Kay J.; Hollmann, Travis J.; Hameed, Meera R.; Antonescu, Cristina R.; Soslow, Robert A.; Chiang, Sarah
Endometrial stromal sarcomas (ESS) are often underpinned by recurrent chromosomal translocations resulting in the fusion of genes involved in epigenetic regulation. To date, only YWHAE-NUTM2 rearrangements are associated with distinctive high-grade morphology and aggressive clinical behavior. We identified 3 ESS morphologically mimicking myxoid leiomyosarcoma of the uterus and sought to describe their unique histopathologic features and identify genetic alterations using next-generation sequencing. All cases displayed predominantly spindled cells associated with abundant myxoid stroma and brisk mitotic activity. Tumors involved the endometrium and demonstrated tongue-like myometrial infiltration. All 3 were associated with an aggressive clinical course, including multisite bony metastases in 1 patient, progressive peritoneal disease after chemotherapy in another and metastases to the lung and skin in the last patient. All 3 ESS were found to harbor ZC3H7B-BCOR gene fusions by targeted sequencing and fluorescence in situ hybridization. On the basis of the review of these cases, we find that ESS with ZC3H7B-BCOR fusion constitutes a novel type of high-grade ESS and shares significant morphologic overlap with myxoid leiomyosarcoma.
Keyword(s): Endometrial stromal sarcoma; Uterine sarcoma; ZC3H7B; BCOR; Translocation; Myxoid leiomyosarcoma; Polycomb repressor complex
Publication Date:
Type: Journal article
Peer-Reviewed: Yes
Language(s): English
Institution: University College Cork
Citation(s): Hoang, L. N., Aneja, A., Conlon, N., Delair, D. F., Middha, S., Benayed, R., Hensley, M. L., Park, K. J., Hollmann, T. J., Hameed, M. R., Antonescu, C. R., Soslow, R. A. and Chiang, S. (2017) ‘Novel high-grade endometrial stromal sarcoma: a morphologic mimicker of myxoid leiomyosarcoma’, American Journal of Surgical Pathology, 41(1), pp. 12-24. doi: 10.1097/PAS.0000000000000721
Publisher(s): Lippincott, Williams & Wilkins
File Format(s): application/pdf
First Indexed: 2018-06-06 06:30:57 Last Updated: 2018-06-06 06:30:57