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

Novel high-grade endometrial stromal sarcoma: a morphologic mimicker of myxoid leiomyosarcoma

Files

nihms862308 (1).pdf(4.02 MB)

Accepted Version

Date

2017-01

Authors

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.

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Publisher

Lippincott, Williams & Wilkins

Published Version

10.1097/PAS.0000000000000721

Abstract

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.

Keywords

Endometrial stromal sarcoma , Uterine sarcoma , ZC3H7B , BCOR , Translocation , Myxoid leiomyosarcoma , Polycomb repressor complex

Citation

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