title: Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma.
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.
authors.affiliation: *Department of Pathology, Memorial Sloan Kettering Cancer Center ‡Gynecologic Medical Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College, New York, NY †Department of Pathology, Cork University Hospital, Wilton, Cork, Ireland.
authors.forename: Lien N
authors.initials: LN
authors.lastname: Hoang
authors.forename: Amandeep
authors.initials: A
authors.lastname: Aneja
authors.forename: Niamh
authors.initials: N
authors.lastname: Conlon
authors.forename: Deborah F
authors.initials: DF
authors.lastname: Delair
authors.forename: Sumit
authors.initials: S
authors.lastname: Middha
authors.forename: Ryma
authors.initials: R
authors.lastname: Benayed
authors.forename: Martee L
authors.initials: ML
authors.lastname: Hensley
authors.forename: Kay J
authors.initials: KJ
authors.lastname: Park
authors.forename: Travis J
authors.initials: TJ
authors.lastname: Hollmann
authors.forename: Meera R
authors.initials: MR
authors.lastname: Hameed
authors.forename: Cristina R
authors.initials: CR
authors.lastname: Antonescu
authors.forename: Robert A
authors.initials: RA
authors.lastname: Soslow
authors.forename: Sarah
authors.initials: S
authors.lastname: Chiang
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D003937:Diagnosis, Differential; D016889:Endometrial Neoplasms / Q000235:genetics / Q000473:pathology*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007890:Leiomyosarcoma / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D060787:Neoplasm Grading; D050596:Oncogene Fusion / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D018203:Sarcoma, Endometrial Stromal / Q000235:genetics / Q000473:pathology*
chemical_list: C411984:BCOR protein, human; D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D016601:RNA-Binding Proteins; D012097:Repressor Proteins; C484647:ZC3H7B protein, human