1. Ewing Sarcoma of the Female Genital Tract: Clinicopathologic Analysis of 21 Cases With an Emphasis on the Differential Diagnosis of Gynecologic Round Cell, Spindle, and Epithelioid Neoplasms.
- Author
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Sharma AE, Wepy CB, Chapel DB, Maccio L, Irshaid L, Al-Ibraheemi A, Dickson BC, Nucci MR, Crum CP, Fletcher CDM, and Kolin DL
- Subjects
- Humans, Female, Adult, Diagnosis, Differential, Adolescent, Young Adult, Middle Aged, Child, Retrospective Studies, Immunohistochemistry, In Situ Hybridization, Fluorescence, Homeobox Protein Nkx-2.2, Transcription Factors genetics, Homeodomain Proteins genetics, Predictive Value of Tests, Gene Rearrangement, 12E7 Antigen metabolism, Epithelioid Cells pathology, Epithelioid Cells chemistry, Nuclear Proteins, Sarcoma, Ewing genetics, Sarcoma, Ewing pathology, Sarcoma, Ewing diagnosis, Sarcoma, Ewing chemistry, Genital Neoplasms, Female pathology, Genital Neoplasms, Female genetics, Genital Neoplasms, Female diagnosis, Biomarkers, Tumor genetics, Biomarkers, Tumor analysis, RNA-Binding Protein EWS genetics
- Abstract
Ewing sarcoma is an uncommon neoplasm considered in the differential diagnosis of tumors with "small round cell" morphology, but its occurrence in the gynecologic tract has only been sporadically documented. Herein, we describe the largest cohort of Ewing sarcoma localized to the female genital tract to date, and emphasize their clinicopathologic resemblance to more common gynecologic neoplasms. Ewing sarcoma (n=21) was retrospectively identified from 5 institutions. The average patient age was 35 (range 6-61) years. Tumor sites included uterus (n=8), cervix (n=4), vulva (n=5), vagina (n=1), broad ligament (n=1), inguinal area (n=1), and pelvis (n=1). Nine of 18 cases in which slides were available for review demonstrated only classic round cell morphology, with the remainder showing a variable combination and prominence of variant ovoid/spindle or epithelioid appearance. Tumors showed diffuse membranous reactivity for CD99 (20/20) and were positive for NKX2.2 (8/8, diffuse) and cyclin D1 (7/7, of which 3/7 were patchy/multifocal and 4/7 were diffuse). They were negative for ER (0/6) and CD10 (0/6). Three cases were initially diagnosed as endometrial stromal sarcomas. EWSR1 rearrangement was confirmed in 20/21 by fluorescence in situ hybridization (n=15) and/or sequencing (n=8). Of the eight tumors that underwent sequencing, 6 harbored FLI1 , 1 ERG, and 1 FEV as the fusion partner. Of 11 patients with available follow-up, 5 died of disease, 1 developed lung metastases and 5 are alive with no evidence of disease. Ewing sarcoma of the gynecologic tract is a rare, aggressive entity that shares some morphologic and immunohistochemical features with other more common gynecologic neoplasms. In addition to the typical round cell appearance, variant spindled/ovoid to epithelioid morphology may also be observed and should prompt consideration of this entity with appropriate immunohistochemical and/or molecular studies., Competing Interests: Conflicts of Interest and Source of Funding: The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2024
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