دورية أكاديمية
EWSR1::WT1 Fusions in Neoplasms Other Than Conventional Desmoplastic Small Round Cell Tumor: Three Tumors Occurring Outside the Female Genital Tract.
| العنوان: | EWSR1::WT1 Fusions in Neoplasms Other Than Conventional Desmoplastic Small Round Cell Tumor: Three Tumors Occurring Outside the Female Genital Tract. |
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| المؤلفون: | Warmke LM; Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana. Electronic address: lwarmke@iu.edu., Perret R; Department of Biopathology, Institut Bergonié, Comprehensive Cancer Center, Bordeaux, France; Bordeaux Institute of Oncology, BRIC, INSERM, Bordeaux University, Bergonié Institute, Bordeaux, France., Ledoux P; Department of Diagnostic and Interventional Oncological Imaging, Institut Bergonié, Regional Comprehensive Cancer of Nouvelle-Aquitaine, Bordeaux, France., Michot A; Plastic and Reconstructive Surgery Department, Bergonié Institute, Bordeaux, France., Italiano A; Sarcoma Unit, Institut Bergonié, Bordeaux, Gironde, France; Faculty of Medicine, University of Bordeaux, Bordeaux, Gironde, France., Zou YS; Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland., Matoso A; Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland., Argani P; Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland., Ulbright TM; Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana., Baumhoer D; Bone Tumor Reference Center at the Institute of Pathology, University Hospital Basel and University of Basel, Basel, Switzerland., Ameline B; Bone Tumor Reference Center at the Institute of Pathology, University Hospital Basel and University of Basel, Basel, Switzerland., Gross JM; Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland. |
| المصدر: | Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2024 Mar; Vol. 37 (3), pp. 100418. Date of Electronic Publication: 2023 Dec 27. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 8806605 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0285 (Electronic) Linking ISSN: 08933952 NLM ISO Abbreviation: Mod Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : [New York] : Elsevier Inc. Original Publication: Baltimore, MD : Williams & Wilkins, c1988- |
| مواضيع طبية MeSH: | Desmoplastic Small Round Cell Tumor*/genetics , Desmoplastic Small Round Cell Tumor*/pathology , Soft Tissue Neoplasms*, Male ; Humans ; Female ; Child ; Aged, 80 and over ; Adult ; DNA Copy Number Variations ; Desmin ; Genitalia, Female/chemistry ; Genitalia, Female/metabolism ; Genitalia, Female/pathology ; Oncogene Proteins, Fusion/analysis ; RNA-Binding Protein EWS/genetics ; RNA-Binding Protein EWS/metabolism ; WT1 Proteins/genetics |
| مستخلص: | Desmoplastic small round cell tumor (DSRCT) is a high-grade, primitive round cell sarcoma classically associated with prominent desmoplastic stroma, coexpression of keratin and desmin, and a characteristic EWSR1::WT1 gene fusion. DSRCT typically arises in the abdominopelvic cavity of young males with diffuse peritoneal spread and poor overall survival. Although originally considered to be pathognomonic for DSRCT, EWSR1::WT1 gene fusions have recently been detected in rare tumors lacking the characteristic morphologic and immunohistochemical features of DSRCT. Here, we report 3 additional cases of neoplasms other than conventional DSCRCT with EWSR1::WT1 gene fusions that occurred outside the female genital tract. Two occurred in the abdominopelvic cavities of a 27-year-old man and a 12-year-old girl, whereas the third arose in the axillary soft tissue of an 85-year-old man. All cases lacked prominent desmoplastic stroma and were instead solid and cystic with peripheral fibrous pseudocapsules and occasional intervening fibrous septa. Necrosis was either absent (1/3) or rare (2/3), and mitotic activity was low (<1 to 3 per 10 hpf). In immunohistochemical studies, there was expression of smooth muscle actin (3/3) and desmin (3/3), rare to focal reactivity for EMA (2/3), and variable expression of CK AE1/AE3 (1/3). Myogenin and MyoD1 were negative, and C-terminus-specific WT1 was positive in both cases tested (2/2). All 3 tumors followed a more indolent clinical course with 2 cases demonstrating no evidence of disease at 20 and 44 months after resection. The patient from case 3 died of other causes at 14 months with no evidence of recurrence. DNA methylation profiling showed that the 3 cases clustered with DSRCT; however, they demonstrated fewer copy number variations with 2 cases having a flat profile (0% copy number variation). Differential methylation analysis with hierarchical clustering further showed variation between the 3 cases and conventional DSRCT. Although further study is needed, our results, in addition to previous reports, suggest that EWSR1::WT1 gene fusions occur in rare and seemingly distinctive tumors other than conventional DSRCT with indolent behavior. Proper classification of these unusual soft tissue tumors with EWSR1::WT1 gene fusions requires direct correlation with tumor morphology and clinical behavior, which is essential to avoid overtreatment with aggressive chemotherapy. (Copyright © 2023 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: DSRCT; EWSR1::WT1; desmoplastic small round cell tumor; sarcoma |
| المشرفين على المادة: | 0 (Desmin) 0 (Oncogene Proteins, Fusion) 0 (EWSR1 protein, human) 0 (RNA-Binding Protein EWS) 0 (WT1 protein, human) 0 (WT1 Proteins) |
| تواريخ الأحداث: | Date Created: 20231229 Date Completed: 20240325 Latest Revision: 20240325 |
| رمز التحديث: | 20240325 |
| DOI: | 10.1016/j.modpat.2023.100418 |
| PMID: | 38158126 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0285 |
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| DOI: | 10.1016/j.modpat.2023.100418 |