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YAP1::KMT2A-rearranged sarcomas harbor a unique methylation profile and are distinct from sclerosing epithelioid fibrosarcoma and low-grade fibromyxoid sarcoma.
Virchows Arch
December 2024
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 W. 11thStreet, Room 4086, Indianapolis, IN, 46202, USA.
Sclerosing epithelioid fibrosarcoma (SEF) was originally described as a peculiar variant of fibrosarcoma in 1995. Subsequent studies showed that conventional SEF was associated with both immunohistochemical expression of MUC4 and EWSR1/FUS gene rearrangements with CREB3L1 as the predominant fusion partner. Since then, a distinct group of fibrous tumors characterized by YAP1::KMT2A and KMT2A::YAP1 gene rearrangements and SEF-like morphology has been described.
View Article and Find Full Text PDFInternational Multicenter Retrospective Study From the Ultra-rare Sarcoma Working Group on Low-grade Fibromyxoid Sarcoma, Sclerosing Epithelioid Fibrosarcoma, and Hybrid Forms: Outcome of Primary Localized Disease.
Am J Surg Pathol
January 2025
Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
The aim of the study was to report the outcome of primary localized low-grade fibromyxoid sarcoma (LGFMS), sclerosing epithelioid fibrosarcoma (SEF), and hybrid LGFMS/SEF (H-LGFMS/SEF). Patients with primary localized LGFMS, SEF, or H-LGFMS/SEF, surgically treated with curative intent from January 2000 to September 2022, were enrolled from 14 countries and 27 institutions. Pathologic inclusion criteria were predefined by expert pathologists.
View Article and Find Full Text PDFHigh-Throughput Hybridization Assay as First-Line Diagnostic Test for Sarcomas: Clinical Assessment in a Tertiary Referral Center.
Arch Pathol Lab Med
October 2024
From the Department of Pathology, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, CSIC-Universidad de Sevilla, Seville, Spain (Salguero-Aranda, Perez, Vargas-Padilla, Beltrán-Povea, Delgado-Bellido, Marcilla, Civantos, de Álava, Díaz-Martín).
Article Synopsis
- Sarcomas are rare tumors that are hard to diagnose due to their varied appearances; traditional diagnostic methods have limitations in accurately identifying them.
- The study aimed to enhance the diagnostic capabilities of the NanoString nCounter technology by incorporating 188 probes to detect specific gene fusions associated with various types of sarcomas, which were validated through retrospective and prospective sample testing.
- The results showed that this optimized NanoString approach achieved over 88% sensitivity and 100% specificity, proving to be more effective than standard methods, especially for identifying crucial gene fusions in solitary fibrous tumors and low-grade fibromyxoid sarcomas.
A Case Report on the Short-Term Recurrence of Low-Grade Fibromyxoid Sarcoma in the Maxillary Sinus.
Ear Nose Throat J
October 2024
Department of Otorhinolaryngology-Head and Neck Surgery, The Lu An Hospital of Anhui Medical University, Lu An, Anhui, China.
Low-grade fibromyxoid sarcoma (LGFMS) represents an exceptionally rare soft-tissue tumor, challenging to diagnose, and notorious for relentless recurrence and proliferation postsurgical resection. Primary symptoms of LGFMS include nasal congestion and rhinorrhea, accompanied by cheek numbness and distension. In this article, we report the diagnosis and treatment of a case of low-grade LGFMS originating in the maxillary sinus (MS).
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