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Epithelioid sarcoma is a malignant mesenchymal tumor exhibiting epithelioid cytomorphology and epithelial phenotype. Its histogenesis is unknown, but its tumorigenesis may relate to inactivation of tumor suppressor gene. This tumor typically affects young adults and older children, but it is uncommon in infants. We describe a unique neoplasm in a 15-month-old infant presenting with a heel mass. The tumor was remarkable for retention of SMARCB1/INI1 expression. Conventional cytogenetic analysis revealed trisomy 2 and double minutes, and SNP array analysis confirmed the trisomy 2 and identified segmental amplification of chromosome 11 containing and ; FISH testing proved that the double minutes consisted of and , potent oncogenes related to tumorigenesis of several types of tumors but not described in epithelioid sarcoma. Our findings expand the spectrum of cytogenetic alterations in this neoplasm, help in better understanding its tumorigenesis, and suggest potential therapeutic targets.
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http://dx.doi.org/10.1080/15513815.2019.1627629 | DOI Listing |
Ann Surg Oncol
September 2025
Division of Surgical Oncology, Department of Surgery, Winship Cancer Institute, Emory University, Atlanta, GA, USA.
Soft tissue sarcomas (STS) are a heterogeneous group of rare malignant tumors arising from mesenchymal tissues, with extremity and superficial trunk STS (eSTS) comprising the majority of cases. The management of localized eSTS requires a multidisciplinary approach to optimize oncologic and functional outcomes. This review outlines the natural history, diagnostic workup, and treatment principles for localized eSTS, emphasizing the role of histology-specific considerations in guiding management strategies.
View Article and Find Full Text PDFBr J Haematol
September 2025
Platform of Molecular Analysis for Mastocytosis and MCAD (CEREMAST), Department of Biological Hematology, Pitié-Salpêtrière Hospital, AP-HP, Paris Sorbonne University, Paris, France.
Mastocytosis is categorized into cutaneous mastocytosis (CM), mast cell sarcoma and systemic mastocytosis (SM). Within SM, indolent SM (ISM) is the more frequent subtype. Adult patients with CM but without an extracutaneous biopsy are classified as having mastocytosis in the skin (MIS), a provisional diagnosis.
View Article and Find Full Text PDFPathol Res Pract
September 2025
Department of Pathology, Xijing Hospital and School of Basic Medicine, Fourth Military Medical University, Xi'an, China. Electronic address:
Background: Dermal clear cell sarcoma (DCCS) is a rare malignant mesenchymal neoplasm. Owing to the overlaps in its morphological and immunophenotypic profiles with a broad spectrum of tumors exhibiting melanocytic differentiation, it is frequently misdiagnosed as other tumor entities in clinical practice. By systematically analyzing the clinicopathological characteristics, immunophenotypic features, and molecular biological properties of DCCS, this study intends to further enhance pathologists' understanding of this disease and provide a valuable reference for its accurate diagnosis.
View Article and Find Full Text PDFClin Cancer Res
September 2025
University of Michigan-Ann Arbor, Ann Arbor, MI, United States.
Purpose: Liposarcoma (LPS) is the most common soft tissue sarcoma. Well-differentiated LPS (WDLPS) can progress to dedifferentiated LPS (DDLPS), a more aggressive form with higher metastatic potential and poor response to existing therapies. Progress in understanding and treating LPS has been limited.
View Article and Find Full Text PDFJ Pathol
September 2025
The North of England Bone and Soft Tissue Tumour Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Indocyanine green (ICG) is a well-established near-infrared dye which has been used clinically for several decades. Recently, it has been utilised for fluorescence-guided surgery in a range of solid cancer types, including sarcoma, with the aim of reducing the positive margin rate. The increased uptake and retention of ICG within tumours, compared with normal tissue, gives surgeons a visual reference to aid resection when viewed through a near-infrared camera.
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