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Genomic characteristics
Source: Childhood Soft Tissue Sarcoma Treatment (PDQ®)–Health Professional Version, National Cancer Institute.
Source updated: April 21, 2025 · Captured 2026-09-09.
Selected source text with whitespace normalised. This Triangle page is not an NCI PDQ summary.
Context: Treatment of Fibroblastic and Myofibroblastic Tumors / Sclerosing Epithelioid Fibrosarcoma
Sclerosing epithelioid fibrosarcoma most commonly has the EWSR1::CREB3L1 gene fusion. However, EWSR1 may have other partners, including CREB3L2 and CREB3L3.[115,116] Gene fusions involving FUS (including the FUS::CREB3L2 fusion associated with low-grade fibromyxoid sarcoma) and PAX5 (e.g., PAX5::CREB3L1) are uncommon but can occur.[116,117] For cases of sclerosing epithelioid fibrosarcoma that lack MUC4 expression, EWSR1 gene fusions are generally absent, while a gene fusion involving YAP1 and KMT2A is commonly observed.[113,115,118,119] Sclerosing epithelioid fibrosarcoma has more structural and chromosomal segmental alterations than low-grade fibromyxoid fibrosarcoma.[115]
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