Abstract
Low-grade fibromyxoid sarcoma (previously known as Evans tumor) is a rare soft tissue neoplasm characterized by a deceptively bland appearance despite the potential for late metastasis or recurrence. We describe a 13-year-old patient with a popliteal fossa mass initially thought to be benign that, because of array-comparative genomic hybridization findings and subsequent immunohistochemistry, was diagnosed as low-grade fibromyxoid sarcoma. The array-comparative genomic hybridization demonstrated a loss of 11p11.2p15.5 and a gain of 16p11.2p13.3 with breakpoints involving the CREB3L1 (cAMP responsive element-binding protein 3-like 1) and FUS (fused in sarcoma) genes, respectively. Subsequent fluorescence in situ hybridization analysis of a dual-labeled break-apart FUS probe on interphase cells was positive. Our case highlights the importance of using genetic information obtained via array-comparative genomic hybridization to classify accurately pediatric soft tissue tumors.
Original language | English (US) |
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Pages (from-to) | 145-150 |
Number of pages | 6 |
Journal | Human Pathology |
Volume | 44 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2013 |
Externally published | Yes |
Keywords
- Array-comparative genomic hybridization
- CREB3L1 gene
- Fused in sarcoma (FUS) gene
- Low-grade fibromyxoid sarcoma
ASJC Scopus subject areas
- Pathology and Forensic Medicine