Deceptively benign low-grade fibromyxoid sarcoma: Array-comparative genomic hybridization decodes the diagnosis

Jamie L. Odem, Gabor Oroszi, Kristen Bernreuter, Vasiliki Grammatopoulou, Scott R. Lauer, David D. Greenberg, Carole A. Vogler, Jacqueline R. Batanian

Research output: Contribution to journalArticle

4 Scopus citations

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 languageEnglish (US)
Pages (from-to)145-150
Number of pages6
JournalHuman Pathology
Volume44
Issue number1
DOIs
StatePublished - Jan 2013

Keywords

  • Array-comparative genomic hybridization
  • CREB3L1 gene
  • Fused in sarcoma (FUS) gene
  • Low-grade fibromyxoid sarcoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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  • Cite this

    Odem, J. L., Oroszi, G., Bernreuter, K., Grammatopoulou, V., Lauer, S. R., Greenberg, D. D., Vogler, C. A., & Batanian, J. R. (2013). Deceptively benign low-grade fibromyxoid sarcoma: Array-comparative genomic hybridization decodes the diagnosis. Human Pathology, 44(1), 145-150. https://doi.org/10.1016/j.humpath.2012.07.021