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

Summary 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...

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Bibliographic Details
Published in:Human pathology 2013, Vol.44 (1), p.145-150
Main Authors: Odem, Jamie L., MD, Oroszi, Gabor, MD, Bernreuter, Kristen, BS, Grammatopoulou, Vasiliki, MS, Lauer, Scott R., MD, Greenberg, David D., MD, Vogler, Carole A., MD, Batanian, Jacqueline R., PhD
Format: Article
Language:English
Subjects:
Adolescent
Array-comparative genomic hybridization
Cell culture
Comparative Genomic Hybridization - methods
CREB3L1 gene
Cyclic AMP Response Element-Binding Protein - genetics
Deoxyribonucleic acid
DNA
Fibrosarcoma - diagnosis
Fibrosarcoma - genetics
Fibrosarcoma - pathology
Fused in sarcoma (FUS) gene
Genomes
Humans
Hybridization
Low-grade fibromyxoid sarcoma
Male
Medical imaging
Nerve Tissue Proteins - genetics
Oligonucleotide Array Sequence Analysis - methods
Pathology
Pediatrics
Polymerase chain reaction
Protein-Serine-Threonine Kinases - genetics
Proteins
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Summary:Summary 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.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2012.07.021