title: Deceptively benign low-grade fibromyxoid sarcoma: array-comparative genomic hybridization decodes the diagnosis.
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.
authors.affiliation: Department of Pathology, University of Missouri, Columbia, MO 65212, USA. odemj@missouri.edu
authors.forename: Jamie L
authors.initials: JL
authors.lastname: Odem
authors.forename: Gabor
authors.initials: G
authors.lastname: Oroszi
authors.forename: Kristen
authors.initials: K
authors.lastname: Bernreuter
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Grammatopoulou
authors.forename: Scott R
authors.initials: SR
authors.lastname: Lauer
authors.forename: David D
authors.initials: DD
authors.lastname: Greenberg
authors.forename: Carole A
authors.initials: CA
authors.lastname: Vogler
authors.forename: Jacqueline R
authors.initials: JR
authors.lastname: Batanian
mesh_terms: D000293:Adolescent; D055028:Comparative Genomic Hybridization / Q000379:methods; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D005354:Fibrosarcoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
chemical_list: C485618:CREB3L1 protein, human; D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D017346:Protein Serine-Threonine Kinases; C496588:STK36 protein, human