EWSR1-CREB3L1 Gene Fusion

• DOI: 10.1097/pas.0b013e31827560f8
• Publication Date: 2013-04-13T15:35:37Z
• Authors: Patrick P.L. Lau; Philip C.W. Lui; Gene T.C. Lau; Derek T.W. Yau; Elaine T.Y. Cheung; John K.C. Chan
• Keywords: FLI1; Hyaline; Immunostaining

Low-grade fibromyxoid sarcoma (LGFMS) is an uncommon with a deceptively bland-looking morphology that disguises its malignant clinical behavior. It shows distinctive chromosomal translocations resulting in fusion of FUS the CREB3L2 gene most cases and CREB3L1 rare cases. Thus molecular studies are particularly helpful diagnosis this sarcoma. We report 2 LGFMS serendipitously found to harbor novel alternative EWSR1-CREB3L1 fusion, as confirmed by DNA sequencing reverse transcriptase-polymerase chain reaction products fluorescence situ hybridization. One patient was child who presented subcutaneous nodule on lower leg, other middle-aged woman had mass lesion over proximal thigh. Morphologically, one case showed spindle cell tumor hyalinization giant rosettes, whereas classical histology focal metaplastic bone formation. Immunostaining for MUC4 extensive positive staining. Our findings therefore expand spectrum fusions characterize suggest EWSR1 may substitute function