A case of angiomatoid fibrous histiocytoma diagnosed with the aid of the analysis of the fusion gene

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  • 融合遺伝子の解析を診断の一助とした類血管腫性線維性組織球腫（AFH）例

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Angiomatoid fibrous histiocytoma (AFH) is a very rare soft tissue neoplasm originally described by Enzinger in 1979, and was considered a variant of malignant fibrous histiocytoma. However, it has subsequently been shown to have a relatively low recurrence rate and a very low metastatic rate. Therefore AFH has been reclassified by the World Health Organization as a neoplasm of uncertain differentiation and low malignant potential since 2002. AFH typically occurs in the soft tissues of the extremities and characteristically affects children and young adults. Recent findings have shown that the majority of cases of AFH have translocation involving either the EWSR1 or FUS gene. We present a case of an 8-year-old girl with AFH on the right shoulder. The diagnosis was made by identifying areas with the typical AFH histology, but ultimately corroborated the fluorescence in situ hybridization (FISH) analysis to identify an EWSR1 rearrangement. The tumor was successfully resected and there has been no sign of recurrence after 5 years.[Skin Cancer (Japan) 2014 ; 29 : 63-67]

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  • Skin Cancer

    Skin Cancer 29 (1), 63-67, 2014

    The Japanese Skin Cancer Society

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