Spindle cell rhabdomyosarcoma of bone with FUS – TFCP 2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype

作者：Nooshi K Dashti, Rebecca N. Wehrs, Brittany C. Thomas, Asha Nair, Jaime Davila, Jan C. Buckner, Anthony P Martinez, William R. Sukov, Kevin C. Halling, Benjamin M. Howe, Andrew L. Folpe · 发表于：Histopathology · 年份：2018 · DOI：10.1111/his.13649 · 被引用次数：96 · 研究领域：Sarcoma Diagnosis and Treatment、Medical Imaging and Pathology Studies、Metastasis and carcinoma case studies

AIMS: Rhabdomyosarcomas of bone are extremely rare, with fewer than 10 reported cases. A very rare subtype of spindle cell/sclerosing rhabdomyosarcoma harbouring a FUS-TFCP2 fusion and involving both soft tissue and bone locations has been reported very recently. We report only the fourth case of this unusual, clinically aggressive rhabdomyosarcoma. MATERIAL AND RESULTS: A previously well 72-year-old male presented with a destructive lesion of the mandible. Morphological and immunohistochemical study of a needle biopsy and the subsequent resection showed a spindle cell rhabdomyosarcoma. RNA-seq, RT-PCR and FISH confirmed the presence of the FUS-TFCP2 fusion. CONCLUSIONS: Spindle cell rhabdomyosarcomas carrying the FUS-TFCP2 fusion are very rare rhabdomyosarcoma variants with osseous predilection. The classification and differential diagnosis of this unusual molecular variant of spindle cell/sclerosing rhabdomyosarcoma are discussed.