Epithelioid and spindle cell rhabdomyosarcoma with FUS-TFCP2 or EWSR1-TFCP2 fusion: report of two cases
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ORIGINAL ARTICLE
Epithelioid and spindle cell rhabdomyosarcoma with FUS-TFCP2 or EWSR1-TFCP2 fusion: report of two cases John S.A. Chrisinger 1 & Bret Wehrli 2 & Brendan C. Dickson 3 & Samir Fasih 4 & Angela C. Hirbe 5 & David B. Shultz 6 & Gelareh Zadeh 7,8 & Abha A. Gupta 4,9 & Elizabeth G. Demicco 3 Received: 24 April 2020 / Revised: 27 May 2020 / Accepted: 10 June 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract The WHO Classification of Tumors of Soft Tissue and Bone divides rhabdomyosarcoma (RMS) into alveolar, embryonal, pleomorphic, and spindle cell/sclerosing types. Advances in molecular diagnostics have allowed for further refinement of RMS classification including the identification of new subtypes. Very rare RMS with epithelioid and spindle cell morphology, female predominance, marked osseous predilection, ALK expression, EWSR1/FUS-TFCP2 gene fusions, and highly aggressive clinical behavior have recently been recognized with only 23 cases reported in the English language literature. Herein, we report two additional cases with detailed clinicopathologic description and molecular confirmation. In brief, two young women presented each with a primary bone tumor—one with a frontal bone tumor and another with an osseous pelvic tumor. Both tumors showed epithelioid to spindle cell morphology, ALK expression, and EWSR1/FUS-TFCP2 gene fusions. Both patients died of disease less than 17 months from diagnosis despite administration of multiple lines of aggressive treatment. In addition, we review the literature and discuss differential diagnostic and potential treatment considerations. Keywords Rhabdomyosarcoma . Epithelioid and spindle cell rhabdomyosarcoma . TFCP2 . EWSR1-TFCP2 . FUS-TFCP2 . Bone
Introduction Rhabdomyosarcomas (RMS) are malignant mesenchymal tumors with skeletal muscle differentiation. The WHO currently classifies RMS into embryonal, alveolar, pleomorphic, and spindle cell/sclerosing types [1]. However, recent advances in molecular diagnostics have refined this understanding, leading to the identification of additional distinct types,
* John S.A. Chrisinger [email protected] 1
Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA
2
Department of Pathology and Laboratory Medicine, London Health Sciences Centre, Western University, London, ON, Canada
3
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
4
Princess Margaret Cancer Centre, Division of Medical Oncology, University of Toronto, Toronto, ON, Canada
including rare RMS with FUS-TFCP2 or EWSR1-TFCP2 fusions. These tumors typically show a monomorphic proliferation of spindle to epithelioid cells, have a marked predilection for bone, and often pursue an extremely aggressive course. We report two cases of epithelioid and spindle cell RMS (ESRMS) with FUS/EWSR1-TFCP2 fusions and discuss implications for classification, differential diagnosis, and treatment.
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