Rapidly fatal SMARCA4-deficient undifferentiated sarcoma originating from hybrid hemosiderotic fibrolipomatous tumor/pleomorphic hyalinizing angiectatic tumor of the foot

Agaimy A, Meidenbauer N, Sukov WR, Stöhr R, Vieth M, Roemer F, Grützmann R, Folpe AL (2021)

Publication Type: Journal article

Publication year: 2021

Journal

Virchows Archiv Springer Verlag (Germany)

DOI: 10.1007/s00428-021-03167-6

Abstract

Pleomorphic hyalinizing angiectatic tumor (PHAT) of soft parts and hemosiderotic fibrolipomatous tumor (HFLT) are two rare low-grade locally recurring neoplasms with predilection for the foot/ankle. Recent studies support a close link between the two entities, and origin of PHAT from HFLT and occurrence of hybrid HFLT/PHAT have been documented. Both lesions often harbor TGFBR3 or MGEA5 rearrangements. Rare sarcomas originating from HFLT/PHAT have been reported, typically resembling myxofibrosarcoma or myxoinflammatory fibroblastic sarcoma. We describe a novel SMARCA4-deficient undifferentiated sarcoma with rhabdoid features originating from hybrid HFLT/PHAT in the foot of a 54-year-old male. The tumor pursued a highly aggressive course with rapid regrowth after resection and multiple metastases resulting in patient's death within 5 months, despite systemic chemotherapy. Immunohistochemistry revealed SMARCA4 loss in the undifferentiated sarcoma, but not in the HFLT/PHAT. Molecular testing confirmed TGFBR3/MGEA5 rearrangements. This report expands the phenotypes of sarcomas developing from pre-existing PHAT/HFLT.

Authors with CRIS profile

Abbas Agaimy Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie Norbert Meidenbauer Department of Medicine 5 – Haematology and Oncology Michael Vieth Medizinische Fakultät Frank Roemer Institute of Radiology Robert Grützmann Department of Surgery

Involved external institutions

Mayo Clinic US United States (USA) (US)

How to cite

APA:

Agaimy, A., Meidenbauer, N., Sukov, W.R., Stöhr, R., Vieth, M., Roemer, F.,... Folpe, A.L. (2021). Rapidly fatal SMARCA4-deficient undifferentiated sarcoma originating from hybrid hemosiderotic fibrolipomatous tumor/pleomorphic hyalinizing angiectatic tumor of the foot. Virchows Archiv. https://doi.org/10.1007/s00428-021-03167-6

MLA:

Agaimy, Abbas, et al. "Rapidly fatal SMARCA4-deficient undifferentiated sarcoma originating from hybrid hemosiderotic fibrolipomatous tumor/pleomorphic hyalinizing angiectatic tumor of the foot." Virchows Archiv (2021).

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