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SMARCA4-Deficient Undifferentiated Uterine Sarcoma: A Case Report.

Murakami I, Tanaka K, Shiraishi J and Yamashita H

A rare subset of aggressive SMARCA4-deficient uterine sarcomas has been
recently proposed, with only a few cases having previously been described.
We describe a case of SMARCA4-deficient uterine sarcoma with aggressive
behavior in a patient who underwent surgery. A 57 year-old women presented
with abnormal vaginal bleeding and a large mass protruding though the cervix.
On histopathological examination, the tumor was composed of epithelioid cells
displaying prominent rhabdoid morphology reminiscent of epithelioid sarcoma
that infiltrated around normal glands in a vague leaf-like architecture. The tumor
cells were large and epithelioid with prominent nucleoli and abundant mitotic
activity. Immunohistochemical staining revealed loss of SMARCA4, CD34, WT-1,
and claudin-4 with retained SMARCB1 and cyclin D1. The tumor was diagnosed
as SMARCA4-deficient uterine sarcoma. The patient died of the disease 7 months
after surgery. We herein present this case with a literature review.