Atypical ossifying fibromyxoid tumor unusually located in the mediastinum: report of a case showing mosaic loss of INI-1 expression.

Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue tumor. OFMT mostly arises in subcutaneous tissue or skeletal muscle of the extremities and is extremely unusual in the mediastinum. OFMT is classified as typical, atypical, or malignant as tumor aggressiveness increases. Herein, we presented a case of atypical OFMT that developed in the mediastinum of a 43-year-old woman. Because of its predominant hypercellular area and some tumor cells with high nuclear grade, it was not a typical OFMT. However, it did not have a sufficient number of mitotic figures to be classified as malignant. Hence, we classified it as atypical OFMT with some apparent characteristic features of OFMT, such as the presence of spicules of bone at the periphery of the tumor. Upon immunohistochemistry, it was positive for vimentin, S-100 protein, and CD10, which was consistent with a diagnosis of OFMT. Particularly noteworthy was the mosaic loss of INI-1 expression. Some OFMT and other exceptionally rare tumors have been reported to exhibit mosaic INI-1 loss. Inactivation of INI-1 gene and deregulation of PHF1 gene are thought to be involved in tumorigenesis of OFMT. Therefore, we speculated that the mosaic loss of INI-1 observed in the present case might also be related to a kind of abnormality of INI-1 as was reported previously.