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We present a premature newborn of 32 wk of gestation with a congenital malignant extrarenal rhabdoid tumor (MERT) on the right shoulder with generalized metastases. Standard histologic, immunohistochemical, molecular and cytogenetic methods were used in the evaluation of diagnostic material. Biopsy of a skin lesion showed the histologic features of a malignant rhabdoid tumor. Cytogenetic analysis of the tumor cells revealed an inv(11)(p13p15) and additionally, an increased expression of myf-3 (myogenic determination factor, MyoD1) and PAX3 was detected. These results suggest an origin of the neoplasm derived from a pluripotent cell with the potential of myogenic differentiation. Tumor suppressor genes located on chromosome 11p13 and 11p15 may play an important role for malignant rhabdoid tumor development and progression.

Inv(11)(p13p15) and Myf-3(MyoD1) in a Malignant Extrarenal Rhabdoid Tumor of a Premature Newborn