Derivative (22)t(3;22)(q12;p11.1) in desmoplastic medulloblastoma

Abstract Medulloblastoma is a malignant invasive embryonal tumor of the cerebellum, representing 15–30% of pediatric brain tumors. An i(17q) abnormality appears in 40% of medulloblastomas, and usually not as a sole aberration; however, cytogenetic data for medulloblastoma are limited. Cytogenetic work-up of tumors is an important tool for diagnosis and prognosis, and in some cases has led to the development of new therapeutic modalities. In the present case, cytogenetic analysis of a medulloblastoma revealed an unbalanced karyotype in all cells analyzed: 46,XY,der(22)t(3;22)(q12;p11.1). This sole unbalanced translocation led to partial trisomy of 3q. The significance of this finding and its role in the pathogenesis of medulloblastoma need further clarification.