Derivative (22)t(3;22)(q12;p11.1) in desmoplastic medulloblastoma.
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.
Manor
Esther
E
Genetics Institute, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, P.O. Box 151, Be'er Sheva, 84501 Israel. manore@bgu.ac.il
Bodner
Lipa
L
Kachko
Palina
P
Kapelushnik
Josef
J
D000293:Adolescent; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D006801:Humans; D008297:Male; D008527:Medulloblastoma / Q000235:genetics*; D032681:Spectral Karyotyping; D014178:Translocation, Genetic