Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22

摘要: Malignant rhabdoid tumors are rare and aggressive neoplasms of childhood, occurring in the kidney or various extrarenal locations. Most cytogenetic studies these have shown frequent involvement chromosome 22, including translocations and/or deletions, with a critical region for tumor gene mapping to segment 22q11, close BCR. We report case an t(1;22)(p36;q11.2) that was associated deletions chromosomes 1 22. performed fluorescence situ hybridization bracket translocation breakpoints on both microsatellite analysis establish deletion 22 more precisely. The breakpoint is localized BCR, covered by overlapping YACs 446B5 361D9, it proximal hemizygous approximatively 2 Mb. On 1, maps 25 cM region, D1Z2 distal PND, also estimated 8 Moreover, has demonstrated homozygous three contiguous loci, immediately This result suggests suppressor involved oncogenesis could be this