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

Rosty, Christophe, Peter, Martine, Zucman, Jessica, Validire, Pierre, Delattre, Olivier and Aurias, Alain (1998) Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22. Genes Chromosomes and Cancer, 21 2: 82-89. doi:10.1002/(SICI)1098-2264(199802)21:2<82::AID-GCC2>3.0.CO;2-3


Author Rosty, Christophe
Peter, Martine
Zucman, Jessica
Validire, Pierre
Delattre, Olivier
Aurias, Alain
Title Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22
Journal name Genes Chromosomes and Cancer   Check publisher's open access policy
ISSN 1045-2257
1098-2264
Publication date 1998-02-01
Sub-type Article (original research)
DOI 10.1002/(SICI)1098-2264(199802)21:2<82::AID-GCC2>3.0.CO;2-3
Volume 21
Issue 2
Start page 82
End page 89
Total pages 8
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
Malignant rhabdoid tumors are rare and aggressive neoplasms of childhood, occurring in the kidney or in various extrarenal locations. Most cytogenetic studies of these tumors have shown the frequent involvement of chromosome 22, including translocations and/or deletions, with a critical region for a rhabdoid tumor gene mapping to chromosome segment 22q11, close to BCR. We report a case of an extrarenal rhabdoid tumor with a t(1;22)(p36;q11.2) that was associated with deletions of chromosomes 1 and 22. We have performed fluorescence in situ hybridization to bracket the translocation breakpoints on both chromosomes and microsatellite analysis to establish the deletion of chromosome 22 more precisely. The chromosome 22 translocation breakpoint is localized close to BCR, in the region covered by the overlapping YACs 446B5 and 361D9, and it is associated with a proximal hemizygous deletion of approximatively 2 Mb. On chromosome 1, the translocation breakpoint maps to a 25 cM region, proximal to D1Z2 and distal to PND, and is also associated with an estimated deletion of 8 Mb. Moreover, microsatellite analysis has demonstrated a homozygous deletion of chromosome 22 for three contiguous loci, immediately distal to BCR. This result suggests that a tumor suppressor gene involved in rhabdoid tumor ontogenesis could be localized in this region of chromosome 22.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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