PMID- 12176901 OWN - NLM STAT- MEDLINE DCOM- 20020913 LR - 20210216 IS - 0006-4971 (Print) IS - 0006-4971 (Linking) VI - 100 IP - 5 DP - 2002 Sep 1 TI - A high-resolution allelotype of B-cell chronic lymphocytic leukemia (B-CLL). PG - 1787-94 AB - The most frequent chromosomal aberrations in B-cell chronic lymphocytic leukemia (B-CLL) are deletions on 13q, 11q, and 17p, and trisomy 12, all of which are of prognostic significance. Conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) are used for their detection, but cytogenetic analysis is hampered by the low mitotic index of B-CLL cells, and FISH depends on accurate information about candidate regions. We used a set of 400 highly informative microsatellite markers covering all chromosomal arms (allelotyping) and automated polymerase chain reaction (PCR) protocols to screen 46 patients with typical B-CLL for chromosomal aberrations. For validation, we compared data with our conventional karyotype results and fine mapping with conventional single-site PCR. All clonal cytogenetic abnormalities potentially detectable by our microsatellite PCR (eg, del13q14 and trisomy 12) were picked up. Allelotyping revealed additional complex aberrations in patients with both normal and abnormal B-CLL karyotypes. Aberrations detectable in the samples with our microsatellite panel were found on almost all chromosomal arms. We detected new aberrant loci in typical B-CLL, such as allelic losses on 1q, 9q, and 22q in up to 25% of our patients, and allelic imbalances mirroring chromosomal duplications, amplifications, or aneuploidies on 2q, 10p, and 22q in up to 27% of our patients. We conclude that allelotyping with our battery of informative microsatellites is suitable for molecular screening of B-CLL. The technique is well suited for analyses in clinical trials, it provides a comprehensive view of genetic alterations, and it may identify new loci with candidate genes relevant in the molecular biology of B-CLL. FAU - Novak, Urban AU - Novak U AD - Department of Clinical Research and Medical Oncology/Hematology, Inselspital (University Hospital), Bern, Switzerland. FAU - Oppliger Leibundgut, Elisabeth AU - Oppliger Leibundgut E FAU - Hager, Jorg AU - Hager J FAU - Muhlematter, Dominique AU - Muhlematter D FAU - Jotterand, Martine AU - Jotterand M FAU - Besse, Celine AU - Besse C FAU - Leupin, Nicolas AU - Leupin N FAU - Ratschiller, Daniel AU - Ratschiller D FAU - Papp, Jeanette AU - Papp J FAU - Kearsey, Gina AU - Kearsey G FAU - Aebi, Stefan AU - Aebi S FAU - Graber, Hans AU - Graber H FAU - Jaggi, Rolf AU - Jaggi R FAU - Luthi, Jean-Marc AU - Luthi JM FAU - Meyer-Monard, Sandrine AU - Meyer-Monard S FAU - Lathrop, Mark AU - Lathrop M FAU - Tobler, Andreas AU - Tobler A FAU - Fey, Martin F AU - Fey MF LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Blood JT - Blood JID - 7603509 SB - IM MH - *Alleles MH - *Chromosome Aberrations MH - Cytogenetic Analysis MH - Humans MH - Karyotyping MH - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics MH - Microsatellite Repeats MH - Polymerase Chain Reaction EDAT- 2002/08/15 10:00 MHDA- 2002/09/14 10:01 CRDT- 2002/08/15 10:00 PHST- 2002/08/15 10:00 [pubmed] PHST- 2002/09/14 10:01 [medline] PHST- 2002/08/15 10:00 [entrez] AID - S0006-4971(20)59265-3 [pii] PST - ppublish SO - Blood. 2002 Sep 1;100(5):1787-94.