PMID- 19963108 OWN - NLM STAT- MEDLINE DCOM- 20091215 LR - 20211203 IS - 1873-4456 (Electronic) IS - 0165-4608 (Linking) VI - 195 IP - 2 DP - 2009 Dec TI - Identification of chromosomal abnormalities relevant to prognosis in chronic lymphocytic leukemia using multiplex ligation-dependent probe amplification. PG - 97-104 LID - 10.1016/j.cancergencyto.2009.06.020 [doi] AB - B-cell chronic lymphocytic leukemia (CLL) is characterized by a highly variable clinical course. Characteristic genomic abnormalities provide clinically important prognostic information. Because karyotyping and fluorescence in situ hybridization (FISH) are laborious techniques, we investigated the diagnostic efficacy of the more recently developed multiplex ligation-dependent probe amplification (MLPA) technique. MLPA and interphase FISH data of 88 CLL patients were compared for loci encompassing the 13q14 region, chromosome 12, and the ATM (11q22) and TP53 (17p13) genes. We found a perfect correlation, provided that the abnormal clone was present in at least 10-20% of the cells. Because multiple loci and multiple probes per locus were included in the MLPA assay, additional abnormalities not covered by the FISH probes were detected. Furthermore, in 13 cases deletions partly covering the 13q14.3 locus were observed, including three deletions that remained undetected by FISH. All the deletions included the noncoding RNA locus DLEU1 (previously BCMS), which is considered to be the most likely CLL-associated candidate tumor suppressor gene within the 13q14 region. We conclude that MLPA serves as a comprehensive and reliable technique for the simultaneous identification of different clinically relevant and region-specific genomic aberrations in CLL. FAU - Stevens-Kroef, Marian AU - Stevens-Kroef M AD - Department of Human Genetics, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands. m.stevens@antrg.umcn.nl FAU - Simons, Annet AU - Simons A FAU - Gorissen, Hanneke AU - Gorissen H FAU - Feuth, Ton AU - Feuth T FAU - Weghuis, Daniel Olde AU - Weghuis DO FAU - Buijs, Arjan AU - Buijs A FAU - Raymakers, Reinier AU - Raymakers R FAU - Geurts van Kessel, Ad AU - Geurts van Kessel A LA - eng PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Cell Cycle Proteins) RN - 0 (DNA-Binding Proteins) RN - 0 (Tumor Suppressor Protein p53) RN - 0 (Tumor Suppressor Proteins) RN - EC 2.7.11.1 (ATM protein, human) RN - EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins) RN - EC 2.7.11.1 (Protein Serine-Threonine Kinases) SB - IM MH - Ataxia Telangiectasia Mutated Proteins MH - Cell Cycle Proteins/genetics MH - *Chromosome Aberrations MH - Chromosomes, Human, Pair 13 MH - DNA-Binding Proteins/genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics MH - Ligase Chain Reaction MH - Prognosis MH - Protein Serine-Threonine Kinases/genetics MH - Reproducibility of Results MH - Tumor Suppressor Protein p53/genetics MH - Tumor Suppressor Proteins/genetics EDAT- 2009/12/08 06:00 MHDA- 2009/12/16 06:00 CRDT- 2009/12/08 06:00 PHST- 2009/05/05 00:00 [received] PHST- 2009/06/17 00:00 [revised] PHST- 2009/06/20 00:00 [accepted] PHST- 2009/12/08 06:00 [entrez] PHST- 2009/12/08 06:00 [pubmed] PHST- 2009/12/16 06:00 [medline] AID - S0165-4608(09)00336-7 [pii] AID - 10.1016/j.cancergencyto.2009.06.020 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2009 Dec;195(2):97-104. doi: 10.1016/j.cancergencyto.2009.06.020.