PMID- 18564355 OWN - NLM STAT- MEDLINE DCOM- 20081204 LR - 20211203 IS - 1365-2141 (Electronic) IS - 0007-1048 (Linking) VI - 142 IP - 5 DP - 2008 Sep TI - Multiplex ligation-dependent probe amplification for detection of genomic alterations in chronic lymphocytic leukaemia. PG - 793-801 LID - 10.1111/j.1365-2141.2008.07268.x [doi] AB - Chronic lymphocytic leukaemia (CLL) is the commonest form of leukaemia in adults in Western countries. We performed multiplex ligation-dependent probe amplification (MLPA) analysis in 50 CLL patients to identify multiple genomic CLL-specific targets, including genes located at 13q14, 17p13 (TP53), 11q23 (ATM) and chromosome 12, and compared the results with those obtained with fluorescence in situ hybridization (FISH). There was a good correlation between MLPA and FISH results, as most alterations (89%) were detected by both techniques. Only three cases with a low percentage (<25%) of cells carrying the alterations were not detected by MLPA. On the other hand, as MLPA uses multiple probes it identified intragenic or small alterations undetected by FISH in three cases. MLPA also detected alterations in 8q24 (MYC) and 6q25-26. In summary, unlike interphase FISH, MLPA enabled the simultaneous analysis of many samples with automated data processing at a low cost. Therefore, the combination of robust multiplexing and high throughput makes MLPA a useful technique for the analysis of genomic alterations in CLL. FAU - Coll-Mulet, Llorenc AU - Coll-Mulet L AD - Departament de Ciencies Fisiologiques II, IDIBELL-Universitat de Barcelona, L'Hospitalet de Llobregat, Barcelona, Spain. FAU - Santidrian, Antonio F AU - Santidrian AF FAU - Cosialls, Ana M AU - Cosialls AM FAU - Iglesias-Serret, Daniel AU - Iglesias-Serret D FAU - de Frias, Merce AU - de Frias M FAU - Grau, Javier AU - Grau J FAU - Menoyo, Anna AU - Menoyo A FAU - Gonzalez-Barca, Eva AU - Gonzalez-Barca E FAU - Pons, Gabriel AU - Pons G FAU - Domingo, Alicia AU - Domingo A FAU - Gil, Joan AU - Gil J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20080617 PL - England TA - Br J Haematol JT - British journal of haematology JID - 0372544 RN - 0 (Cell Cycle Proteins) RN - 0 (DNA-Binding Proteins) 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 MH - Chromosome Aberrations MH - Chromosome Deletion MH - Chromosomes, Human, Pair 12 MH - DNA-Binding Proteins MH - Gene Amplification MH - Gene Dosage MH - Genes, p53 MH - Genomics/methods MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics MH - Nucleic Acid Amplification Techniques/*methods MH - Protein Serine-Threonine Kinases MH - Spain MH - Tumor Suppressor Proteins EDAT- 2008/06/20 09:00 MHDA- 2008/12/17 09:00 CRDT- 2008/06/20 09:00 PHST- 2008/06/20 09:00 [pubmed] PHST- 2008/12/17 09:00 [medline] PHST- 2008/06/20 09:00 [entrez] AID - BJH7268 [pii] AID - 10.1111/j.1365-2141.2008.07268.x [doi] PST - ppublish SO - Br J Haematol. 2008 Sep;142(5):793-801. doi: 10.1111/j.1365-2141.2008.07268.x. Epub 2008 Jun 17.