PMID- 18350294 OWN - NLM STAT- MEDLINE DCOM- 20080918 LR - 20080523 IS - 1432-0584 (Electronic) IS - 0939-5555 (Linking) VI - 87 IP - 7 DP - 2008 Jul TI - Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions. PG - 537-44 LID - 10.1007/s00277-008-0462-3 [doi] AB - Deletion of the long arm of chromosome 20 is a recurrent abnormality observed in myelodysplastic syndromes (MDS) and in Philadelphia-chromosome-negative myeloproliferative disorders (MPD). Our objective was to characterize the deletion size among 38 MDS and MPD patients using fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) probes and to define commonly deleted and retained regions on chromosome 20. Patients were distributed in three groups according to the World Health Organization classification: MDS (22 patients), MPD (12 patients) and myelodysplastic/myeloproliferative diseases (four patients). FISH with centromeric, subtelomeric, and unique sequence probes was performed to characterize the deletion whereas its size was delineated using BAC clones. All 38 deletions were found to be interstitial. A commonly deleted region was identified for each of the three groups; it varied from 6.62 to 10.4 Mb and showed considerable overlapping. Two commonly retained regions (CRR), also showing overlapping, were identified in all three groups, one in the centromeric region, the other in the telomeric region. The deletion size is highly variable, with no apparent recurrent breakpoint. The deletion may result in the loss of one or several tumor suppressor genes but the target genes remain unknown. Loss of genes plays an important part in the myeloid leukemic process associated with del(20q). However, genes located in the retained chromosomal regions may also play a role in the oncogenetic mechanisms. FAU - Douet-Guilbert, Nathalie AU - Douet-Guilbert N AD - Laboratoire d'Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France. FAU - Basinko, Audrey AU - Basinko A FAU - Morel, Frederic AU - Morel F FAU - Le Bris, Marie-Josee AU - Le Bris MJ FAU - Ugo, Valerie AU - Ugo V FAU - Morice, Patrick AU - Morice P FAU - Berthou, Christian AU - Berthou C FAU - De Braekeleer, Marc AU - De Braekeleer M LA - eng PT - Journal Article DEP - 20080319 PL - Germany TA - Ann Hematol JT - Annals of hematology JID - 9107334 SB - IM MH - Aged MH - Aged, 80 and over MH - Chromosome Banding MH - *Chromosome Deletion MH - Chromosomes, Artificial, Bacterial MH - Chromosomes, Human, Pair 20/genetics/*ultrastructure MH - Cohort Studies MH - Female MH - Gene Deletion MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/genetics MH - Male MH - Middle Aged MH - Myelodysplastic Syndromes/*genetics MH - Myeloproliferative Disorders/*genetics MH - Philadelphia Chromosome EDAT- 2008/03/20 09:00 MHDA- 2008/09/19 09:00 CRDT- 2008/03/20 09:00 PHST- 2007/10/24 00:00 [received] PHST- 2008/02/04 00:00 [accepted] PHST- 2008/03/20 09:00 [pubmed] PHST- 2008/09/19 09:00 [medline] PHST- 2008/03/20 09:00 [entrez] AID - 10.1007/s00277-008-0462-3 [doi] PST - ppublish SO - Ann Hematol. 2008 Jul;87(7):537-44. doi: 10.1007/s00277-008-0462-3. Epub 2008 Mar 19.