PMID- 12550752 OWN - NLM STAT- MEDLINE DCOM- 20030303 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 140 IP - 1 DP - 2003 Jan 1 TI - Different mechanisms lead to a karyotypically identical t(20;21) in myelodysplastic syndrome and in acute myelocytic leukemia. PG - 13-7 AB - A new t(20;21)(q11;q11), associated with a deletion on the long arm of chromosome 20, was found in one patient with an acute myelocytic leukemia (AML) and in one with myelodysplastic syndrome (MDS). In both cases deletion was interstitial, extending from band q11 to band q13, as shown by comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH). FISH analysis with whole arm paints, subtelomeric probes, and locus-specific probes for the long arms of chromosomes 20 and 21 revealed in patient 1 a reciprocal translocation between the deleted 20q and the long arm of chromosome 21, that is, del(20)(q11q13)t(20;21)(q11;q11), and in patient 2, material from 21q was inserted into the deleted 20q, that is, del(20)(q11q13)ins(20;21)(q11;q11q22). This is the first identification of a complex 20;21 rearrangement in MDS/AML. Deletion at 20q and juxtaposition between 20q11 and 21q11 appear to be the critical genomic events. FAU - Matteucci, Caterina AU - Matteucci C AD - Ematologia, Universita degli Studi di Perugia, 06123, Perugia, Italy. crimecux@unipg.it FAU - La Starza, Roberta AU - La Starza R FAU - Crescenzi, Barbara AU - Crescenzi B FAU - Romoli, Silvia AU - Romoli S FAU - Santoro, Alessandra AU - Santoro A FAU - Magrin, Silvana AU - Magrin S FAU - Lauria, Francesco AU - Lauria F FAU - Coco, Francesco Lo AU - Coco FL FAU - Martelli, Massimo F AU - Martelli MF FAU - Mecucci, Cristina AU - Mecucci C LA - eng PT - Case Reports PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 SB - IM MH - Aged MH - Anemia, Refractory, with Excess of Blasts/*genetics MH - Chromosome Banding MH - Chromosome Breakage MH - Chromosome Deletion MH - Chromosomes, Human, Pair 20/*genetics MH - Chromosomes, Human, Pair 21/*genetics MH - Fatal Outcome MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myeloid, Acute/*genetics MH - Male MH - Middle Aged MH - Nucleic Acid Hybridization MH - *Translocation, Genetic EDAT- 2003/01/29 04:00 MHDA- 2003/03/04 04:00 CRDT- 2003/01/29 04:00 PHST- 2003/01/29 04:00 [pubmed] PHST- 2003/03/04 04:00 [medline] PHST- 2003/01/29 04:00 [entrez] AID - S0165460802006222 [pii] AID - 10.1016/s0165-4608(02)00622-2 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2003 Jan 1;140(1):13-7. doi: 10.1016/s0165-4608(02)00622-2.