PMID- 10451708 OWN - NLM STAT- MEDLINE DCOM- 19990902 LR - 20071115 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 24 IP - 3 DP - 1999 Mar TI - Trisomy 21 is a recurrent secondary aberration in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion. PG - 272-7 AB - TEL/AML1 gene fusion is the most frequent genetic lesion in pediatric acute lymphoblastic leukemia (ALL). It occurs as a consequence of the cryptic chromosomal translocation t(12;21)(p13;q22). In a cohort of 50 RT-PCR-positive TEL/AML1 patients, karyotype examination by GTG banding and fluorescence in situ hybridization (FISH) allowed us to identify chromosome anomalies in addition to the already existing t(12;21). Secondary aberrations were found in 29 out of 41 patients (71%) at initial diagnosis and in all 9 patients with relapse. Structural rearrangements affected chromosome arms 2p, 2q, 5q, 9p, 12p (n = 2), 6q, 11p (n = 3), and 21q (n = 4). An extra chromosome 21 was found to be the most frequent anomaly. It was detected in 6 out of 41 patients at initial diagnosis (15%) and in 7 out of the 9 patients at relapse. No karyotype with trisomy 21 exceeded 47 chromosomes. Gain of chromosome 21 was the sole anomaly in GTG-banding analysis in 2/41 patients at initial diagnosis and in 4/9 at relapse. Notably, chromosome painting analysis performed in 11 out of the 13 patients with an extra chromosome 21 revealed duplication of the normal chromosome 21 in 8, and duplication of der(21)t(12;21) in 3 patients. Furthermore, gain of der(21)t(12;21) chromosome was confined exclusively to the relapse patients. FAU - Loncarevic, I F AU - Loncarevic IF AD - Children's University Hospital, Giessen, Germany. FAU - Roitzheim, B AU - Roitzheim B FAU - Ritterbach, J AU - Ritterbach J FAU - Viehmann, S AU - Viehmann S FAU - Borkhardt, A AU - Borkhardt A FAU - Lampert, F AU - Lampert F FAU - Harbott, J AU - Harbott J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Neoplasm Proteins) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (TEL-AML1 fusion protein) SB - IM MH - Child MH - Chromosome Aberrations/*genetics MH - Core Binding Factor Alpha 2 Subunit MH - Down Syndrome/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Neoplasm Proteins/*genetics MH - *Oncogene Proteins, Fusion MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - Recurrence MH - Translocation, Genetic/*genetics EDAT- 1999/08/19 10:00 MHDA- 2000/06/20 09:00 CRDT- 1999/08/19 10:00 PHST- 1999/08/19 10:00 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1999/08/19 10:00 [entrez] AID - 10.1002/(SICI)1098-2264(199903)24:3<272::AID-GCC13>3.0.CO;2-U [pii] PST - ppublish SO - Genes Chromosomes Cancer. 1999 Mar;24(3):272-7.