PMID- 8704231 OWN - NLM STAT- MEDLINE DCOM- 19960912 LR - 20231213 IS - 0006-4971 (Print) IS - 0006-4971 (Linking) VI - 88 IP - 3 DP - 1996 Aug 1 TI - TEL-AML1 translocations with TEL and CDKN2 inactivation in acute lymphoblastic leukemia cell lines. PG - 785-94 AB - The t(12;21) (p 13; q22) results in the fusion of the TEL gene located on chromosome 12 with the AML1 gene located on the derivative chromosome 21. Because this translocation is difficult to detect using standard cytogenetic techniques, 27 previously karyotyped B-lineage acute lymphoblastic leukemia (ALL) cell lines were evaluated for the presence of the TEL-AML1 fusion using the reverse transcriptase-polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and cDNA sequencing. Six cell lines expressed the TEL-AML1 chimeric transcript by RT-PCR and the t(12;21) was confirmed by FISH analysis with probes for TEL, AML1, and chromosome 12. While only one of the 6 cell lines with the t(12;21) lost the der(12)t(12;21)-encoded AML1-TEL fusion transcript, 4 cell lines lacked expression of the nontranslocated allele of TEL and 5 cell lines lacked expression of CDKN2. Moreover, in 2 patients (1 with the TEL-AML1 transcript and 1 without), TEL expression was lost with disease progression; le, TEL was expressed in the initial cell lines (established at diagnosis or first relapse) whereas TEL was not expressed in the cell lines established from these patients in late-stage disease. These data show the coexistence of multiple genetic defects in childhood B-lineage ALL Cell lines with t(12;21) will facilitate the study of TEL-AML1 and AML1-TEL fusion proteins as well as TEL and CDKN2 gene inactivation in leukemia transformation and progression. FAU - Kim, D H AU - Kim DH AD - Department of Pediatrics, University of Chicago IL, USA. FAU - Moldwin, R L AU - Moldwin RL FAU - Vignon, C AU - Vignon C FAU - Bohlander, S K AU - Bohlander SK FAU - Suto, Y AU - Suto Y FAU - Giordano, L AU - Giordano L FAU - Gupta, R AU - Gupta R FAU - Fears, S AU - Fears S FAU - Nucifora, G AU - Nucifora G FAU - Rowley, J D AU - Rowley JD LA - eng GR - CA40046/CA/NCI NIH HHS/United States GR - CA42557/CA/NCI NIH HHS/United States GR - CA67189/CA/NCI NIH HHS/United States GR - etc. PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Blood JT - Blood JID - 7603509 RN - 0 (Carrier Proteins) RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Cyclin-Dependent Kinase Inhibitor p16) RN - 0 (DNA, Neoplasm) RN - 0 (DNA-Binding Proteins) RN - 0 (Neoplasm Proteins) RN - 0 (Proto-Oncogene Proteins) RN - 0 (Proto-Oncogene Proteins c-ets) RN - 0 (RUNX1 protein, human) RN - 0 (Repressor Proteins) RN - 0 (Transcription Factors) SB - IM MH - Base Sequence MH - Burkitt Lymphoma/*genetics/pathology MH - Carrier Proteins/biosynthesis/*genetics MH - Child MH - Chromosomes, Human, Pair 12/*genetics/ultrastructure MH - Chromosomes, Human, Pair 21/*genetics/ultrastructure MH - Core Binding Factor Alpha 2 Subunit MH - Cyclin-Dependent Kinase Inhibitor p16 MH - DNA, Neoplasm/genetics MH - DNA-Binding Proteins/biosynthesis/genetics/*metabolism MH - Disease Progression MH - *Gene Expression Regulation, Leukemic MH - *Genes, Tumor Suppressor MH - Humans MH - In Situ Hybridization, Fluorescence MH - Molecular Sequence Data MH - Neoplasm Proteins/*genetics MH - Polymerase Chain Reaction MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics/pathology MH - *Proto-Oncogene Proteins MH - Proto-Oncogene Proteins c-ets MH - *Repressor Proteins MH - Transcription Factors/biosynthesis/*genetics/*metabolism MH - *Translocation, Genetic MH - Tumor Cells, Cultured MH - ETS Translocation Variant 6 Protein EDAT- 1996/08/01 00:00 MHDA- 1996/08/01 00:01 CRDT- 1996/08/01 00:00 PHST- 1996/08/01 00:00 [pubmed] PHST- 1996/08/01 00:01 [medline] PHST- 1996/08/01 00:00 [entrez] AID - S0006-4971(20)62499-5 [pii] PST - ppublish SO - Blood. 1996 Aug 1;88(3):785-94.