The t(1;19) (q23;p13) results in consistent fusion of E2A and PBX1 coding sequences in acute lymphoblastic leukemias

Stephen P. Hunger, Naomi Galili, Andrew J. Carroll, William M. Crist, Michael P. Link, Michael L. Cleary

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202 Scopus citations

Abstract

The t(1;19)(q23;p13) chromosomal translocation is observed cytogenetically in 25% of children with pre-B-cell acute lymphoblastic leukemia (ALL) and is associated with an adverse treatment outcome. The t(1;19) juxtaposes the E2A gene from chromosome 19 with the PBX1 gene on chromosome 1, leading to the production of fusion transcripts and resultant chimeric proteins that contain the transcriptional-activating motif of E2A and the DNA-binding homeodomain of PBX1. To investigate the molecular nature of E2A/PBX1 fusion in patients with t(1;19) ALL we used an RNA-based polymerase chain reaction (PCR) procedure to amplify a portion of the chimeric transcript. We detected E2A/PBX1 fusion transcripts in cells from 97% (37 of 38) of cases in which the t(1;19) had been observed cytogenetically. Molecular evidence of E2A/PBX1 fusion transcripts was also observed in a patient in whom a t(1;19) was not detected cytogenetically and in one patient with subclinical levels of minimal residual disease before overt clinical relapse. In all PCR-positive cases the junction of E2A and PBX1 coding sequences occurred at precisely the same location as demonstrated by hybridization of PCR products with a fusion site-specific detection oligonucleotide. These findings demonstrate the consistent fusion of E2A and PBX1 coding sequences resulting from t(1;19) and suggest that sitespecific fusion of E2A and PBX1 is an important pathogenic event in t(1;19) ALL.

Original languageEnglish
Pages (from-to)687-693
Number of pages7
JournalBlood
Volume77
Issue number4
StatePublished - 15 Feb 1991

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