Expression of the E2A-PBX1 fusion transcripts in t(1;19)(q23;p13) and der(19)t(1;19) at diagnosis and in remission of acute lymphoblastic leukemia with different B lineage immunophenotypes

Leukemia. 1995 May;9(5):821-5.


The chromosomal translocation t(1;19)(q23;p13) and its variant form der(19)t(1;19) found in 3-5% of acute lymphoblastic leukemia (ALL) results in the expression of the E2A-PBX1 fusion transcript. Although strongly associated with a pre-B immunophenotype, we report the occurrence of t(1;19) in bone marrow or peripheral blood in nine patients with ALL with the following immunophenotypes: pre-B ALL (four), c-ALL (two), c-ALL clg not tested (one), null-ALL (one) and mature B-ALL (one). The E2A-PBX1 fusion transcript investigated by reverse-transcriptase polymerase chain reaction (RT-PCR) was seen in all patients at diagnosis and/or on follow-up samples. Six patients are alive in first clinical remission. Of these patients, three were PCR+ve from between 2 and 38 months from diagnosis, and three were PCR-ve when examined at 5, 26 and 51 months from diagnosis. Two patients are in second remission. One was PCR+ve at 18 months, suffered a CNS relapse at 21 months but was PCR-ve 1 month later. The other was PCR+ve in remission at 2 and 11 months from diagnosis and in testicular relapse at 31 months, but was PCR-ve 5 months later. The remaining patient died 2 months from diagnosis and was not investigated in remission. The prognostic significance of these findings remains to be investigated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • B-Lymphocytes / immunology
  • Base Sequence
  • Blotting, Southern
  • Burkitt Lymphoma / diagnosis*
  • Burkitt Lymphoma / genetics*
  • Burkitt Lymphoma / pathology
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 19*
  • Female
  • Gene Expression
  • Gene Rearrangement
  • Genetic Variation
  • Homeodomain Proteins / genetics*
  • Humans
  • Immunophenotyping
  • Infant
  • Karyotyping
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction
  • Remission Induction
  • Transcription, Genetic*
  • Translocation, Genetic*


  • Homeodomain Proteins
  • Oncogene Proteins, Fusion
  • E2A-Pbx1 fusion protein