Hyperdiploidy and E2A-PBX1 fusion in an adult with t(1;19)+ acute lymphoblastic leukemia: case report and review of the literature

Genes Chromosomes Cancer. 1997 Dec;20(4):392-8. doi: 10.1002/(sici)1098-2264(199712)20:4<392::aid-gcc11>3.0.co;2-p.

Abstract

The t(1;19)(q23;p13), detected cytogenetically in 5-6% of cases, is one of the most common translocations in childhood acute lymphoblastic leukemia (ALL). Most t(1;19)+ ALLs are pseudodiploid or contain fewer than 50 chromosomes, are classified as pre-B based on expression of cytoplasmic, but not surface, immunoglobulin (clg+/slg-), express a characteristic pattern of cell surface antigens, and contain E2A-PBX1 fusion mRNAs. A minority of cases are early pre-B (clg-/slg-), do not express the characteristic pattern of cell surface antigens, and lack E2A-PBX1 fusion mRNAs. These latter cases are frequently hyperdiploid, with a modal chromosome number of 55-57. The incidence of the t(1;19) in adults with ALL (approximately 3%) appears to be similar to that observed in children, but the genetic and immunophenotypic features of adult t(1;19)+ ALL have not been described extensively. We report a case of t(1;19)+ ALL occurring in a 38-year-old man in the setting of hyperdiploidy > 50. Despite this feature, this case was pre-B, conformed to the classic t(1;19) immunophenotype, and expressed E2A-PBX1 fusion mRNAs. This prompted us to review the published literature on ploidy and genetic features of t(1;19)+ ALLs. Overall, E2A-PBX1 fusion occurred in 95% (102/107) of t(1;19)+ B-lineage ALLs with 50 or fewer chromosomes, 80% of which were pseudodiploid, vs. only 25% (2/8) of t(1;19)+ ALLs with more than 50 chromosomes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 1 / genetics*
  • Chromosomes, Human, Pair 19 / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Immunophenotyping
  • Karyotyping
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Ploidies*
  • Polymerase Chain Reaction
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / immunology
  • RNA, Messenger / analysis
  • RNA, Neoplasm / analysis
  • Translocation, Genetic / genetics

Substances

  • Homeodomain Proteins
  • Oncogene Proteins, Fusion
  • RNA, Messenger
  • RNA, Neoplasm
  • E2A-Pbx1 fusion protein