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Hyperdiploidy and E2A‐PBX1 fusion in an adult with t(1;19)+ acute lymphoblastic leukemia: Case report and review of the literature
Author(s) -
Hunger Stephen P.,
Sun Tsieh,
Boswell Analea F.,
Carroll Andrew J.,
McGavran Loris
Publication year - 1997
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199712)20:4<392::aid-gcc11>3.0.co;2-p
Subject(s) - immunophenotyping , biology , antigen , fusion gene , lineage (genetic) , microbiology and biotechnology , immunology , genetics , gene
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 (∼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. Genes Chromosomes Cancer 20:392–398 (1997). © 1997 Wiley‐Liss, Inc.