A case of mature B-cell ALL with coexistence of t(1;19) and t(14;18) and expression of the E2A/PBX1 fusion gene

The translocation t(1;19)(q23;p13) is found in 3-5% of all acute lymphoblastic leukaemias (ALL) and results in the expression of an E2A/PBX1 hybrid gene transcript. This translocation is very closely associated with a pre-B phenotype. t(14;18) is associated with follicular B-cell lymphoma and is cha...

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Published inBritish journal of haematology Vol. 94; no. 1; p. 133
Main Authors Rowe, D, Devaraj, P E, Irving, J A, Hogarth, L, Hall, A G, Turner, G E
Format Journal Article
LanguageEnglish
Published England 01.07.1996
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Summary:The translocation t(1;19)(q23;p13) is found in 3-5% of all acute lymphoblastic leukaemias (ALL) and results in the expression of an E2A/PBX1 hybrid gene transcript. This translocation is very closely associated with a pre-B phenotype. t(14;18) is associated with follicular B-cell lymphoma and is characterized by over-expression of the bcl-2 oncogene. We describe a case of ALL in an adult with a mature B-cell immunophenotype and a single abnormal cell line with a complex karyotype showing both t(1;19) and t(14;18). Two reports of this phenomenon have been published previously and molecular analysis, where performed, showed the E2A gene was not rearranged, suggesting the t(1;19) was a molecular variant of the established translocation. In contrast, molecular analysis of our case demonstrated expression of the E2A/PBX1 fusion transcript typically associated with t(1;19) in pre-B ALL but showed it to be present at an extremely low level, despite the abnormal karyotype being found in the majority of metaphase cells. Analysis of bcl-2 expression showed a significant up-regulation. A down-regulation of the E2A/PBX1 hybrid gene as a consequence of the enhanced expression of bcl-2 may be a possible mechanism for this finding.
ISSN:0007-1048
DOI:10.1046/j.1365-2141.1996.d01-1754.x