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Childhood acute lymphoblastic leukemia with equivocal chromosome markers of the t(I;I9) translocation
Author(s) -
Filatov Leonid V.,
Behm Frederick G.,
Pui ChingHon,
Head David R.,
Downing James R.,
Raimondi Susana C.
Publication year - 1995
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/gcc.2870130205
Subject(s) - chromosomal translocation , fluorescence in situ hybridization , fusion gene , lymphoblastic leukemia , karyotype , biology , derivative chromosome , fish <actinopterygii> , chromosome , breakpoint , cytogenetics , microbiology and biotechnology , gene , leukemia , cancer research , genetics , fishery
The t(1;19)(q23;p13) or its derivative encodes an E2A‐PBX1 fusion transcript and protein that has been shown to have important prognostic and therapeutic implications in patients with acute lymphoblastic leukemia (ALL). We describe two childhood cases in which a der(22)t( 1;22)(q21‐23;p13) cytogenetically mimicked a der( 19)t( 1; 19)(q23;p 13). In one case, which was phenotyped as early pre‐B ALL with hyperdiploidy but lacked evidence of an E2A‐PBX1 gene fusion by molecular study, the poor banding quality of chromosomes led to misinterpretation of the cytogenetic findings; a correct diagnosis was established only after analysis by the fluorescence in situ hybridization (FISH) method. The second case, which was classified as pseudodiploid pre‐B ALL, had both a derivative 19 and a derivative 22 but lacked sufficient cells for evaluation of E2A‐PBX1 gene fusion. This case was included in order to compare the der(19)t(1;19) and the der(22)t(1;22) and to pinpoint the difficulty in distinguishing these markers. FISH analysis can resolve diagnostic uncertainty in cases of ALL with equivocal chromosome 19 markers. © 1995 Wiley‐Liss, Inc.