PMID: 7542913Jun 1, 1995Paper

Childhood acute lymphoblastic leukemia with equivocal chromosome markers of the t(1;19) translocation

Genes, Chromosomes & Cancer
L V FilatovS C Raimondi

Abstract

The t(1;19)(q23;p13) or its derivative encodes an E2A-PBXI 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;p13). 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.

References

Aug 1, 1990·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·S C RaimondiG K Rivera
Nov 1, 1984·Cancer Genetics and Cytogenetics·D L WilliamsW Lemonds
Dec 1, 1994·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·C H PuiF G Behm

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Citations

Aug 5, 1998·Cancer Genetics and Cytogenetics·S SavaşanE Abella
Feb 20, 2007·Pediatric Clinics of North America·Irena BukaAlvaro R Osornio Vargas

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