Abstract
Many subtypes of acute lymphoblastic leukemia (ALL) are associated with specific chromosomal rearrangements. The complex translocation t(9;14;14), a variant of the translocation (14;14)(q11;q32), is a rare but recurrent chromosomal abnormality involving the immunoglobulin heavy-chain (IGH) and CCAAT enhancer-binding protein (CEBPE) genes in B-lineage ALL (B-ALL) and may represent a new B-ALL subgroup. We report here the case of a 5-year-old girl with B-ALL, positive for CD19, CD38 and HLA-DR. A direct technique and G-banding were used for chromosomal analysis and fluorescentin situ hybridization (FISH) with BAC probes was used to investigate a possible rearrangement of the IGH andCEBPE genes. The karyotype exhibit the chromosomal aberration 46,XX,del(9)(p21),t(14;14)(q11;q32). FISH with dual-color break-apartIGH-specific and CEPBE-specific bacterial artificial chromosome (BAC) probes showed a complex t(9;14;14) associated with a deletion of cyclin-dependent kinase inhibitor 2A (CDKN2A) and paired box gene 5 (PAX5) at 9p21-13 and duplication of the fusion gene IGH-CEBPE.
Highlights
Acute lymphoblastic leukemia (ALL) is a malignant clonal proliferation of lymphoid progenitor cells, most commonly of the B-cell lineage (B-ALL)
Two fluorescent in situ hybridization (FISH) signals were observed on the large derivative chromosome 14: an orange signal at the translocation breakpoint 14q32 (3’ part of the immunoglobulin heavy-chain (IGH) break-apart probe, 442F20) and an orange/green fusion signal at the normal IGH locus (442F20 and DJ998D24)
Based on the FISH results, the most probable interpretation of this karyotype was a complex translocation t(9;14;14) associated with a large deletion within 9p and a duplication involving at least the fusion gene IGH-CCAAT enhancer-binding protein (CEBPE)
Summary
Acute lymphoblastic leukemia (ALL) is a malignant clonal proliferation of lymphoid progenitor cells, most commonly of the B-cell lineage (B-ALL). The translocation (14;14)(q11;q32) is a reciprocal translocation and a variant of inv(14)(q11q32) These rearrangements should not be confused with t(14;14)(q11;q32) and inv(14)(q11q32) seen in T-cell malignancies in ataxiatelangiectasia (AT) patients and non-AT patients (Bertness et al, 1990; Matutes et al, 1991; Minegishi et al, 1991; Taylor et al, 1996; Przybylski et al, 2005; Graux et al, 2006; Haider et al, 2006). The former involves the T-cell receptor (TCR) loci TCRA at 14q11 and TCL1 at 14q32. The same chromosomal rearrangements in B-ALL involve the IGH (14q32) and CEBPE (14q11) loci (Table 1)
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