title: An inv(16)(p13q22) positive acute myeloid leukaemia relapsing as acute precursor B-cell lymphoblastic leukaemia.
abstract: We describe a case of a 38-year old male with inv(16)(p13q22) positive acute myeloid leukaemia (AML) with eosinophilia, relapsing after a molecular remission of almost three years. Remarkably, the leukaemia at relapse was identified as a precursor-B-cell acute lymphoblastic leukaemia (B-ALL) by cytology and immunophenotyping, but was inv(16)(p13q22) positive as revealed by interphase FISH, FICTION analysis, and real-time quantitative PCR. Analysis of immunoglobulin and T-cell receptor genes showed a bi-allelic DH2-JH rearrangement at relapse, but not at diagnosis. These findings indicate a myeloid to lymphoid lineage switch from an inv(16)(p13q22) positive leukaemia and show that IGH gene rearrangements can occur in the presence of CBFB-MYH11 fusion transcripts.
authors.affiliation: Department of Laboratory Medicine, Laboratory of Haematology, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium. nancy.boeckx@uz.kuleuven.ac.be
authors.forename: Nancy
authors.initials: N
authors.lastname: Boeckx
authors.forename: Vincent H J
authors.initials: VH
authors.lastname: van der Velden
authors.forename: Marc
authors.initials: M
authors.lastname: Boogaerts
authors.forename: Anne
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: Peter
authors.initials: P
authors.lastname: Vandenberghe
authors.forename: Jacques J M
authors.initials: JJ
authors.lastname: van Dongen
mesh_terms: D000328:Adult; D002051:Burkitt Lymphoma / Q000235:genetics*; D007446:Chromosome Inversion / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D015321:Gene Rearrangement; D006801:Humans; D017578:Immunoglobulin Class Switching; D007143:Immunoglobulin Heavy Chains; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction
chemical_list: D007143:Immunoglobulin Heavy Chains