G2Cdb::Human Disease report

Disease id
D00000090
Name
Precursor-B-cell acute lymphoblastic leukaemia
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002011 MYH11
myosin, heavy chain 11, smooth muscle
Y (15339697) Translocation fusion (with another gene) (TF) Y

References

  • An inv(16)(p13q22) positive acute myeloid leukaemia relapsing as acute precursor B-cell lymphoblastic leukaemia.

    Boeckx N, van der Velden VH, Boogaerts M, Hagemeijer A, Vandenberghe P and van Dongen JJ

    Department of Laboratory Medicine, Laboratory of Haematology, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium. nancy.boeckx@uz.kuleuven.ac.be

    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.

    Haematologica 2004;89;8;ECR28

Literature (1)

Pubmed - human_disease

  • An inv(16)(p13q22) positive acute myeloid leukaemia relapsing as acute precursor B-cell lymphoblastic leukaemia.

    Boeckx N, van der Velden VH, Boogaerts M, Hagemeijer A, Vandenberghe P and van Dongen JJ

    Department of Laboratory Medicine, Laboratory of Haematology, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium. nancy.boeckx@uz.kuleuven.ac.be

    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.

    Haematologica 2004;89;8;ECR28

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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