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    Cancer Genet Cytogenet. 2008 Aug;185(1):47-50.

    RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature.

    De Braekeleer E, Douet-Guilbert N, Le Bris MJ, Morel F, Férec C, De Braekeleer M.

    Source

    Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, F-29238 Brest, Cedex 3, France.

    Abstract

    We report here a 73-year old female who was admitted for hematomas, dyspnea, and fever. Hematological data showed pancytopenia with 9% blast cells positive for CD13, CD33, CD34, HLAD2, and myeloperoxydase. A diagnosis of acute myeloid leukemia (AML) type 2 (FAB classification) was made. Banding cytogenetic techniques performed on bone marrow cells showed a 48,XX,+8,+9,del(9)(q22q33)x2 ,t(16;21)(q24;q22)[20]/46,XX[2] karyotype. Fluorescence in situ hybridization (FISH) with BACs covering the RUNX1 (alias AML1) (band 21q22) and MTG16 (band 16q24) gene showed a fusion of both genes. The t(16;21)(q24;q22) has been described in 16 AML cases, including ours. Eleven patients had received chemotherapy for a previous cancer, most of them were been treated with DNA-topoisomerase II inhibitors known to be associated with chromosomal translocations involving the RUNX1 gene. The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity.

    PMID:
    18656694
    [PubMed - indexed for MEDLINE]

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