GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.

Hélène Dreyfus, Zohra Soua, Hagay Sobol, Abderrahim Khélif, Testsuro Noguchi, Laurence Faivre, Hélène Zattara, Catherine Dugast, Valérie Bonadona, Walid Sabri Hamadou, Paul Gesta, Véronique Mari, François Eisinger, Yosra Ben Youssef, Violaine Bourdon, Sawsen Besbes, Rahma Mani

Journal: Annals of hematology 2017;96(10):1635-1639

PMID: 28752392

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Abstract

The genetic predisposition to familial hematological malignancies has been previously reported highlighting inherited gene mutations. Several genes have been reported but genetic basis remains not well defined. In this study, we extended our investigation to a potential candidate GATA2 gene which was analyzed by direct sequencing in 119 cases including familial aggregations with a variety of hematological malignancies and sporadic acute leukemia belonging to Tunisian and French populations. We reported a deleterious p.Arg396Gln GATA2 mutation in one patient diagnosed with both sporadic acute myeloid leukemia (AML) and breast cancer. We also reported several GATA2 variations in familial cases. The absence of deleterious mutations in this large cohort of familial aggregations of hematological malignancies may strengthen the hypothesis that GATA2 mutations are an important predisposing factor, although as a secondary genetic event, required for the development of overt malignant disease.

Address: UR "Biologie moléculaire des leucémies et lymphomes", Laboratoire de Biochimie, Faculté de Médecine de Sousse, Université de Sousse, Avenue Mohamed Karoui, 4000, Sousse, Tunisia. [email protected].; UR "Biologie moléculaire des leucémies et lymphomes", Laboratoire de Biochimie, Faculté de Médecine de Sousse, Université de Sousse, Avenue Mohamed Karoui, 4000, Sousse, Tunisia.; Département d'Oncologie Génétique, de Prévention et Dépistage, Institut Paoli Calmettes, Marseille, France.; Service d'Hématologie clinique, CHU Farhat Hached, Sousse, Tunisia.; Département d'Anticipation et de Suivi du Cancer, Centre de Lutte Contre le Cancer-Institut Paoli Calmettes, Marseille, France.; Service d'Oncologie Génétique, Centre de Lutte Contre le Cancer - Centre Antoine Lacassagne, Nice, France.; Service d'Oncologie Génétique, Centre Hospitalier, Niort, France.; Institut Sainte Catherine, Avignon, France.; Unité de génétique Epidémiologique, Centre Léon Bérard, Lyon, France.; Centre Eugène Marquis, Rennes, France.; Département de Génétique, Hôpital de la Timone, Marseille, France.; Hôpital d'Enfants, CHU de Dijon, Dijon, France.

DOI: 10.1007/s00277-017-3076-9

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MeSH Terms: Amino Acid Substitution, Breast Neoplasms, Family, Female, France, GATA2 Transcription Factor, Genetic Predisposition to Disease, Hematologic Neoplasms, Humans, Leukemia, Myeloid, Acute, Male, Mutation, Missense, Neoplasm Proteins, Tunisia