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

  • Hamadou, Walid Sabri1
  • Mani, Rahma1
  • Besbes, Sawsen1
  • Bourdon, Violaine2
  • Youssef, Yosra Ben1, 3
  • Eisinger, François4
  • Mari, Véronique5
  • Gesta, Paul6
  • Dreyfus, Hélène7
  • Bonadona, Valérie8
  • Dugast, Catherine9
  • Zattara, Hélène10
  • Faivre, Laurence11
  • Noguchi, Testsuro2
  • Khélif, Abderrahim1, 3
  • Sobol, Hagay2
  • Soua, Zohra1
  • 1 Université de Sousse, UR “Biologie moléculaire des leucémies et lymphomes”, Laboratoire de Biochimie, Faculté de Médecine de Sousse, Avenue Mohamed Karoui, Sousse, 4000, Tunisia , Sousse (Tunisia)
  • 2 Institut Paoli Calmettes, Département d’Oncologie Génétique, de Prévention et Dépistage, Marseille, France , Marseille (France)
  • 3 CHU Farhat Hached, Service d’Hématologie clinique, Sousse, Tunisia , Sousse (Tunisia)
  • 4 Centre de Lutte Contre le Cancer—Institut Paoli Calmettes, Département d’Anticipation et de Suivi du Cancer, Marseille, France , Marseille (France)
  • 5 Centre de Lutte Contre le Cancer - Centre Antoine Lacassagne, Service d’Oncologie Génétique, Nice, France , Nice (France)
  • 6 Centre Hospitalier, Service d’Oncologie Génétique, Niort, France , Niort (France)
  • 7 Institut Sainte Catherine, Avignon, France , Avignon (France)
  • 8 Centre Léon Bérard, Unité de génétique Epidémiologique, Lyon, France , Lyon (France)
  • 9 Centre Eugène Marquis, Rennes, France , Rennes (France)
  • 10 Hôpital de la Timone, Département de Génétique, Marseille, France , Marseille (France)
  • 11 CHU de Dijon, Hôpital d’Enfants, Dijon, France , Dijon (France)
Published Article
Annals of Hematology
Publication Date
Jul 27, 2017
DOI: 10.1007/s00277-017-3076-9
Springer Nature


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.

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