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

Authors
  • Hamadou, Walid Sabri1
  • Mani, Rahma2
  • Besbes, Sawsen2
  • Bourdon, Violaine3
  • Youssef, Yosra Ben2, 4
  • Eisinger, François5
  • Mari, Véronique6
  • Gesta, Paul7
  • Dreyfus, Hélène8
  • Bonadona, Valérie9
  • Dugast, Catherine10
  • Zattara, Hélène11
  • Faivre, Laurence12
  • Noguchi, Testsuro3
  • Khélif, Abderrahim2, 4
  • Sobol, Hagay3
  • Soua, Zohra2
  • 1 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] , (Tunisia)
  • 2 UR "Biologie moléculaire des leucémies et lymphomes", Laboratoire de Biochimie, Faculté de Médecine de Sousse, Université de Sousse, Avenue Mohamed Karoui, 4000, Sousse, Tunisia. , (Tunisia)
  • 3 Département d'Oncologie Génétique, de Prévention et Dépistage, Institut Paoli Calmettes, Marseille, France. , (France)
  • 4 Service d'Hématologie clinique, CHU Farhat Hached, Sousse, Tunisia. , (Tunisia)
  • 5 Département d'Anticipation et de Suivi du Cancer, Centre de Lutte Contre le Cancer-Institut Paoli Calmettes, Marseille, France. , (France)
  • 6 Service d'Oncologie Génétique, Centre de Lutte Contre le Cancer - Centre Antoine Lacassagne, Nice, France. , (France)
  • 7 Service d'Oncologie Génétique, Centre Hospitalier, Niort, France. , (France)
  • 8 Institut Sainte Catherine, Avignon, France. , (France)
  • 9 Unité de génétique Epidémiologique, Centre Léon Bérard, Lyon, France. , (France)
  • 10 Centre Eugène Marquis, Rennes, France. , (France)
  • 11 Département de Génétique, Hôpital de la Timone, Marseille, France. , (France)
  • 12 Hôpital d'Enfants, CHU de Dijon, Dijon, France. , (France)
Type
Published Article
Journal
Annals of Hematology
Publisher
Springer-Verlag
Publication Date
Oct 01, 2017
Volume
96
Issue
10
Pages
1635–1639
Identifiers
DOI: 10.1007/s00277-017-3076-9
PMID: 28752392
Source
Medline
Keywords
License
Unknown

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.

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