First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype

Ana C Glembotsky; Cecilia P Marin Oyarzún; Geraldine De Luca; Christophe Marzac; Nathalie Auger; Nora P Goette; Rosana F Marta; Hana Raslova; Paula G Heller

doi:10.3324/haematol.2020.253070

First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype

Haematologica. 2020 Oct 1;105(10):e535. doi: 10.3324/haematol.2020.253070.

Authors

Ana C Glembotsky¹, Cecilia P Marin Oyarzún¹, Geraldine De Luca¹, Christophe Marzac², Nathalie Auger³, Nora P Goette¹, Rosana F Marta¹, Hana Raslova⁴, Paula G Heller¹

Affiliations

¹ Instituto Lanari, Universidad de Buenos Aires, Hematologia Investigacion, Buenos Aires, Argentina.
² INSERM UMR 1170, Gustave Roussy, Universite' Paris-Saclay, Villejuif, France.
³ Department of Tumor Genetics, Gustave Roussy Cancer Campus, Universite Paris-Saclay, Villejuif, France.
⁴ INSERM UMR 1170, Gustave Roussy, Villejuif, France.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blood Platelet Disorders* / diagnosis
Blood Platelet Disorders* / genetics
Humans
Leukemia, Myeloid, Acute* / genetics
Mosaicism
Phenotype

Grants and funding

Funding: this study was supported by grants from the Fondation Nelia et Amadeo Barletta (to PH, 2017), the Ligue Nationale Contre le Cancer (équipe labellisée 2019 to HR) and the cooperation program between France and Argentina, Ecos-Sud-Ministerio de Ciencia, Tecnología e Innovación Productiva (MINCyT) (to HR and PH, 2016). CMO was supported by a postdoctoral fellowship from the Fondation Nelia et Amadeo Barletta and from the Fondation de la Recherche Médicale.