Article
Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.
European journal of haematology - 1 Jan 2018
Duployez Nicolas, Abou Chahla Wadih, Lejeune Sophie, Marceau-Renaut Alice, Letizia Guillaume, Boyer Thomas, Geffroy Sandrine, Peyrouze Pauline, Grardel Nathalie, Nelken Brigitte, Michel Gérard, Bertrand Yves, Preudhomme Claude
Abstract excerpt
ETV6 is a target of recurrent aberrations in sporadic and familial acute lymphoblastic leukemia (ALL). Here, we report on a new pedigree with a germline ETV6 mutation in which the index patient and his father developed high hyperdiploid (HeH) ALL and polycythemia vera at age 13 and 51, respectively. The index patient achieved durable complete remission without transplantation but had persistent moderate...
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