Article
Recurrent ETNK1 mutations in atypical chronic myeloid leukemia.
Blood - 15 Jan 2015
Gambacorti-Passerini Carlo B, Donadoni Carla, Parmiani Andrea, Pirola Alessandra, Redaelli Sara, Signore Giovanni, Piazza Vincenzo, Malcovati Luca, Fontana Diletta, Spinelli Roberta, Magistroni Vera, Gaipa Giuseppe, Peronaci Marco, Morotti Alessandro, Panuzzo Cristina, Saglio Giuseppe, Usala Emilio, Kim Dong-Wook, Rea Delphine, Zervakis Konstantinos, Viniou Nora, Symeonidis Argiris, Becker Heiko, Boultwood Jacqueline, Campiotti Leonardo, Carrabba Matteo, Elli Elena, Bignell Graham R, Papaemmanuil Elli, Campbell Peter J, Cazzola Mario, Piazza Rocco
Abstract excerpt
Despite the recent identification of recurrent SETBP1 mutations in atypical chronic myeloid leukemia (aCML), a complete description of the somatic lesions responsible for the onset of this disorder is still lacking. To find additional somatic abnormalities in aCML, we performed whole-exome sequencing on 15 aCML cases. In 2 cases (13.3%), we identified somatic missense mutations in the ETNK1 gene. Targeted...
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