Ontology highlight
ABSTRACT:
SUBMITTER: Piazza R
PROVIDER: S-EPMC3588142 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Piazza Rocco R Valletta Simona S Winkelmann Nils N Redaelli Sara S Spinelli Roberta R Pirola Alessandra A Antolini Laura L Mologni Luca L Donadoni Carla C Papaemmanuil Elli E Schnittger Susanne S Kim Dong-Wook DW Boultwood Jacqueline J Rossi Fabio F Gaipa Giuseppe G De Martini Greta P GP di Celle Paola Francia PF Jang Hyun Gyung HG Fantin Valeria V Bignell Graham R GR Magistroni Vera V Haferlach Torsten T Pogliani Enrico Maria EM Campbell Peter J PJ Chase Andrew J AJ Tapper William J WJ Cross Nicholas C P NC Gambacorti-Passerini Carlo C
Nature genetics 20121209 1
Atypical chronic myeloid leukemia (aCML) shares clinical and laboratory features with CML, but it lacks the BCR-ABL1 fusion. We performed exome sequencing of eight aCMLs and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases. Targeted resequencing of 70 aCMLs, 574 diverse hematological malignancies and 344 cancer cell lines identified SETBP1 mutations in 24 cases, including 17 of 70 aCMLs (24.3%; 95% confidence interval (CI) = 16-35%). Most mutations (92%) ...[more]