Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.

doi:10.1038/ng.2495

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Article

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.

Nature genetics - 1 Jan 2013

Piazza Rocco, Valletta Simona, Winkelmann Nils, Redaelli Sara, Spinelli Roberta, Pirola Alessandra, Antolini Laura, Mologni Luca, Donadoni Carla, Papaemmanuil Elli, Schnittger Susanne, Kim Dong-Wook, Boultwood Jacqueline, Rossi Fabio, Gaipa Giuseppe, De Martini Greta P, di Celle Paola Francia, Jang Hyun Gyung, Fantin Valeria, Bignell Graham R, Magistroni Vera, Haferlach Torsten, Pogliani Enrico Maria, Campbell Peter J, Chase Andrew J, Tapper William J, Cross Nicholas C P, Gambacorti-Passerini Carlo

Abstract excerpt

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...

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Identifiers

PMID: 23222956
DOI: 10.1038/ng.2495
PMCID: PMC3588142

Genes

SETBP1
ABL1
BCR
SET

Variants

Provenance

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Source receipt: pubmed, retrieved 5 Sept 2026.

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