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Related Experiment Video

Updated: May 9, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Somatic SETBP1 mutations in myeloid malignancies.

Hideki Makishima¹, Kenichi Yoshida, Nhu Nguyen

¹Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Nature Genetics

|July 9, 2013

Summary

This summary is machine-generated.

Recurrent SETBP1 mutations are found in myeloid leukemias, impacting prognosis. These mutations, identified via whole-exome sequencing, suggest a gain-of-function mechanism in leukemic transformation.

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Published on: July 25, 2019

Area of Science:

Hematology
Genetics
Oncology

Background:

Myeloid malignancies encompass a range of blood cancers.
SETBP1 mutations have been implicated in certain myeloid leukemias.

Purpose of the Study:

To identify recurrent somatic mutations in SETBP1 in patients with myeloid malignancies.
To investigate the clinical significance and functional impact of SETBP1 mutations.

Main Methods:

Whole-exome sequencing of individuals with myeloid malignancies.
Analysis of mutation frequency, patient characteristics, and prognostic factors.
Functional studies using mouse myeloid progenitor cells.

Main Results:

Recurrent somatic SETBP1 mutations were identified in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases.
Mutations were associated with advanced age and poor prognostic factors like monosomy 7/deletion 7q.
SETBP1 mutations were acquired during leukemic evolution and conferred enhanced proliferative capacity in mouse models, suggesting a gain-of-function mechanism.

Conclusions:

Somatic SETBP1 mutations are associated with myeloid leukemic transformation and poor prognosis in myelodysplastic syndromes (MDS) and CMML.
Deep sequencing reveals a higher detection rate of SETBP1 mutations compared to conventional methods.