Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.

doi:10.1002/ajh.23611

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Article

Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.

American journal of hematology - 1 Feb 2014

Hou Hsin-An, Kuo Yuan-Yeh, Tang Jih-Luh, Chou Wen-Chien, Yao Ming, Lai Yan-Jun, Lin Chien-Chin, Chen Chien-Yuan, Liu Chieh-Yu, Tseng Mei-Hsuan, Huang Chi-Fei, Chiang Ying-Chieh, Lee Fen-Yu, Liu Ming-Chih, Liu Chia-Wen, Huang Shang-Yi, Ko Bor-Sheng, Wu Shang-Ju, Tsay Woei, Chen Yao-Chang, Tien Hwei-Fang

Abstract excerpt

Mutations of the SET binding protein 1 (SETBP1) gene have been identified in patients with myeloid neoplasms, but the clinical relevance of this mutation and its association with other gene mutations in myelodysplastic syndrome (MDS) and the stability during disease progression remains unclear. Mutations in SETBP1 gene at exon 4 were analyzed by polymerase chain reaction and direct sequencing in 430 MDS patients....

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Identifiers

PMID: 24127063
DOI: 10.1002/ajh.23611

Genes

SETBP1
ASXL1
SET
SRSF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.PMID 24127063Read ↗

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.Semantic proximity Read ↗

Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis.Semantic proximity Read ↗

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SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.Semantic proximity Read ↗

Somatic Mutations in Schinzel-Giedion Syndrome Gene SETBP1 Determine Progression in Myeloid MalignanciesSemantic proximity Read ↗

SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.Semantic proximity Read ↗

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SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndromeSemantic proximity Read ↗

IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution.Semantic proximity Read ↗

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