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Ref Type Journal Article
PMID (24127063)
Authors Hou HA, Kuo YY, Tang JL, Chou WC, Yao M, Lai YJ, Lin CC, Chen CY, Liu CY, Tseng MH, Huang CF, Chiang YC, Lee FY, Liu MC, Liu CW, Huang SY, Ko BS, Wu SJ, Tsay W, Chen YC, Tien HF
Title Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.
Journal American journal of hematology
Vol 89
Issue 2
Date 2014 Feb
Abstract Text 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. The results were correlated with clinical features, cytogenetics, gene mutations and treatment outcomes. SETBP1 mutations were identified in 14 (3.3%) of the 430 patients with primary MDS based on the FAB classification and 8 (2.4%) of the 333 patients based on the WHO classification. The SETBP1 mutation was closely associated with higher white blood cell counts, isochromosome of 17q, monosomy 7, and mutations of ASXL1, EZH2 and SRSF2. With a median follow-up of 43.9 months, MDS patients, based on either the FAB or WHO classification, had a significantly poorer overall survival (OS) if they harbored SETBP1 mutation. Further, SETBP1 mutation was an independent poor prognostic factor for OS (HR = 1.842, CI 95%, 1.1018-3.332, P = 0.043) irrespective of age, sex, and the International Prognostic Scoring System. Sequential analysis showed that the original SETBP1 mutations in the eight SETBP1-mutated patients studied were retained while two of the 101 SETBP1-wild patients acquired novel SETBP1 mutations during follow-ups. The SETBP1 mutation is associated with poor prognosis in MDS. The mutation can be acquired during the clinical course suggesting it may play a role in disease progression.


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
SETBP1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in SETBP1 were associated with poor prognosis in patients with myelodysplastic syndrome (PMID: 28447248, PMID: 28158286, PMID: 24127063, PMID: 23889083, PMID: 23832012). 23889083 24127063 28447248 23832012 28158286