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Ref Type Journal Article
PMID (23889083)
Authors Fernandez-Mercado M, Pellagatti A, Di Genua C, Larrayoz MJ, Winkelmann N, Aranaz P, Burns A, Schuh A, Calasanz MJ, Cross NC, Boultwood J
Title Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
Journal British journal of haematology
Vol 163
Issue 2
Date 2013 Oct
URL
Abstract Text Whole exome sequencing was performed in a patient with myelodysplastic syndrome before and after progression to acute myeloid leukaemia. Mutations in several genes, including SETBP1, were identified following leukaemic transformation. Screening of 328 patients with myeloid disorders revealed SETBP1 mutations in 14 patients (4·3%), 7 of whom had -7/del(7q) and 3 had i(17)(q10), cytogenetic markers associated with shortened overall survival and increased risk of leukaemic evolution. SETBP1 mutations were frequently acquired at the time of leukaemic evolution, coinciding with increase of leukaemic blasts. These data suggest that SETBP1 mutations may play a role in MDS and chronic myelomonocytic leukaemia 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
TET2 L34F missense unknown TET2 L34F does not lie within any known functional domains of the Tet2 protein (UniProt.org). L34F has been identified in sequencing studies (PMID: 23889083, PMID: 30941510), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Mar 2020).
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