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|Ref Type||Journal Article|
|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|
|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.|
|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|