Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
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...
| Hoofdauteurs: | , , , , , , , , , , |
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| Formaat: | Journal article |
| Taal: | English |
| Gepubliceerd in: |
2013
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| _version_ | 1826301666489532416 |
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| author | Fernandez-Mercado, M Pellagatti, A Di Genua, C Larrayoz, M Winkelmann, N Aranaz, P Burns, A Schuh, A Calasanz, M Cross, N Boultwood, J |
| author_facet | Fernandez-Mercado, M Pellagatti, A Di Genua, C Larrayoz, M Winkelmann, N Aranaz, P Burns, A Schuh, A Calasanz, M Cross, N Boultwood, J |
| author_sort | Fernandez-Mercado, M |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T05:35:48Z |
| format | Journal article |
| id | oxford-uuid:e3da2d82-8bbe-404c-9af1-2cff9aec4d9a |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:35:48Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | oxford-uuid:e3da2d82-8bbe-404c-9af1-2cff9aec4d9a2022-03-27T10:12:15ZMutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e3da2d82-8bbe-404c-9af1-2cff9aec4d9aEnglishSymplectic Elements at Oxford2013Fernandez-Mercado, MPellagatti, ADi Genua, CLarrayoz, MWinkelmann, NAranaz, PBurns, ASchuh, ACalasanz, MCross, NBoultwood, JWhole 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. |
| spellingShingle | Fernandez-Mercado, M Pellagatti, A Di Genua, C Larrayoz, M Winkelmann, N Aranaz, P Burns, A Schuh, A Calasanz, M Cross, N Boultwood, J Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. |
| title | Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. |
| title_full | Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. |
| title_fullStr | Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. |
| title_full_unstemmed | Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. |
| title_short | Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. |
| title_sort | mutations in setbp1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression |
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