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Mutations inSETBP1are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression

Mutations inSETBP1are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression
Mutations inSETBP1are 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 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.
myelodysplastic syndromes, mutation, SETBP1, whole exome sequencing, disease progression
0007-1048
235-239
Fernandez-Mercado, Marta
a72143b0-30e0-4ff1-bc8b-7ed0ae7dd1e0
Pellagatti, Andrea
e96f98bb-98c5-477f-9ac5-6b9b3d238408
Di Genua, Cristina
2a333ee9-3358-4003-a4b0-3e805545d42d
Larrayoz, Maria Jose
b374147b-73bc-43f5-a3b7-6e994af58925
Winkelmann, Nils
b563bf37-a957-41ac-9caf-f3caf170d35b
Aranaz, Paula
a8649d20-cc22-4dda-8101-0e9fb393f0b8
Burns, Adam
4e818712-ed88-42d6-93cf-bbbfad3f459d
Schuh, Anna
fab77ad0-7ddd-48d4-bfc5-5db3d3a1c299
Calasanz, Maria Jose
ce4bb65c-ad91-4aa7-b453-6d2d6d0e8cae
Cross, Nicholas C. P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Boultwood, Jacqueline
653d33fa-0c0a-4a8a-b119-57a6e466b334
Fernandez-Mercado, Marta
a72143b0-30e0-4ff1-bc8b-7ed0ae7dd1e0
Pellagatti, Andrea
e96f98bb-98c5-477f-9ac5-6b9b3d238408
Di Genua, Cristina
2a333ee9-3358-4003-a4b0-3e805545d42d
Larrayoz, Maria Jose
b374147b-73bc-43f5-a3b7-6e994af58925
Winkelmann, Nils
b563bf37-a957-41ac-9caf-f3caf170d35b
Aranaz, Paula
a8649d20-cc22-4dda-8101-0e9fb393f0b8
Burns, Adam
4e818712-ed88-42d6-93cf-bbbfad3f459d
Schuh, Anna
fab77ad0-7ddd-48d4-bfc5-5db3d3a1c299
Calasanz, Maria Jose
ce4bb65c-ad91-4aa7-b453-6d2d6d0e8cae
Cross, Nicholas C. P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Boultwood, Jacqueline
653d33fa-0c0a-4a8a-b119-57a6e466b334

Fernandez-Mercado, Marta, Pellagatti, Andrea, Di Genua, Cristina, Larrayoz, Maria Jose, Winkelmann, Nils, Aranaz, Paula, Burns, Adam, Schuh, Anna, Calasanz, Maria Jose, Cross, Nicholas C. P. and Boultwood, Jacqueline (2013) Mutations inSETBP1are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. British Journal of Haematology, 163 (2), 235-239. (doi:10.1111/bjh.12491). (PMID:23889083)

Record type: Article

Abstract

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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e-pub ahead of print date: 24 July 2013
Published date: October 2013
Keywords: myelodysplastic syndromes, mutation, SETBP1, whole exome sequencing, disease progression
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 355164
URI: http://eprints.soton.ac.uk/id/eprint/355164
ISSN: 0007-1048
PURE UUID: c317dc1b-32a5-43c0-bd34-76b71f81548e
ORCID for Nicholas C. P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 09 Aug 2013 11:27
Last modified: 28 Apr 2022 01:49

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Contributors

Author: Marta Fernandez-Mercado
Author: Andrea Pellagatti
Author: Cristina Di Genua
Author: Maria Jose Larrayoz
Author: Nils Winkelmann
Author: Paula Aranaz
Author: Adam Burns
Author: Anna Schuh
Author: Maria Jose Calasanz
Author: Jacqueline Boultwood

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