The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.
ETV6
NGS
myelodysplastic syndrome
myeloid neoplasia
transcription factor
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
revised:
06
04
2023
received:
23
01
2023
accepted:
25
04
2023
medline:
13
7
2023
pubmed:
5
5
2023
entrez:
5
5
2023
Statut:
ppublish
Résumé
ETV6 mutations are rare but recurrent somatic events in myeloid neoplasms and are negatively prognostic in myelodysplastic syndrome. We set out to examine the clinical and molecular characteristics of patients undergoing investigation for myeloid neoplasms, found to have deleterious ETV6 mutations. ETV6 mutations occurred in 33 of 5793 (0.6%) cases investigated and predominantly in high-risk disease entities including MDS with increased blasts, primary myelofibrosis and AML, myelodysplasia-related. In three cases, isolated iso (17q) karyotype was concurrently detected, an otherwise rare karyotype in myeloid neoplasms. ETV6 mutations were frequently subclonal and never occurred as an isolated abnormality with ASXL1 (n = 22, 75%), SRSF2 (n = 14, 42%) and SETBP1 (n = 11, 33%) the predominant co-mutations. Restricting to patients with MDS, higher rates of ASXL1, SETBP1, RUNX1 and U2AF1 mutations occurred in ETV6 mutated cases, relative to a consecutive control cohort with wild-type ETV6. The median OS of the cohort was 17.5 months. This report highlights the clinical and molecular associations of somatic ETV6 mutations in myeloid neoplasms, suggests their occurrence as a later event, and proposes further translational research questions for their role in myeloid neoplasia.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
279-283Informations de copyright
© 2023 British Society for Haematology and John Wiley & Sons Ltd.
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