Highly variable mutational profile of ASXL1 in myelofibrosis

Marc Sorigué, Josep Maria Ribera, Olga García, Marta Cabezón, Patricia Vélez, Silvia Marcé, Blanca Xicoy, Cristalina Fernández, Joan Buch, Montserrat Cortes, Esther Plensa, David Gallardo, Concepción Boqué, Evarist Feliu, Lurdes Zamora

Producció científica: Contribució a una revistaArticleRecercaAvaluat per experts

5 Cites (Scopus)

Resum

© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Objective: Somatic mutations in ASXL1 seem to have a negative prognostic impact in patients with several myeloid neoplasms, including myelofibrosis (MF). The aim of this work was to determine the prevalence and profile of ASXL1 mutations in MF. Methods: We analyzed mutations in ASXL1 in 70 consecutive MF patients from 8 Spanish hospitals by means of Sanger sequencing, as well as JAK2, CALR, and MPL mutations. Results: ASXL1 mutations were found in 16/70 (23%) of cases, most commonly p.Gly646TrpfsX12 (5/16). Most mutations (13/16) were frameshift mutations. Of 54 ASXL1- wild-type patients, 32 (59%) had at least one single nucleotide polymorphism (SNP), 27 of them had g.78128C>T, g.79017A>C, and g.79085T>C [triple SNP (TSNP) patients]. The 5-yr overall survival probability of TSNP patients was 67% (95% CI, 43–91%) vs. 90% (95% CI, 77–100%) in ASXL1-WT patients (P = 0.152). Conclusion: ASXL1 mutations were found in 23% of cases, p.Gly646TrpfsX12 being the most frequent. About 85% of mutations were found only in individual cases and 46% had not previously been reported, a pattern also seen in other series. Fifty percent of ASXL1-WT patients had a combination of three specific SNPs that might have a prognostic correlation that needs to be determined in larger series.
Idioma originalEnglish
Pàgines (de-a)331-335
RevistaEuropean Journal of Haematology
Volum97
Número4
DOIs
Estat de la publicacióPublicada - 1 d’oct. 2016

Fingerprint

Navegar pels temes de recerca de 'Highly variable mutational profile of ASXL1 in myelofibrosis'. Junts formen un fingerprint únic.

Com citar-ho