data reported herein suggest that care should be taken to accurately detect and report the ASXL1G646Wfs*12 variant in patients with PMF because of its strong adverse impact on OS and LFS. A recent report provided extensive bioinformatic advice to correctly call this variant from background noise in NGS traces, concluding that ASXL1G646Wfs*12 variant is a bona fide mutation14 ; another study indicated that this variant may represent an early mutational event in a dominant clonal population of hematopoietic cells.15 Finally, it seems reasonable, but remains to be shown, that ASXL1 G646Wfs*12 has similar adverse prognostic relevance in myelodysplastic syndromes and acute leukemia.
Spectrum of ASXL1 mutations in primary myelofibrosis: Prognostic impact of the ASXL1 p.G646Wfs∗12 mutation / Rotunno G.; Mannarelli C.; Brogi G.; Pacilli A.; Gesullo F.; Mannelli F.; Fiaccabrino S.; Sordi B.; Paoli C.; Marone I.; Rumi E.; Manfredini R.; Barosi G.; Cazzola M.; Vannucchi A.M.; Guglielmelli P.. - In: BLOOD. - ISSN 0006-4971. - ELETTRONICO. - 133:(2019), pp. 2802-2808. [10.1182/blood.2018879536]
Spectrum of ASXL1 mutations in primary myelofibrosis: Prognostic impact of the ASXL1 p.G646Wfs∗12 mutation
Rotunno G.;Mannarelli C.;Pacilli A.;Gesullo F.;Mannelli F.;FIACCABRINO, SARA;Sordi B.;Paoli C.;Marone I.;Vannucchi A. M.;Guglielmelli P.
2019
Abstract
data reported herein suggest that care should be taken to accurately detect and report the ASXL1G646Wfs*12 variant in patients with PMF because of its strong adverse impact on OS and LFS. A recent report provided extensive bioinformatic advice to correctly call this variant from background noise in NGS traces, concluding that ASXL1G646Wfs*12 variant is a bona fide mutation14 ; another study indicated that this variant may represent an early mutational event in a dominant clonal population of hematopoietic cells.15 Finally, it seems reasonable, but remains to be shown, that ASXL1 G646Wfs*12 has similar adverse prognostic relevance in myelodysplastic syndromes and acute leukemia.File | Dimensione | Formato | |
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