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.
2019
133
2802
2808
Goal 3: Good health and well-being for people
Rotunno G.; Mannarelli C.; Brogi G.; Pacilli A.; Gesullo F.; Mannelli F.; Fiaccabrino S.; Sordi B.; Paoli C.; Marone I.; Rumi E.; Manfredini R.; Baros...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1173063
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