Mutations and karyotype predict treatment response in myelodysplastic syndromes.

American Journal of Hematology
Dame IdossaAyalew Tefferi

Abstract

We examined the influence of mutations and karyotype on conventional treatment response, specifically hematological improvement in anemia, in primary myelodysplastic syndromes (MDS). Cytogenetic and next generation sequencing (NGS)-derived mutation information was available in 357 patients (median age 74 years; 70% males); the revised international prognostic scoring system risk distribution was very high in 11%, high 15%, intermediate 17%, low 40% and very low 16%. At least one mutation was detected in 81% of patients; most frequent were SF3B1 (32%), ASXL1 (27%), TET2 (24%) and U2AF1 (15%). At median follow-up of 24 months, treatment with hypomethylating agents (HMAs) was documented in 121 (34%) patients, lenalidomide (LEN) in 55 (15%), and erythropoiesis stimulating agents (ESAs) in 136 (38%). ASXL1 mutations adversely affected response to HMAs (27% vs 48%; P = 0.02) and LEN (9% vs 43%; P = 0.04), but not ESAs (P = 0.6). LEN response was also adversely affected by U2AF1 mutations (0% vs 42%; P = 0.02) and high risk karyotype (0% vs 41% in intermediate vs 47% in low risk; P = 0.01). Patients with SF3B1 mutations were more likely to respond to LEN (56% vs 27%; P = 0.04). Contrary to previous reports, we found no association bet...Continue Reading

References

Nov 6, 2009·The New England Journal of Medicine·Ayalew Tefferi, James W Vardiman
May 18, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Felicitas TholArnold Ganser
Jul 1, 2011·The New England Journal of Medicine·Rafael BejarBenjamin L Ebert
Aug 8, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Rafael BejarBenjamin L Ebert
Jan 16, 2016·American Journal of Hematology·Naseema GangatAyalew Tefferi
Jan 27, 2017·International Braz J Urol : Official Journal of the Brazilian Society of Urology·Nian-Zeng XingJun-Hui Zhang
May 4, 2017·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Nicolaus KrögerTheo de Witte
Nov 30, 2016·Blood Advances·Ayalew TefferiAnimesh Pardanani
Mar 9, 2018·American Journal of Hematology·Ayalew TefferiNaseema Gangat
Apr 17, 2018·American Journal of Hematology·Domenico PennaAyalew Tefferi

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Citations

Mar 15, 2019·Journal of Internal Medicine·M Tobiasson, A O Kittang
Nov 13, 2019·Blood Advances·Guillermo F SanzEsperanza Such
Feb 15, 2020·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Susann WinterUwe Platzbecker
Dec 7, 2019·Hematology·Guillermo F Sanz
Dec 2, 2020·International Journal of Molecular Sciences·Fabio ForghieriMario Luppi

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