MLL Munich Leukemia Laboratory Germany

MLL2 s r o Prague Czech Republic

See more in PubMed

Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15):1384–1395. PubMed PMC

Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64–69. PubMed

Visconte V, Makishima H, Jankowska A, et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia. 2012;26(3):542–545. PubMed

Patnaik MM, Lasho TL, Hodnefield JM, et al. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. Blood. 2012;119(2):569–572. PubMed PMC

Jeromin S, Haferlach T, Weissmann S, et al. Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations. Haematologica. 2015;100(4):e125–127. PubMed PMC

Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–2405. PubMed

Malcovati L, Papaemmanuil E, Bowen DT, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118(24):6239–6246. PubMed PMC

Papaemmanuil E, Gerstung M, Bullinger L, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med. 2016; 374(23):2209–2221. PubMed PMC

Juneja SK, Imbert M, Sigaux F, Jouault H, Sultan C. Prevalence and distribution of ringed sideroblasts in primary myelodysplastic syndromes. J Clin Pathol. 1983;36(5):566–569. PubMed PMC

Thiede C, Steudel C, Mohr B, et al. Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis. Blood. 2002;99(12):4326–4335. PubMed

Weisser M, Kern W, Schoch C, Hiddemann W, Haferlach T, Schnittger S. Risk assessment by monitoring expression levels of partial tandem duplications in the MLL gene in acute myeloid leukemia during therapy. Haematologica. 2005;90(7):881–889. PubMed

Lindsley RC, Mar BG, Mazzola E, et al. Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood. 2015; 125(9):1367–1376. PubMed PMC

Grimwade D, Hills RK, Moorman AV, et al. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood. 2010;116(3):354–365. PubMed

Alpermann T., J S, Haferlach C., Kern W., Schnittger S., Haferlach T. MDS and AML with ≥15% ring sideroblasts share overlapping features in cytogenetics but demonstrate different patterns and incidences of SF3B1 mutations. Blood. 2013;122(21):2776–2776. PubMed