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References
Niemeyer CM, Baumann I . Classification of childhood aplastic anemia and myelodysplastic syndrome. Hematology Am Soc Hematol Educ Program 2011; 2011: 84–89.
Wlodarski MW, Hirabayashi S, Pastor V, Stary J, Hasle H, Masetti R et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood 2016; 127: 1387–1397.
Gohring G, Michalova K, Beverloo HB, Betts D, Harbott J, Haas OA et al. Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome. Blood 2010; 116: 3766–3769.
Hirabayashi S, Flotho C, Moetter J, Heuser M, Hasle H, Gruhn B et al. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML. Blood 2012; 119: e96–e99.
Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 2011; 364: 2496–2506.
Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 2014; 28: 241–247.
Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 2013; 122: 3616–3627, quiz 3699.
Malcovati L, Papaemmanuil E, Ambaglio I, Elena C, Galli A, Della Porta MG et al. Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood 2014; 124: 1513–1521.
Lundberg P, Karow A, Nienhold R, Looser R, Hao-Shen H, Nissen I et al. Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood 2014; 123: 2220–2228.
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127: 2391–2405.
Yoshimi A, Toya T, Kawazu M, Ueno T, Tsukamoto A, Iizuka H et al. Recurrent CDC25C mutations drive malignant transformation in FPD/AML. Nat Commun 2014; 5: 4770.
Churpek JE, Pyrtel K, Kanchi KL, Shao J, Koboldt D, Miller CA et al. Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood 2015; 126: 2484–2490.
Inoue D, Kitaura J, Matsui H, Hou HA, Chou WC, Nagamachi A et al. SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. Leukemia 2015; 29: 847–857.
Hinds DA, Barnholt KE, Mesa RA, Kiefer AK, Do CB, Eriksson N et al. Germline variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms. Blood 2016; 128: 1121–1128.
Stieglitz E, Taylor-Weiner AN, Chang TY, Gelston LC, Wang YD, Mazor T et al. The genomic landscape of juvenile myelomonocytic leukemia. Nat Genet 2015; 47: 1326–1333.
Liu YL, Castleberry RP, Emanuel PD . PTEN deficiency is a common defect in juvenile myelomonocytic leukemia. Leukemia Res 2009; 33: 671–677.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465–468.
Acknowledgements
We are thankful to Christina Jäger, Sophia Hollander, Sandra Zolles, Alexandra Fischer, Wilfried Truckenmüller, Peter Nöllke and Anne Strauss (Freiburg) for excellent laboratory assistance and for the data management, and to Pontus Lundberg (Basel) for the data analysis. The funding was obtained from Deutsche Krebshilfe (Max Eder grant #109005) to MWW and the MDS consortium grant (#110293) to CF and CMN, German Federal Ministry of Education and Research (DKTK German cancer consortium, molecular diagnostics of pediatric malignancies) to CMN, CF and MWW. Swiss Cancer League (KLS-2950-02-2012) and Else Kröner-Fresenius Foundation (2011_A01) to RCS.
Author contributions
VP, MWW, CF, CMN contributed to study design and manuscript writing. BS, CF, CMN, MWW, TR, GG, MN, AY, SS, IB, GR, DL were involved in the care of patients, testing procedures and sample acquisition. MWW, VP, AK, JW, RCS, RN carried out the research. All authors read and approved the manuscript.
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Pastor, V., Hirabayashi, S., Karow, A. et al. Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia 31, 759–762 (2017). https://doi.org/10.1038/leu.2016.342
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DOI: https://doi.org/10.1038/leu.2016.342
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