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. 2016 Dec;101(12):e479-e481.
doi: 10.3324/haematol.2016.151753. Epub 2016 Sep 1.

Lack of splice factor and cohesin complex mutations in pediatric myelodysplastic syndrome

Julia C Obenauer  1   2 , François G Kavelaars  1 , Mathijs A Sanders  1 , Remco M Hoogenboezem  1 , Andrica C H de Vries  2 , Paulina M H van Strien  1 , Valerie de Haas  3 , Franco Locatelli  4 , Henrik Hasle  5 , Peter J M Valk  1 , Ivo P Touw  6 , Marry M van den Heuvel-Eibrink  7   8
Affiliations

Lack of splice factor and cohesin complex mutations in pediatric myelodysplastic syndrome

Julia C Obenauer et al. Haematologica. 2016 Dec.
No abstract available

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Figures

Figure 1.
Figure 1.
Mutational landscape of childhood myelodys-plastic syndromes (MDS). Each column represents one patient, each row a particular gene, as indicated on the left. Filled squares show mutations in the gene indicated. Dark blue: homozygous mutations with a variant allele frequency (VAF) greater than 80%; purple: heterozygous mutations (VAF 40%–79%); light blue: subclonal mutations (VAF <40%). Patients are divided according to MDS type (primary and secondary MDS) and subtype [refractory cytopenia (RC), advanced MDS (RAEB or RAEB-t), or as indicated]. Patient numbers match the sequencing data provided in Online Supplementary Table S2. Other karyotype: one chromosomal aberration other than monosomy 7 or trisomy 8, but not otherwise specified. *Only odd patient numbers are indicated for clarity.
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References

    1. Niemeyer CM, Baumann I. Myelodysplastic syndrome in children and adolescents. Semin Hematol. 2008;45(1):60–70. - PubMed
    1. Boultwood J, Perry J, Pellagatti A, et al. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. 2010;24(5):1062–1065. - PubMed
    1. Grand FH, Hidalgo-Curtis CE, Ernst T, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood. 2009;113(24):6182–6192. - PubMed
    1. Graubert TA, Shen D, Ding L, et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet. 2012;44(1):53–57. - PMC - PubMed
    1. Langemeijer SM, Kuiper RP, Berends M, et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet. 2009;41(7):838–842. - PubMed

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