High frequency of RUNX1 mutation in myelodysplastic syndrome patients with whole-arm translocation of der(1;7)(q10;p10)

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  1. 1

    Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al(eds) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press: Lyon, France, 2008.

  2. 2

    Haase D, Germing U, Schanz J, Pfeilstöcker M, Nösslinger T, Hildebrandt B et al. New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. Blood 2007; 110: 4385–4395.

  3. 3

    Schanz J, Steidl C, Fonatsch C, Pfeilstöcker M, Nösslinger T, Tuechler H et al. Coalesced multicentric analysis of 2,351 patients with myelodysplastic syndromes indicates an underestimation of poor-risk cytogenetics of myelodysplastic syndromes in the international prognostic scoring system. J Clin Oncol 2011; 29: 1963–1970.

  4. 4

    Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood 2012; 120: 2454–2465.

  5. 5

    Wang L, Ogawa S, Hangaishi A, Qiao Y, Hosoya N, Nanya Y et al. Molecular characterization of the recurrent unbalanced translocation der(1;7)(q10;p10). Blood 2003; 102: 2597–2604.

  6. 6

    Geraedts JPM, Ottolander GJD, Ploem JE, Muntinghe OG . An identical translocation between chromosome 1 and 7 in three patients with myelofibrosis and myeloid metaplasia. Br J Haematol 1980; 44: 569–575.

  7. 7

    Westman MK, Pedersen-Bjergaard J, Andersen MT, Andersen MK . IDH1 and IDH2 mutations in therapy-related myelodysplastic syndrome and acute myeloid leukemia are associated with a normal karyotype and with der(1;7)(q10;p10). Leukemia 2013; 27: 957–959.

  8. 8

    So CC, Ma ES, Wan TS, Yip SF, Chan LC . Clinicopathological features of unbalanced translocation Der(1;7)(q10;p10) in myeloid neoplasms. Leuk Res 2008; 32: 1000–1001.

  9. 9

    Sanada M, Uike N, Ohyashiki K, Ozawa K, Lili W, Hangaishi A et al. Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms. Leukemia 2007; 21: 992–997.

  10. 10

    Hussain FT, Nguyen EP, Raza S, Knudson R, Pardanani A, Hanson CA et al. Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications. Am J Hematol 2012; 87: 684–686.

  11. 11

    Slovak ML, O'Donnell M, Smith DD, Gaal K . Does MDS with der(1;7)(q10;p10) constitute a distinct risk group? A retrospective single institutional analysis of clinical/pathologic features compared to -7/del(7q) MDS. Cancer Genet Cytogenet 2009; 193: 78–85.

  12. 12

    Gaidzik VI, Teleanu V, Papaemmanuil E, Weber D, Paschka P, Hahn J et al. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features. Leukemia 2016; 30: 2160–2168.

  13. 13

    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.

  14. 14

    Christiansen DH, Andersen MK, Pedersen-Bjergaard J . Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation. Blood 2004; 104: 1474–1481.

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This work was supported by grants from the Priority Academic Program Development of Jiangsu Higher Education Institutions, the Natural Science Foundation of China (81570139, 81370626, 81070416, 81300424, 81400112), the national key research and development program, 2016YFC0902800), the Innovation Capability Development Project of Jiangsu Province (BM2015004), and Jiangsu Province Natural Science Fund (BE2015639).

Author contributions

SC and AS were the principal investigators. TZ, YX, JP, QW, LW and DP performed most of the experiments. HL performed structural model of RUNX1. SC and AS wrote the manuscript.

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Correspondence to A Sun or S Chen.

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The authors declare no conflict of interest.

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Supplementary Information accompanies this paper on the Leukemia website

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