Somatic PHF6 mutations in 1760 cases with various myeloid neoplasms

Article metrics


Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Figure 1


  1. 1

    Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64–69.

  2. 2

    Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK et al. Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome. Nat Genet 2002; 32: 661–665.

  3. 3

    Borjeson M, Forssman H, Lehmann O . An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med Scand 1962; 171: 13–21.

  4. 4

    Wieczorek D, Bogershausen N, Beleggia F, Steiner-Haldenstatt S, Pohl E, Li Y et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 2013; 22: 5121–5135.

  5. 5

    Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N et al. PHF6 mutations in T-cell acute lymphoblastic leukemia. Nat Genet 2010; 42: 338–342.

  6. 6

    Van Vlierberghe P, Patel J, Abdel-Wahab O, Lobry C, Hedvat CV, Balbin M et al. PHF6 mutations in adult acute myeloid leukemia. Leukemia 2011; 25: 130–134.

  7. 7

    Patel JP, Gonen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012; 366: 1079–1089.

  8. 8

    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.

  9. 9

    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.

  10. 10

    Kihara R, Nagata Y, Kiyoi H, Kato T, Yamamoto E, Suzuki K et al. Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. Leukemia 2014; 28: 1586–1595.

  11. 11

    Kon A, Shih LY, Minamino M, Sanada M, Shiraishi Y, Nagata Y et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet 2013; 45: 1232–1237.

  12. 12

    Liu Z, Li F, Ruan K, Zhang J, Mei Y, Wu J et al. Structural and functional insights into the human Borjeson-Forssman-Lehmann syndrome-associated protein PHF6. J Biol Chem 2014; 289: 10069–10083.

  13. 13

    Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 2013; 369: 2391–2405.

  14. 14

    Wang J, Leung JW, Gong Z, Feng L, Shi X, Chen J . PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis. J Biol Chem 2013; 288: 3174–3183.

  15. 15

    Harada H, Harada Y, Niimi H, Kyo T, Kimura A, Inaba T . High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood 2004; 103: 2316–2324.

Download references


This work was supported by Grant-in-Aids from the Ministry of Health, Labor and Welfare of Japan and KAKENHI (23249052, 22134006, 21790907, 15km0305018h0101, 16H05338, 26115009, 26890016 and 15H05668) (Kyoto; SO, HM, MS and KY), project for development of innovative research on cancer therapies (p-direct) (Kyoto, SO), The Japan Society for the Promotion of Science (JSPS) through the ‘Funding Program for World-Leading Innovative R&D on Science and Technology’, initiated by the Council for Science and Technology Policy (CSTP) (Kyoto, SO) and NHRI-EX100-10003NI Taiwan (Taipei LYS).

Author contributions

TM, YN, HidM, MS, SO and KY performed study design and interpretation of the data. TM, YN, MS, YusS, AK, TY, ASO, KK and RK performed molecular experiments and data analysis. YuiS, KC, HT and SaM performed bioinformatics. KI, ShM, HirM, TsN, RK, HK, HPK, LYS, ToN, CH, WK and TH collected samples and clinical data, contributed to the interpretation of the data and critically reviewed the draft.

Author information

Correspondence to K Yoshida.

Ethics declarations

Competing interests

TH, CH and WK declare equity ownership of MLL Munich Leukemia Laboratory GmbH.

Additional information

Supplementary Information accompanies this paper on the Leukemia website

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Further reading