278
Views
3
CrossRef citations to date
0
Altmetric
Letters to the Editor

Controversies about germline RUNX1 missense variants

ORCID Icon & ORCID Icon
Pages 497-499 | Received 17 Aug 2019, Accepted 28 Sep 2019, Published online: 18 Oct 2019

References

  • Prieto-Conde MI, Labrador J, Hermida G, et al. Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder. Leuk Lymphoma. 2019; [4 p.]. DOI:10.1080/10428194.2019.1648801.
  • Sood R, Kamikubo Y, Liu P. Role of RUNX1 in hematological malignancies. Blood. 2017;129(15):2070–2082.
  • Duployez N, Lejeune S, Renneville A, et al. Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists. Expert Rev Hematol. 2016;9(12):1189–1202.
  • Duployez N, Martin J-E, Khalife-Hachem S, et al. Germline RUNX1 intragenic deletion: implications for accurate diagnosis of FPD/AML. HemaSphere. 2019;3(3):e203.
  • Koh CP, Wang CQ, Ng CEL, et al. RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes. Leukemia. 2013;27(9):1793–1802.
  • Garcia JS, Madzo J, Cooper D, et al. Pre-donor evaluation of an HLA matched sibling identifies a novel inherited RUNX1 mutation encoding a missense mutation found outside of the RUNT domain in familial platelet disorder. Blood. 2010;116:2709.
  • Langabeer SE, Gale RE, Rollinson SJ, et al. Mutations of the AML1 gene in acute myeloid leukemia of FAB types M0 and M7. Genes Chromosom Cancer. 2002;34(1):24–32.
  • Goyama S, Schibler J, Cunningham L, et al. Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells. J Clin Invest. 2013;123(9):3876–3888.
  • Huang G, Zhao X, Wang L, et al. The ability of MLL to bind RUNX1 and methylate H3K4 at PU.1 regulatory regions is impaired by MDS/AML-associated RUNX1/AML1 mutations. Blood. 2011;118(25):6544–6552.
  • Tang J-L, Hou H-A, Chen C-Y, et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood. 2009;114(26):5352–5361.
  • Schnittger S, Dicker F, Kern W, et al. RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis. Blood. 2011;117(8):2348–2357.
  • Gaidzik VI, Bullinger L, Schlenk RF, et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol. 2011;29(10):1364–1372.
  • Al-Kzayer LFY, Sakashita K, Al-Jadiry MF, et al. Frequent coexistence of RAS mutations in RUNX1 -mutated acute myeloid leukemia in Arab Asian children: RUNX1 mutations in Arab Asian childhood AML. Pediatr Blood Cancer. 2014;61:1980–1985.
  • Antony-Debré I, Duployez N, Bucci M, et al. Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. Leukemia. 2016;30(4):999–1002.
  • Yoshimi A, Toya T, Nannya Y, et al. Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan. Ann Oncol. 2016;27(5):887–895.
  • Michaud J, Wu F, Osato M, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood. 2002;99(4):1364–1372.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.