470
Views
7
CrossRef citations to date
0
Altmetric
Letter to the Editor

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

, , , , , , , & ORCID Icon show all
Pages 1337-1339 | Received 18 Jun 2018, Accepted 04 Sep 2018, Published online: 08 Nov 2018

References

  • Polprasert C, Schulze I, Sekeres MA, et al. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell. 2015;27:658–670.
  • Jerez A, Gondek LP, Jankowska AM, et al. Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited. Jco. 2012;30:1343–1349.
  • Berger G, van den Berg E, Sikkema-Raddatz B, et al. Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation. Leukemia. 2017;31:520–522.
  • Jagadeesh KA, Wenger AM, Berger MJ, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48:1581–1586.
  • Bendl J, Musil M, Stourac J, et al. PredictSNP2: a unified platform for accurately evaluating SNP effects by exploiting the different characteristics of variants in distinct genomicr. PLoS Comput Biol. 2016;12:e1004962.
  • Gussow AB, Petrovski S, Wang Q, et al. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. Genome Biol. 2016;17:9.
  • Goldin LR, Kristinsson SY, Liang XS, et al. Familial aggregation of acute myeloid leukemia and myelodysplastic syndromes. Jco. 2012;30:179–183.
  • International Agency for Research on Cancer, World Health Organization. WHO classification of tumours of haematopoietic and lymphoid tissues. Northwestern University: International Agency for Research on Cancer; 2008.
  • Sperling AS, Gibson CJ, Ebert BL. The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia. Nat Rev Cancer. 2017;17:5–19.
  • Kennedy JA, Ebert BL. Clinical implications of genetic mutations in myelodysplastic syndrome. Jco. 2017;35:968–974.
  • Jiang Y, Zhu Y, Qiu W, et al. Structural and functional analyses of human DDX41 DEAD domain. Protein Cell. 2017;8:72–76.
  • Cheah JJC, Hahn CN, Hiwase DK, et al. Myeloid neoplasms with germline DDX41 mutation. Int J Hematol. 2017;106:163–174.
  • Lewinsohn M, Brown AL, Weinel LM, et al. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood. 2016;127:1017–1023.
  • Li R, Sobreira N, Witmer PD, et al. Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. Haematologica. 2016;101:e228–e231.

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.