Advanced search
Publication Cover
Leukemia & Lymphoma Volume 58, 2017 - Issue 7
Submit an article Journal homepage
446
Views
12
CrossRef citations to date
0
Altmetric
Original Articles: Research

Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS)

Iván MartínDepartment of Hematology, University Hospital La Fe, Valencia, Spain; ;Department of Genomics, University Hospital La Fe, Valencia, Spain; Correspondence[email protected]
,
Esperanza SuchDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
,
Blanca NavarroDepartment of Hematology, University Hospital Clinic, Valencia, Spain;
,
Ana VicenteDepartment of Hematology, Hospital de la Ribera, Alzira, Spain;
,
María López-PavíaDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
,
Mariam IbáñezDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
,
Mar TormoDepartment of Hematology, University Hospital Clinic, Valencia, Spain;
,
Eva VillamónDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
,
Inés Gómez-SeguíDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
,
Irene LunaDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
,
Silvestre OltraDepartment of Genetics, University Hospital La Fe, Valencia, Spain
,
Laia PedrolaDepartment of Genomics, University Hospital La Fe, Valencia, Spain;
,
Miguel Angel SanzDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
,
Jose CerveraDepartment of Hematology, University Hospital La Fe, Valencia, Spain; ;Department of Genetics, University Hospital La Fe, Valencia, Spain
&
Guillermo SanzDepartment of Hematology, University Hospital La Fe, Valencia, Spain;
show all
Pages 1686-1693 | Received 24 May 2016, Accepted 03 Oct 2016, Published online: 24 Oct 2016

References

  • Jädersten M, Hellström-Lindberg E. Myelodysplastic syndromes: biology and treatment. J Intern Med. 2009;265:307–328.
  • Bennett JM, Catovsky D, Daniel MT. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol. 1982;51:189–199.
  • Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114:937–951.
  • Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391--2405.
  • Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365:1384–1395.
  • Yoshida K, Sanada M, Shiraishi, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478:64–69.
  • Visconte V, Rogers HJ, Singh J, et al. SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood. 2012;120:3173–3186.
  • Cazzola M, Della Porta MG, Malcovati L. The genetic basis of myelodysplasia and its clinical relevance. Blood. 2013;122:4021–4034.
  • Malcovati L, Papaemmanuil E, Bowen DT, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118:6239–6246.
  • Makishima H, Visconte V, Sakaguchi H, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. 2012;119:3203–3210.
  • Damm F, Kosmider O, Gelsi-Boyer V, et al. Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. Blood. 2012;119:3211–3218.
  • Bejar R, Stevenson KE, Caughey BA, et al. Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes. J Clin Oncol. 2012;30:3376–3382.
  • Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28:241–247.
  • Gill H, Leung AY, Kwong YL. Molecular and cellular mechanisms of myelodysplastic syndrome: implications on targeted therapy. Int J Mol Sci. 2016;17:440.
  • Thol F, Winschel C, Lüdeking A, et al. Rare occurrence of DNMT3A mutations in myelodysplastic syndromes. Haematologica. 2011;96:1870–1873.
  • Walter MJ, Ding L, Shen D, et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia. 2011;25:1153–1158.
  • Lin CC, Hou HA, Chou WC, et al. SF3B1 mutations in patients with myelodysplastic syndromes: the mutation is stable during disease evolution. Am J Hematol. 2014;89:E109–E115.
  • Malcovati L, Karimi M, Papaemmanuil E, et al. SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood. 2015;126:233–241.
  • Traina F, Visconte V, Elson P, et al. Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms. Leukemia. 2014;28:78–87.
  • Metzeler KH, Walker A, Geyer S, et al. DNMT3A mutations and response to the hypomethylating agent decitabine in acute myeloid leukemia. Leukemia. 2012;26:1106–1107.
  • Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079–2088.
  • Schanz J, Tüchler H, Solé F, et al. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. J Clin Oncol. 2012;30:820–829.
  • Shaffer LG, McGowan-Jordan J, Schmid M, editors. ISCN 2013: an international system for human cytogenetic nomenclature (2013). Basel: Karger; 2013.
  • Patnaik MM, Lasho TL, Hodnefield JM, et al. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. Blood. 2012;119:569–572.
  • Thol F, Damm F, Lüdeking A, et al. Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia. J Clin Oncol. 2011;29:2889–2896.
  • Cazzola M, Rossi M, Malcovati L. Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative. Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms. Blood. 2013;121:260–269.
  • Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363:2424–2433.
  • Hou HA, Kuo YY, Liu CY, et al. DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications. Blood. 2012;119:559–568.

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.