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ABSTRACT Unlike the case with acute myeloid leukemia, there is limited information on the prognostic impact of isocitrate dehydrogenase (_IDH_) mutations in myelodysplastic syndromes (MDS).

In the current study of 277 patients with MDS, _IDH_ mutations were detected in 34 (12%) cases: 26 _IDH2_ (all R140Q) and 8 _IDH1_ (6 R132S and 2 R132C). Mutational frequency was 4% (2 of

56) in refractory anemia with ring sideroblasts, 12% (16 of 130) in refractory cytopenia with multilineage dysplasia, 14% (2 of 14) in MDS-unclassifiable, 14% (6 of 42) in refractory anemia

with excess blasts (RAEB)-1 and 23% (8 of 35) in RAEB-2. Normal karyotype was noted in all but one _IDH1_-mutated cases and 13 _IDH2_-mutated cases. Multivariable analysis identified

presence of mutant _IDH1_ (_P_=0.0004; hazard ration 4.0, 95% confidence interval 1.9–8.8), revised International Prognostic Scoring System risk category (_P_<0.0001), and red cell

transfusion need (_P_=0.002) as independent predictors of inferior survival. In a similar multivariable analysis, mutant _IDH1_ was the only variable associated with shortened leukemia-free

survival (_P_=0.001; hazard ration 7.0, 95% confidence interval 2.3–20.8). The presence of _IDH2_R140Q did not affect the overall (_P_=0.54) or leukemia-free (_P_=0.81) survival. The current

study suggests a powerful adverse prognostic effect for mutant _IDH1_ in MDS. Access through your institution Buy or subscribe This is a preview of subscription content, access via your

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* Learn about institutional subscriptions * Read our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS ISOCITRATE DEHYDROGENASE (IDH) 1 AND 2 MUTATIONS PREDICT BETTER

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current study is supported in part by grants from the ‘Myeloproliferative Disorders Foundation, Chicago, IL, USA’ and ‘The Henry J Predolin Foundation for Research in Leukemia, Mayo Clinic,

Rochester, MN, USA’. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA M M Patnaik, T L Lasho, C M Finke, A

Pardanani & A Tefferi * Division of Hematopathology, Department of Laboratory Medicine, Mayo Clinic, Rochester, MN, USA C A Hanson & J M Hodnefield * Division of Cytogenetics,

Department of Laboratory Medicine, Mayo Clinic, Rochester, MN, USA R A Knudson & R P Ketterling Authors * M M Patnaik View author publications You can also search for this author

inPubMed Google Scholar * C A Hanson View author publications You can also search for this author inPubMed Google Scholar * J M Hodnefield View author publications You can also search for

this author inPubMed Google Scholar * T L Lasho View author publications You can also search for this author inPubMed Google Scholar * C M Finke View author publications You can also search

for this author inPubMed Google Scholar * R A Knudson View author publications You can also search for this author inPubMed Google Scholar * R P Ketterling View author publications You can

also search for this author inPubMed Google Scholar * A Pardanani View author publications You can also search for this author inPubMed Google Scholar * A Tefferi View author publications

You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to A Tefferi. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no conflict of

interest. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Patnaik, M., Hanson, C., Hodnefield, J. _et al._ Differential prognostic effect of _IDH1_

versus _IDH2_ mutations in myelodysplastic syndromes: a Mayo Clinic Study of 277 patients. _Leukemia_ 26, 101–105 (2012). https://doi.org/10.1038/leu.2011.298 Download citation * Received:

16 August 2011 * Accepted: 13 September 2011 * Published: 28 October 2011 * Issue Date: January 2012 * DOI: https://doi.org/10.1038/leu.2011.298 SHARE THIS ARTICLE Anyone you share the

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Nature SharedIt content-sharing initiative KEYWORDS * _IDH1_ * _IDH2_ * myelodysplastic * prognosis