Idh1 and idh2 mutations in myelodysplastic syndromes and role in disease progression

Access through your institution Buy or subscribe Recurrent pathogenic mutations in _IDH1_ and _IDH2_ at the conserved amino acid sites _IDH1-R132_, _IDH2-R140_ and _IDH2-R172_ occur in ~20%

of patients with acute myeloid leukemia (AML).1 A recent analysis of AML patients at our institution identified _IDH1/2_ mutations in 20% (_n_=167) of 826 AML patients, with _IDH1/2_

mutations occurring most frequently in the setting of diploid karyotype or other intermediate-risk cytogenetics, particularly trisomy 8 (77 vs 53%, _P_<0.0005). AML patients with _IDH1/2_

mutations were overall less likely to have a diagnosis of therapy-related AML (8 vs 17%, _P_=0.003).2 Compared with their frequency in AML, _IDH1/2_ mutations are less common in

myelodysplastic syndromes (MDS), occurring in ~5% of MDS patients, although an incidence as high as 12% has been reported.3, 4, 5, 6, 7, 8 Although _IDH1/2_ mutations are thought to

represent early ‘driver’ events in leukemogenesis with mutational stability over time, reports of _IDH1/2_ acquisition at the time of leukemic transformation in patients with

myeloproliferative neoplasms and MDS have been described.3, 9, 10 This is a preview of subscription content, access via your institution ACCESS OPTIONS Access through your institution

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CAS  Google Scholar  Download references ACKNOWLEDGEMENTS This work was supported in part by the MD Anderson Cancer Center Support Grant (CCSG) CA016672 and by the generous philanthropic

contributions to MD Anderson’s MDS/AML Moon Shot Program. CDD is also supported by the Jeanne F. Shelby Scholarship Fund which has supported her R. Lee Clark Fellow award. This manuscript

represents original research which has not been previously published and has not been submitted for publication elsewhere. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of

Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA C D DiNardo, E Jabbour, F Ravandi, K Takahashi, N Daver, M Brandt, S Pierce, H Kantarjian & G Garcia-Manero

* Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA M Routbort & K P Patel Authors * C D DiNardo View author publications You can also

search for this author inPubMed Google Scholar * E Jabbour View author publications You can also search for this author inPubMed Google Scholar * F Ravandi View author publications You can

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can also search for this author inPubMed Google Scholar * M Routbort View author publications You can also search for this author inPubMed Google Scholar * K P Patel View author publications

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View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to C D DiNardo. ETHICS DECLARATIONS COMPETING INTERESTS The authors

declare no conflict of interest. ADDITIONAL INFORMATION Supplementary Information accompanies this paper on the Leukemia website SUPPLEMENTARY INFORMATION SUPPLEMENTARY TABLE 1 (XLS 18 KB)

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mutations in myelodysplastic syndromes and role in disease progression. _Leukemia_ 30, 980–984 (2016). https://doi.org/10.1038/leu.2015.211 Download citation * Published: 31 July 2015 *

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