Outcome of Acute Myeloid Leukemia Treatment and Isocitrate Dehydrogenase (IDH) Mutations: A Systematic Review and Meta-Analysis Study
,
Abstract
Background: Acute myeloid leukemia (AML) is a heterogeneous disease with diverse genetic alterations that influence prognosis and treatment outcomes. Isocitrate dehydrogenase (IDH) genes, particularly IDH1 and IDH2, have emerged as important prognostic biomarkers, but the impact of their mutations on survival remains controversial. This systematic review and meta-analysis aimed to evaluate the prognostic significance of IDH mutations in AML, focusing on overall survival (OS) and relapse-free survival (RFS).
Materials and Methods: A comprehensive literature search was conducted in PubMed, Scopus, and Web of Science to identify eligible studies published up to February 2025. Studies reporting associations between IDH mutations (IDH1 and IDH2) and survival outcomes in AML were included. Hazard ratios (HRs) and 95% confidence intervals (CIs) were extracted or derived when necessary.
Results: The analysis included 33 studies (n = 17,576). IDH2 mutations were associated with improved overall survival (HR = 0.70, 95% CI: 0.63–0.78) and relapse-free survival (HR = 0.65, 95% CI: 0.52–0.82), particularly in patients treated with IDH inhibitors. IDH1 mutations were associated with worse overall survival (HR = 1.16, 95% CI: 1.07–1.25) but showed no significant effect on relapse-free survival (HR = 1.03, 95% CI: 0.76–1.41). Subgroup analysis revealed a more favorable prognosis for IDH2 R140 mutations, whereas IDH2 R172 mutations showed heterogeneous outcomes across studies and treatment settings.
Conclusion: IDH mutations have a heterogeneous prognostic impact in AML, with IDH2 mutations generally associated with better outcomes than IDH1 mutations. Larger, well-designed studies with comprehensive molecular profiling are needed to further clarify their prognostic implications.
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3. Abdel-Aziz AK. OXPHOS mediators in acute myeloid leukemia patients: Prognostic biomarkers and therapeutic targets for personalized medicine. World J Surg Oncol. 2024;22(1):298.
4. Al Abri Y, Al Huneini M, Al Zadjali S, et al. IDH1 and IDH2 Gene Mutations in Omani Patients with Acute Myeloid Leukemia: Prognostic Significance and Clinic-pathologic Features. Oman Med J. 2024;39(1):e592.
5. Al-Khatib SM, Ababneh O, Abushukair H, et al. The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study. PLoS One. 2023;18(7):e0289014.
6. Ali T, Usman R, Shah SA, et al. Aberrant HIF1- α and SIX-1 Expression is Associated with Poor Prognosis in Acute Myeloid Leukemia Patients with Isocitrate Dehydrogenase 1 Mutations. Cancer Control. 2024;31:10732748241271714.
7. Alkhatabi HA, Alqahtani W, Alsolami R, et al. Application of Newly Customized Myeloid NGS Panel in the Diagnosis of Myeloid Malignancies. Int J Gen Med. 2024;17:37-48.
8. Ambinder A, Smith M, Tsai HL, et al. Nonmyeloablative Allogeneic Transplantation With Post-Transplant Cyclophosphamide for Acute Myeloid Leukemia With IDH Mutations: A Single Center Experience. Clin Lymphoma Myeloma Leuk. 2022;22(4):260-9.
9. Atef M, Shafik NF, N HAH, et al. Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients. Asian Pac J Cancer Prev. 2023;24(9):3169-82.
10. Bouligny IM, Murray G, Doyel M, et al. Venetoclax with decitabine or azacitidine in the first-line treatment of acute myeloid leukemia. EJHaem. 2023;4(2):381-92.
11. Brunner AM, Neuberg DS, Wander SA, et al. Isocitrate dehydrogenase 1 and 2 mutations, 2-hydroxyglutarate levels, and response to standard chemotherapy for patients with newly diagnosed acute myeloid leukemia. Cancer. 2019;125(4):541-9.
12. Cappelli LV, Meggendorfer M, Baer C, et al. Indeterminate and oncogenic potential: CHIP vs CHOP mutations in AML with NPM1 alteration. Leukemia. 2022;36(2):394-402.
13. Cocciardi S, Saadati M, Weiß N, et al. Impact of myelodysplasia-related and additional gene mutations in intensively treated patients with NPM1-mutated AML. Hemasphere. 2025;9(1):e70060.
14. Comont T, Nicolau-Travers ML, Bertoli S, et al. MAIT cells numbers and frequencies in patients with acute myeloid leukemia at diagnosis: association with cytogenetic profile and gene mutations. Cancer Immunol Immunother. 2022;71(4):875-87.
15. Corley EM, Mustafa Ali MK, Alharthy H, et al. Impact of IDH1 c.315C>T SNP on Outcomes in Acute Myeloid Leukemia: A Propensity Score-Adjusted Cohort Study. Front Oncol. 2022;12:804961.
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17. Du D, Liu C, Qin M, et al. Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma. Acta Pharm Sin B. 2022;12(2):558-80.
18. Fathi AT, Kim HT, Soiffer RJ, et al. Multicenter Phase I Trial of Ivosidenib as Maintenance Treatment Following Allogeneic Hematopoietic Cell Transplantation for IDH1-Mutated Acute Myeloid Leukemia. Clin Cancer Res. 2023;29(11):2034-42.
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21. Damm F, Heuser M, Morgan M, et al. Integrative prognostic risk score in acute myeloid leukemia with normal karyotype. Blood. 2011;117(17):4561-8.
22. Davis AR, Canady BC, Aggarwal N, et al. Clinicopathologic Features of IDH2 R172-Mutated Myeloid Neoplasms. Am J Clin Pathol. 2023;160(1):89-97.
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24. Guan L, Gao L, Wang L, et al. The Frequency and clinical significance of IDH1 mutations in Chinese acute myeloid leukemia patients. PLoS One. 2013;8(12):e83334.
25. Gui G, Ravindra N, Hegde PS, et al. Measurable residual mutated IDH1 before allogeneic transplant for acute myeloid leukemia. Bone Marrow Transplant. 2025;60(2):154-160.
26. Huang S, Chen P, Wang L, et al. Next-generation sequencing reveals relapse and leukemia-free survival risks in newly diagnosed acute myeloid leukemia treated with CAG regimen combined with decitabine. Cancer Pathog Ther. 2023;2(2):112-20.
27. Kang D, Jung J, Park S, et al. Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes. J Clin Med. 2022;11(9):2378.
28. Kunadt D, Stasik S, Metzeler KH, et al. Impact of IDH1 and IDH2 mutational subgroups in AML patients after allogeneic stem cell transplantation.J Hematol Oncol. 2022;15(1):126.
29. Lachowiez CA, Reville PK, Kantarjian H, et al. Contemporary outcomes in IDH-mutated acute myeloid leukemia: The impact of co-occurring NPM1 mutations and venetoclax-based treatment. Am J Hematol. 2022;97(11):1443-52.
30. Li F, Li N, Wang A, et al. Correlation Analysis and Prognostic Impacts of Biological Characteristics in Elderly Patients with Acute Myeloid Leukemia. Clin Interv Aging. 2022;17:1187-97.
31. Middeke JM, Metzeler KH, Röllig C, et al. Differential impact of IDH1/2 mutational subclasses on outcome in adult AML: results from a large multicenter study. Blood Adv. 2022;6(5):1394-405.
32. Österroos A, Björklund M, Eriksson A, et al. Integrated transcriptomic and genomic analysis improves prediction of complete remission and survival in elderly patients with acute myeloid leukemia. Blood Cancer J. 2020;10(6):67.
33. Pollyea DA, DiNardo CD, Arellano ML, et al. Impact of Venetoclax and Azacitidine in Treatment-Naïve Patients with Acute Myeloid Leukemia and IDH1/2 Mutations. Clin Cancer Res. 2022;28(13):2753-61.
34. Pratz KW, Jonas BA, Pullarkat V, et al. Long-term follow-up of VIALE-A: Venetoclax and azacitidine in chemotherapy-ineligible untreated acute myeloid leukemia. Am J Hematol. 2024;99(4):615-24.
35. Saul EE, Patel PM, Tomita-Barber JF, et al. Clinical Outcomes in Acute Myeloid Leukemia (AML) Patients (Pts) Carrying Isocitrate Dehydrogenase (IDH1-2) Mutations Undergoing Allogeneic Hematopoietic Stem Cell Transplantation (HCT). Transplant Cell Ther. 2021;27(3):S147-8.
36. Shen J, Wen X, Xing X, et al. Endogenous retroviruses Suppressyn and Syncytin-2 as innovative prognostic biomarkers in Acute Myeloid Leukemia. Front Cell Infect Microbiol. 2024;13:1339673.
37. Shi K, Li D, Peng BH, et al. The high-risk model associated with SYTL4 predicts poor prognosis and correlates with immune infiltration in AML. Biochem Biophys Rep. 2024;41:101859.
38. Smith CC, Levis MJ, Perl AE, et al. Molecular profile of FLT3-mutated relapsed/refractory patients with AML in the phase 3 ADMIRAL study of gilteritinib. Blood Adv. 2022;6(7):2144-55.
39. Stiff A, Fornerod M, Kain BN, et al. Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia. Nat Genet. 2024;56(11):2434-46.
40. Tatarian J, Tupper N, Li P, et al. Morphologic, immunophenotypic, molecular genetic, and clinical characterization in patients with SRSF2-mutated acute myeloid leukemia. Am J Clin Pathol. 2023;160(5):490-499.
41. Wang J, Gao N, Wang X, et al. Prognostic Factors in Acute Myeloid Leukemia with t(8;21)/AML1-ETO: Strategies to Define High-Risk Patients. Indian J Hematol Blood Transfus. 2022;38(4):631-7.
42. Willander K, Falk IJ, Chaireti R, et al. Mutations in the isocitrate dehydrogenase 2 gene and IDH1 SNP 105C > T have a prognostic value in acute myeloid leukemia. Biomark Res. 2014;2:18.
43. Wu Q, Zhang Y, Yuan B, et al. Influence of genetic co-mutation on chemotherapeutic outcome in NPM1-mutated and FLT3-ITD wild-type AML patients. Cancer Med. 2024;13(15):e70102.
44. Zhang X, Shi J, Zhang J, et al. Clinical and biological implications of IDH1/2 in acute myeloid leukemia with DNMT3A(mut). Cancer Manag Res. 2018;10:2457-66.
45. Gangat N, McCullough K, Abdelmagid M, et al. Molecular predictors of response and survival following IDH1/2 inhibitor monotherapy in acute myeloid leukemia. Haematologica. 2024;109(1):187-292.
46. Giudice V, Serio B, Errichiello S, et al. Subclones with variants of uncertain clinical significance might contribute to ineffective hemopoiesis and leukemia predisposition. Eur J Haematol. 2023;111(5):729-41.
47. Hosono N, Chi S, Yamauchi T, et al. Clinical utility of genomic profiling of AML using paraffin-embedded bone marrow clots: HM-SCREEN-Japan 01. Cancer Sci. 2023;114(5):2098-2108.
48. Jain AG, Ball S, Aguirre L, et al. Patterns of lower risk myelodysplastic syndrome progression: factors predicting progression to high-risk myelodysplastic syndrome and acute myeloid leukemia. Haematologica. 2024;109(7):2157-64.
49. Begna KH, Kittur J, Gangat N, et al. European LeukemiaNet-defined primary refractory acute myeloid leukemia: the value of allogeneic hematopoietic stem cell transplant and overall response. Blood Cancer J. 2022;12(1):7.
50. Castaño-Díez S, López-Guerra M, Bosch-Castañeda C, et al. Real-World Data on Chronic Myelomonocytic Leukemia: Clinical and Molecular Characteristics, Treatment, Emerging Drugs, and Patient Outcomes. Cancers (Basel). 2022;14(17):4107.
51. Qin H, Xu R, Yang Y. Acute myeloid leukemia treatment outcomes with isocitrate dehydrogenase mutations: A systematic review and meta-analysis. Medicine (Baltimore). 2024;103(49):e40565.
52. Qin Y, Shen K, Liu T, et al. Prognostic value of IDH2R140 and IDH2R172 mutations in patients with acute myeloid leukemia: a systematic review and meta-analysis. BMC Cancer. 2023;23(1):527.
53. Chen X, Zhao Y, Li Q, et al. Single-Center Retrospective Clinical Evaluation of Venetoclax Combined with HMAs and Half-Dose CAG for Unfit or Refractory/Relapsed AML. Onco Targets Ther. 2023;16:409-19.
54. Chen Y, Xie Y, Fang Y, et al. Correlation of blood cell counts with mutant subtypes and impact prognosis in acute myeloid leukemia patients with FLT3 mutations. Hematology. 2023;28(1):2172296.
55. Chang S, Yim S, Park H. The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism. Exp Mol Med. 2019;51(6):1-17.
56. Garrett-Bakelman FE, Melnick AM. Mutant IDH: a targetable driver of leukemic phenotypes linking metabolism, epigenetics and transcriptional regulation. Epigenomics. 2016;8(7):945-57.
57. Bogdanovic E. IDH1, lipid metabolism and cancer: Shedding new light on old ideas. Biochim Biophys Acta. 2015;1850(9):1781-5.
58. Capper D, Simon M, Langhans CD, et al. 2-Hydroxyglutarate concentration in serum from patients with gliomas does not correlate with IDH1/2 mutation status or tumor size. Int J Cancer. 2012;131(3):766-8.
59. Intlekofer AM, Shih AH, Wang B, et al. Acquired resistance to IDH inhibition through trans or cis dimer-interface mutations. Nature. 2018;559(7712):125-9.
60. Kattih B, Shirvani A, Klement P, et al. IDH1/2 mutations in acute myeloid leukemia patients and risk of coronary artery disease and cardiac dysfunction-a retrospective propensity score analysis. Leukemia. 2021;35(5):1301-16.
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65. Zarnegar-Lumley S, Alonzo TA, Gerbing RB, et al. Characteristics and prognostic impact of IDH mutations in AML: a COG, SWOG, and ECOG analysis. Blood Adv. 2023;7(19):5941-53.
2. Abbas S, Lugthart S, Kavelaars FG, et al. Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value. Blood. 2010;116(12):2122-6.
3. Abdel-Aziz AK. OXPHOS mediators in acute myeloid leukemia patients: Prognostic biomarkers and therapeutic targets for personalized medicine. World J Surg Oncol. 2024;22(1):298.
4. Al Abri Y, Al Huneini M, Al Zadjali S, et al. IDH1 and IDH2 Gene Mutations in Omani Patients with Acute Myeloid Leukemia: Prognostic Significance and Clinic-pathologic Features. Oman Med J. 2024;39(1):e592.
5. Al-Khatib SM, Ababneh O, Abushukair H, et al. The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study. PLoS One. 2023;18(7):e0289014.
6. Ali T, Usman R, Shah SA, et al. Aberrant HIF1- α and SIX-1 Expression is Associated with Poor Prognosis in Acute Myeloid Leukemia Patients with Isocitrate Dehydrogenase 1 Mutations. Cancer Control. 2024;31:10732748241271714.
7. Alkhatabi HA, Alqahtani W, Alsolami R, et al. Application of Newly Customized Myeloid NGS Panel in the Diagnosis of Myeloid Malignancies. Int J Gen Med. 2024;17:37-48.
8. Ambinder A, Smith M, Tsai HL, et al. Nonmyeloablative Allogeneic Transplantation With Post-Transplant Cyclophosphamide for Acute Myeloid Leukemia With IDH Mutations: A Single Center Experience. Clin Lymphoma Myeloma Leuk. 2022;22(4):260-9.
9. Atef M, Shafik NF, N HAH, et al. Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients. Asian Pac J Cancer Prev. 2023;24(9):3169-82.
10. Bouligny IM, Murray G, Doyel M, et al. Venetoclax with decitabine or azacitidine in the first-line treatment of acute myeloid leukemia. EJHaem. 2023;4(2):381-92.
11. Brunner AM, Neuberg DS, Wander SA, et al. Isocitrate dehydrogenase 1 and 2 mutations, 2-hydroxyglutarate levels, and response to standard chemotherapy for patients with newly diagnosed acute myeloid leukemia. Cancer. 2019;125(4):541-9.
12. Cappelli LV, Meggendorfer M, Baer C, et al. Indeterminate and oncogenic potential: CHIP vs CHOP mutations in AML with NPM1 alteration. Leukemia. 2022;36(2):394-402.
13. Cocciardi S, Saadati M, Weiß N, et al. Impact of myelodysplasia-related and additional gene mutations in intensively treated patients with NPM1-mutated AML. Hemasphere. 2025;9(1):e70060.
14. Comont T, Nicolau-Travers ML, Bertoli S, et al. MAIT cells numbers and frequencies in patients with acute myeloid leukemia at diagnosis: association with cytogenetic profile and gene mutations. Cancer Immunol Immunother. 2022;71(4):875-87.
15. Corley EM, Mustafa Ali MK, Alharthy H, et al. Impact of IDH1 c.315C>T SNP on Outcomes in Acute Myeloid Leukemia: A Propensity Score-Adjusted Cohort Study. Front Oncol. 2022;12:804961.
16. DiNardo CD, Roboz GJ, Watts JM, et al. Final phase 1 substudy results of ivosidenib for patients with mutant IDH1 relapsed/refractory myelodysplastic syndrome. Blood Adv. 2024;8(15):4209-20.
17. Du D, Liu C, Qin M, et al. Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma. Acta Pharm Sin B. 2022;12(2):558-80.
18. Fathi AT, Kim HT, Soiffer RJ, et al. Multicenter Phase I Trial of Ivosidenib as Maintenance Treatment Following Allogeneic Hematopoietic Cell Transplantation for IDH1-Mutated Acute Myeloid Leukemia. Clin Cancer Res. 2023;29(11):2034-42.
19. Badar T, Nanaa A, Atallah E, et al. Prognostic impact of 'multi-hit' versus 'single-hit' TP53 alteration in patients with acute myeloid leukemia: results from the Consortium on Myeloid Malignancies and Neoplastic Diseases. Haematologica. 2024;109(11):3533-42.
20. Chen X, Tian C, Hao Z, et al. The impact of DNMT3A variant allele frequency and two different comutations on patients with de novo cytogenetically normal acute myeloid leukemia. Cancer Med. 2023;12(9):10340-50.
21. Damm F, Heuser M, Morgan M, et al. Integrative prognostic risk score in acute myeloid leukemia with normal karyotype. Blood. 2011;117(17):4561-8.
22. Davis AR, Canady BC, Aggarwal N, et al. Clinicopathologic Features of IDH2 R172-Mutated Myeloid Neoplasms. Am J Clin Pathol. 2023;160(1):89-97.
23. DiNardo CD, Ravandi F, Agresta S, et al. Characteristics, clinical outcome, and prognostic significance of IDH mutations in AML. Am J Hematol. 2015;90(8):732-6.
24. Guan L, Gao L, Wang L, et al. The Frequency and clinical significance of IDH1 mutations in Chinese acute myeloid leukemia patients. PLoS One. 2013;8(12):e83334.
25. Gui G, Ravindra N, Hegde PS, et al. Measurable residual mutated IDH1 before allogeneic transplant for acute myeloid leukemia. Bone Marrow Transplant. 2025;60(2):154-160.
26. Huang S, Chen P, Wang L, et al. Next-generation sequencing reveals relapse and leukemia-free survival risks in newly diagnosed acute myeloid leukemia treated with CAG regimen combined with decitabine. Cancer Pathog Ther. 2023;2(2):112-20.
27. Kang D, Jung J, Park S, et al. Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes. J Clin Med. 2022;11(9):2378.
28. Kunadt D, Stasik S, Metzeler KH, et al. Impact of IDH1 and IDH2 mutational subgroups in AML patients after allogeneic stem cell transplantation.J Hematol Oncol. 2022;15(1):126.
29. Lachowiez CA, Reville PK, Kantarjian H, et al. Contemporary outcomes in IDH-mutated acute myeloid leukemia: The impact of co-occurring NPM1 mutations and venetoclax-based treatment. Am J Hematol. 2022;97(11):1443-52.
30. Li F, Li N, Wang A, et al. Correlation Analysis and Prognostic Impacts of Biological Characteristics in Elderly Patients with Acute Myeloid Leukemia. Clin Interv Aging. 2022;17:1187-97.
31. Middeke JM, Metzeler KH, Röllig C, et al. Differential impact of IDH1/2 mutational subclasses on outcome in adult AML: results from a large multicenter study. Blood Adv. 2022;6(5):1394-405.
32. Österroos A, Björklund M, Eriksson A, et al. Integrated transcriptomic and genomic analysis improves prediction of complete remission and survival in elderly patients with acute myeloid leukemia. Blood Cancer J. 2020;10(6):67.
33. Pollyea DA, DiNardo CD, Arellano ML, et al. Impact of Venetoclax and Azacitidine in Treatment-Naïve Patients with Acute Myeloid Leukemia and IDH1/2 Mutations. Clin Cancer Res. 2022;28(13):2753-61.
34. Pratz KW, Jonas BA, Pullarkat V, et al. Long-term follow-up of VIALE-A: Venetoclax and azacitidine in chemotherapy-ineligible untreated acute myeloid leukemia. Am J Hematol. 2024;99(4):615-24.
35. Saul EE, Patel PM, Tomita-Barber JF, et al. Clinical Outcomes in Acute Myeloid Leukemia (AML) Patients (Pts) Carrying Isocitrate Dehydrogenase (IDH1-2) Mutations Undergoing Allogeneic Hematopoietic Stem Cell Transplantation (HCT). Transplant Cell Ther. 2021;27(3):S147-8.
36. Shen J, Wen X, Xing X, et al. Endogenous retroviruses Suppressyn and Syncytin-2 as innovative prognostic biomarkers in Acute Myeloid Leukemia. Front Cell Infect Microbiol. 2024;13:1339673.
37. Shi K, Li D, Peng BH, et al. The high-risk model associated with SYTL4 predicts poor prognosis and correlates with immune infiltration in AML. Biochem Biophys Rep. 2024;41:101859.
38. Smith CC, Levis MJ, Perl AE, et al. Molecular profile of FLT3-mutated relapsed/refractory patients with AML in the phase 3 ADMIRAL study of gilteritinib. Blood Adv. 2022;6(7):2144-55.
39. Stiff A, Fornerod M, Kain BN, et al. Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia. Nat Genet. 2024;56(11):2434-46.
40. Tatarian J, Tupper N, Li P, et al. Morphologic, immunophenotypic, molecular genetic, and clinical characterization in patients with SRSF2-mutated acute myeloid leukemia. Am J Clin Pathol. 2023;160(5):490-499.
41. Wang J, Gao N, Wang X, et al. Prognostic Factors in Acute Myeloid Leukemia with t(8;21)/AML1-ETO: Strategies to Define High-Risk Patients. Indian J Hematol Blood Transfus. 2022;38(4):631-7.
42. Willander K, Falk IJ, Chaireti R, et al. Mutations in the isocitrate dehydrogenase 2 gene and IDH1 SNP 105C > T have a prognostic value in acute myeloid leukemia. Biomark Res. 2014;2:18.
43. Wu Q, Zhang Y, Yuan B, et al. Influence of genetic co-mutation on chemotherapeutic outcome in NPM1-mutated and FLT3-ITD wild-type AML patients. Cancer Med. 2024;13(15):e70102.
44. Zhang X, Shi J, Zhang J, et al. Clinical and biological implications of IDH1/2 in acute myeloid leukemia with DNMT3A(mut). Cancer Manag Res. 2018;10:2457-66.
45. Gangat N, McCullough K, Abdelmagid M, et al. Molecular predictors of response and survival following IDH1/2 inhibitor monotherapy in acute myeloid leukemia. Haematologica. 2024;109(1):187-292.
46. Giudice V, Serio B, Errichiello S, et al. Subclones with variants of uncertain clinical significance might contribute to ineffective hemopoiesis and leukemia predisposition. Eur J Haematol. 2023;111(5):729-41.
47. Hosono N, Chi S, Yamauchi T, et al. Clinical utility of genomic profiling of AML using paraffin-embedded bone marrow clots: HM-SCREEN-Japan 01. Cancer Sci. 2023;114(5):2098-2108.
48. Jain AG, Ball S, Aguirre L, et al. Patterns of lower risk myelodysplastic syndrome progression: factors predicting progression to high-risk myelodysplastic syndrome and acute myeloid leukemia. Haematologica. 2024;109(7):2157-64.
49. Begna KH, Kittur J, Gangat N, et al. European LeukemiaNet-defined primary refractory acute myeloid leukemia: the value of allogeneic hematopoietic stem cell transplant and overall response. Blood Cancer J. 2022;12(1):7.
50. Castaño-Díez S, López-Guerra M, Bosch-Castañeda C, et al. Real-World Data on Chronic Myelomonocytic Leukemia: Clinical and Molecular Characteristics, Treatment, Emerging Drugs, and Patient Outcomes. Cancers (Basel). 2022;14(17):4107.
51. Qin H, Xu R, Yang Y. Acute myeloid leukemia treatment outcomes with isocitrate dehydrogenase mutations: A systematic review and meta-analysis. Medicine (Baltimore). 2024;103(49):e40565.
52. Qin Y, Shen K, Liu T, et al. Prognostic value of IDH2R140 and IDH2R172 mutations in patients with acute myeloid leukemia: a systematic review and meta-analysis. BMC Cancer. 2023;23(1):527.
53. Chen X, Zhao Y, Li Q, et al. Single-Center Retrospective Clinical Evaluation of Venetoclax Combined with HMAs and Half-Dose CAG for Unfit or Refractory/Relapsed AML. Onco Targets Ther. 2023;16:409-19.
54. Chen Y, Xie Y, Fang Y, et al. Correlation of blood cell counts with mutant subtypes and impact prognosis in acute myeloid leukemia patients with FLT3 mutations. Hematology. 2023;28(1):2172296.
55. Chang S, Yim S, Park H. The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism. Exp Mol Med. 2019;51(6):1-17.
56. Garrett-Bakelman FE, Melnick AM. Mutant IDH: a targetable driver of leukemic phenotypes linking metabolism, epigenetics and transcriptional regulation. Epigenomics. 2016;8(7):945-57.
57. Bogdanovic E. IDH1, lipid metabolism and cancer: Shedding new light on old ideas. Biochim Biophys Acta. 2015;1850(9):1781-5.
58. Capper D, Simon M, Langhans CD, et al. 2-Hydroxyglutarate concentration in serum from patients with gliomas does not correlate with IDH1/2 mutation status or tumor size. Int J Cancer. 2012;131(3):766-8.
59. Intlekofer AM, Shih AH, Wang B, et al. Acquired resistance to IDH inhibition through trans or cis dimer-interface mutations. Nature. 2018;559(7712):125-9.
60. Kattih B, Shirvani A, Klement P, et al. IDH1/2 mutations in acute myeloid leukemia patients and risk of coronary artery disease and cardiac dysfunction-a retrospective propensity score analysis. Leukemia. 2021;35(5):1301-16.
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| Files | ||
| Issue | Vol 20 No 2 (2026) | |
| Section | Review Article(s) | |
| Keywords | ||
| Acute myeloid leukemia; Isocitrate Dehydrogenase (IDH) mutations; Prognosis; Survival | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Ameli F, Abdollahi A, Salarvand S, Ghasemi D. Outcome of Acute Myeloid Leukemia Treatment and Isocitrate Dehydrogenase (IDH) Mutations: A Systematic Review and Meta-Analysis Study. Int J Hematol Oncol Stem Cell Res. 2026;20(2):174-188.
