Perl AE, Larson RA, Podoltsev NA, Strickland S, Wang ES, Atallah E, et al. Follow-up of patients with R/R FLT3-mutation-positive AML treated with gilteritinib in the phase 3 ADMIRAL trial. Blood. 2022;139:3366–75.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stone RM, Mandrekar SJ, Sanford BL, Laumann K, Geyer S, Bloomfield CD, et al. Midostaurin plus chemotherapy for acute myeloid leukemia with a FLT3 mutation. N Engl J Med. 2017;377:454–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Institute NC. SEER*Explorer: an interactive website for SEER cancer statistics. 1975-2020 [cited 2023 July 3rd]; Surveillance Research Program. https://seer.cancer.gov/statistics-network/explorer/.

Sasaki K, Ravandi F, Kadia TM, DiNardo CD, Short NJ, Borthakur G, et al. De novo acute myeloid leukemia: a population-based study of outcome in the United States based on the Surveillance, Epidemiology, and End Results (SEER) database, 1980 to 2017. Cancer. 2021;127:2049–61.

Article  PubMed  Google Scholar 

Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361:1058–66.

Article  CAS  PubMed  PubMed Central  Google Scholar 

ElNahass YH, Badawy RH, ElRefaey FA, Nooh HA, Ibrahiem D, Nader HA, et al. IDH mutations in AML patients; a higher association with intermediate risk cytogenetics. Asian Pac J Cancer Prev. 2020;21:721–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paschka P, Schlenk RF, Gaidzik VI, Habdank M, Krönke J, Bullinger L, et al. IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. J Clin Oncol. 2010;28:3636–43.

Article  CAS  PubMed  Google Scholar 

Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson A, et al. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368:2059–74.

Article  PubMed  Google Scholar 

Messina M, Piciocchi A, Ottone T, Paolini S, Papayannidis C, Lessi F, et al. Prevalence and prognostic role of IDH mutations in acute myeloid leukemia: results of the GIMEMA AML1516 protocol. Cancers. 2022;14:3012.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Molenaar RJ, Thota S, Nagata Y, Patel B, Clemente M, Przychodzen B, et al. Clinical and biological implications of ancestral and non-ancestral IDH1 and IDH2 mutations in myeloid neoplasms. Leukemia. 2015;29:2134–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009;360:765–73.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jusakul A, Cutcutache I, Yong CH, Lim JQ, Huang MN, Padmanabhan N, et al. Whole-genome and epigenomic landscapes of etiologically distinct subtypes of cholangiocarcinoma. Cancer Discov. 2017;7:1116–35.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Amary MF, Bacsi K, Maggiani F, Damato S, Halai D, Berisha F, et al. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. J Pathol. 2011;224:334–43.

Article  CAS  PubMed  Google Scholar 

Hao Z, Cairns RA, Inoue S, Li WY, Sheng Y, Lemonnier F, et al. Idh1 mutations contribute to the development of T-cell malignancies in genetically engineered mice. Proc Natl Acad Sci USA. 2016;113:1387–92.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Green A, Beer P. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med. 2010;362:369–70.

Article  CAS  PubMed  Google Scholar 

Abdel-Wahab O, Manshouri T, Patel J, Harris K, Yao J, Hedvat C, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res. 2010;70:447–52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rampal R, Ahn J, Abdel-Wahab O, Nahas M, Wang K, Lipson D, et al. Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms. Proc Natl Acad Sci USA. 2014;111:E5401–5410.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vannucchi AM, Lasho TL, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013;27:1861–9.

Article  CAS  PubMed  Google Scholar 

Keys DA, McAlister-Henn L. Subunit structure, expression, and function of NAD(H)-specific isocitrate dehydrogenase in Saccharomyces cerevisiae. J Bacteriol. 1990;172:4280–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xu X, Zhao J, Xu Z, Peng B, Huang Q, Arnold E, et al. Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity. J Biol Chem. 2004;279:33946–57.

Article  CAS  PubMed  Google Scholar 

Shechter I, Dai P, Huo L, Guan G. IDH1 gene transcription is sterol regulated and activated by SREBP-1a and SREBP-2 in human hepatoma HepG2 cells: evidence that IDH1 may regulate lipogenesis in hepatic cells. J Lipid Res. 2003;44:2169–80.

Article  CAS  PubMed  Google Scholar 

Jo SH, Lee SH, Chun HS, Lee SM, Koh HJ, Lee SE, et al. Cellular defense against UVB-induced phototoxicity by cytosolic NADP(+)-dependent isocitrate dehydrogenase. Biochem Biophys Res Commun. 2002;292:542–9.

Article  CAS  PubMed  Google Scholar 

Sazanov LA, Jackson JB. Proton-translocating transhydrogenase and NAD- and NADP-linked isocitrate dehydrogenases operate in a substrate cycle which contributes to fine regulation of the tricarboxylic acid cycle activity in mitochondria. FEBS Lett. 1994;344:109–16.

Article  CAS  PubMed  Google Scholar 

Ward PS, Lu C, Cross JR, Abdel-Wahab O, Levine RL, Schwartz GK, et al. The potential for isocitrate dehydrogenase mutations to produce 2-hydroxyglutarate depends on allele specificity and subcellular compartmentalization. J Biol Chem. 2013;288:3804–15.

Article  CAS  PubMed  Google Scholar 

Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012;366:1079–89.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Green CL, Evans CM, Zhao L, Hills RK, Burnett AK, Linch DC, et al. The prognostic significance of IDH2 mutations in AML depends on the location of the mutation. Blood. 2011;118:409–12.

Article  CAS  PubMed  Google Scholar 

Boissel N, Nibourel O, Renneville A, Huchette P, Dombret H, Preudhomme C. Differential prognosis impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. Blood. 2011;117:3696–7.

Article  CAS  PubMed  Google Scholar 

Zarnegar-Lumley S, Alonzo TA, Gerbing RB, Othus M, Sun Z, Ries RE, et al. Characteristics and prognostic impact of IDH mutations in AML: a COG, SWOG, and ECOG analysis. Blood Adv. 2023;7:5941–53.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005;352:254–66.

Article  CAS  PubMed  Google Scholar 

Issa GC, Bidikian A, Venugopal S, Konopleva M, DiNardo CD, Kadia TM, et al. Clinical outcomes associated with NPM1 mutations in patients with relapsed or refractory AML. Blood Adv. 2023;7:933–42.

Article  CAS  PubMed  Google Scholar 

Becker H, Marcucci G, Maharry K, Radmacher MD, Mrózek K, Margeson D, et al. Favorable prognostic impact of NPM1 mutations in older patients with cytogenetically normal de novo acute myeloid leukemia and associated gene- and microRNA-expression signatures: a Cancer and Leukemia Group B study. J Clin Oncol. 2010;28:596–604.

Article  CAS  PubMed  Google Scholar 

Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM, et al. Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature. 2009;462:739–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gregersen N, Ingerslev J, Rasmussen K. Low molecular weight organic acids in the urine of the newborn. Acta Paediatr Scand. 1977;66:85–89.

Article  CAS  PubMed  Google Scholar 

Akbay EA, Moslehi J, Christensen CL, Saha S, Tchaicha JH, Ramkissoon SH, et al. D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice. Genes Dev. 2014;28:479–90.

Article  CAS  PubMed  PubMed Central