Molecular profiling for isocitrate dehydrogenase (IDH) mutations can help identify patients with solid tumors who are eligible to participate in clinical trials

Why you should test for IDH mutations in certain solid tumors

Mutations in IDH1 and IDH2 have been identified in several types of solid tumors, including1-5:

  • Glioma
  • Cholangiocarcinoma
  • Chondrosarcoma

Mutations in IDH1 or IDH2 may be present in up to 25% of patients with cholangiocarcinoma.5,6
Mutations in IDH1 or IDH2 are very common in grade II and grade III glioma.4 They are important molecular markers and are associated with a more favorable prognosis.7,8 They also have diagnostic utility in differentiating a primary glioblastoma from a secondary glioblastoma which has transformed from a lower-grade glioma and may not be as aggressive.2,9

Clinical trials are available for patients who test positive for an IDH mutation.

  1. Krell D, Mulholland P, Frampton AE, Krell J, Stebbing J, Bardella C. IDH mutations in tumorigenesis and their potential role as novel therapeutic targets. Future Oncol. 2013;9(12):1923-1935.
  2. Yan H, Parsons W, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009;360(8):765-773.
  3. Kerr DA, Lopez HU, Deshpande V, et al. Molecular distinction of chondrosarcoma from chondroblastic osteosarcoma through IDH1/2 mutations. Am J Surg Pathol. 2013;37(6):787-795.
  4. Turkalp Z, Karamchandani J, Das S. IDH mutation in glioma: new insights and promises for the future. JAMA Neurol. 2014;71(10):1319-1325.
  5. Borger DR, Tanabe KK, Fan KC, et al. Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. Oncologist. 2012;17(1):72-79.
  6. Grassian AR, Pagliarini R, Chiang DY. Mutations of isocitrate dehydrogenase 1 and 2 in intrahepatic cholangiocarcinoma. Curr Opin Gastroenterol. 2014;30(3):295-302.
  7. Eckel-Passow JE, Lachance DH, Molinaro AM, et al. Glioma groups based on 1p/19q, IDH, and TERT promoter mutations in tumors. N Engl J Med. 2015;372(26):2499-2508.
  8. Sanson M, Marie Y, Paris S, et al. Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas. J Clin Oncol. 2009;27(25):4150-4154.
  9. Hartmann C, Meyer J, Balss J, et al. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas. Acta Neuropathol. 2009;118(4):469-474.

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