Hematologic Diseases

disease state indication(s)
Acute Myeloid Leukemia (AML)

clinical use
Diagnostic, Monitoring, Prognostic
Mutations in the isocitrate dehydrogenase 2 (IDH2) gene have been reported in 8% to 12% of patients with acute myeloid leukemia (AML), with a higher frequency of 19% among those with normal karyotype. Findings from published reports on the prognostic effects of IDH2 mutations in AML have been inconsistent [1-6]. In patients with relapsed or refractory IDH2-mutated AML, treatment with the IDH2 inhibitor enasidenib is reportedly associated with improved overall response rate and median overall survival compared to historical data [7].

1. Patel JP, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012;366:1079-1089.
2. Abbas S, 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;116:2122-2126.
3. Chotirat S, et al. Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. J Hematol Oncol 2012;5:5.
4. Paschka P, 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 2010:28:3636-3643.
5. Chou WC, et al. The prognostic impact and stability of isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia. 2011;25:246-253.
6. Marcucci G, et al. IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol 2010;28-2348-2355.
7. Stein EM, et al. Enasidenib in mutant-IDH2 relapsed or refractory acute myeloid leukemia. Blood 2017;130:722-731.

methodology/product platform
Polymerase chain reaction (PCR)

specimen type and requirements
Bone marrow: 2-3 mL in EDTA (purple-top) tube.
Peripheral blood: 2-3 mL in EDTA (purple-top) tube.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.

turnaround time
Global (TC & PC): 6 days

cpt code(s)
81403 (x1)

medicare moldx cpt code
Not applicable

regulatory classification
Laboratory developed test (LDT)

ordering option
Global (TC & PC)