Case Presentation: IDH2-Mutated AML


Courtney D. DiNardo, MD, MSCE:In November 2017, a 65-year-old woman was referred to my clinic for a concern of a new diagnosis of AML. And so, on presentation to me, she did have a diagnosis of AML confirmed. She had diploid cytogenetics and a molecular panel was performed. And on that panel, she had anIDH2mutation, aR140mutation, as well asDNMT3AandRUNX1mutations.

She was 65 years old and induction therapy was initiated for her, so she received standard 7+3 chemotherapy. And this was complicated by fairly mild mucositis, a neutropenic fever or two. Overall, she tolerated it well and recovered in a remission, thankfully, and she went on to receive 2 high-dose cytarabine consolidation therapies. And after recovery from her induction therapy, her counts normalized, she was doing well, and she went on to receive 2 additional courses of high-dose cytarabine consolidation.

In May 2018, about 6 months or so after her initial diagnosis of AML and remission thereafter, her counts started to drop, she had some cytopenias, and she had some nonspecific aches and fatigue. A repeat bone marrow was done and it did identify, unfortunately, relapsed disease with diploid cytogenetics and similar molecular phenotypes—so, theIDH2,DNMT3A, andRUNX1mutations again identified.

One of the most important things to decide when you have a new patient with AML is the treatment regimen. So, treatment is typically either intensive therapy or nonintensive chemotherapy options. And in a 65-year-old woman, she could be appropriate for either. And so, you want to base that decision on patient-specific characteristics such as their fitness, other medical comorbidities, as well as leukemia characteristics, things like their genomic profile and hematologic disorders, secondary AML, things of that sort. She was fit, and so she received a more standard intensive chemotherapy regimen.

Transcript edited for clarity.

Case: A 65-Year-Old Woman withIDH2-Mutated AML

November 2017

  • A 65-year-old female was diagnosed with AML, normal cytogenetics;IDH2R140,RUNX1,andDNMT3Amutations
  • 7+3 induction chemotherapy was initiated
  • Her treatment course was complicated by mucositis and febrile neutropenia
  • After resolution of her complications, she received 2 cycles of intermediate-dose cytarabine consolidation

May 2018

  • Now, 6 months after her initial diagnosis, she presents with fatigue, aches, and gum bleeding
  • Labs: leukocytosis, 20% circulating myeloblasts, ANC 450 cells/mL
  • Bone marrow biopsy: hypercellular 80% blast, normal cytogenetics
  • NGS: mutations inIDH2,RUNX1,andDNMT3A
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