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[Coexisting Mutations in IDH1/2-Mutated Acute Myeloid Leukemia]
Zhu-Xia Jia1, Hong-Ying Chao2, Jie Liu1
1Department of Hematology, Changzhou Municipal Second People's Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi
|October 15, 2019
Summary
Over 95% of acute myeloid leukemia (AML) patients with IDH mutations have other gene mutations. The number and type of these coexisting mutations impact AML clinical features and remission rates.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy.
- Isocitrate dehydrogenase (IDH) mutations are common in AML and influence disease pathogenesis.
- Understanding coexisting mutations in IDH-mutated AML is crucial for prognostication.
Purpose of the Study:
- To investigate the spectrum of coexisting mutations in IDH-mutated AML.
- To explore the relationship between these coexisting mutations and clinical parameters.
Main Methods:
- Screening of IDH1/2 exon 4 mutations using genome DNA-PCR and Sanger sequencing.
- Detection of 51 targeted gene mutations in IDH1/2-mutated patients via high-throughput DNA sequencing and Sanger sequencing.
Main Results:
- IDH1/2 mutations were found in 46 of 358 AML patients (12.8%).
- 97.87% of IDH1/2-mutated patients had additional gene mutations, averaging 3.52 mutations per patient.
- Commonly coexisting mutations included NPM1, DNMT3A, and FLT3-ITD. Patients with DNMT3A mutations had a significantly lower complete remission (CR) rate.
Conclusions:
- The majority of IDH-mutated AML cases harbor multiple additional genetic alterations.
- The number and specific types of coexisting mutations significantly influence clinical characteristics and CR rates in IDH-mutated AML.
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