Clinical trial NCT07004816: The Mutation Profile and Prognosis in AML With IDH1/2 Mutation
Official title: The Mutation Profile and Prognosis in Acute Myeloid Leukemia With IDH1/2 Mutation
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: AML
Lead sponsor: Institute of Hematology & Blood Diseases Hospital, China
Sponsor class: OTHER
First posted: 2025-06-04
Enrollment: 1015
Sex: ALL
Maximum age (years): 60
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: We have a prospective clinical cohort including 500 adult AML patients. And we have stored leukemia sample from these patients. In this program we will do mutation profile in these patients. Also, we will elucidate the incidence of IDH1/2 mutations in adult AML in China and elucidate the prognostic effect of IDH1/2 mutation in AML.

Brief summary: We have a prospective clinical cohort including 500 adult AML patients. And we have stored leukemia sample from these patients. In this program we will do mutation profile in these patients. Also, we will elucidate the incidence of IDH1/2 mutations in adult AML in China and elucidate the prognostic effect of IDH1/2 mutation in AML.

Detailed description: In this program, first, we want to uncover mutation profiles in the 500 AML patients including AML1-ETO CBFb-MYH11, MLL translocation, NPM1, FLT3, DNMT3a, CEBPA, TET2, ASXL1, U2AF2, TP53, c-KIT, RUNX1, NRAS, KRAS, PTPN11 genetic alteration in addition to IDH1/2 mutation. These patients received regimen, which is consistent with NCCN and ELN guidelines. NPM1, FLT3, DNMT3a, CEBPA, TET2, ASXL1, U2AF2, TP53, c-KIT, RUNX1, NRAS, KRAS, PTPN11, and IDH1/2 genetic alteration will be detected by targeted next generation sequencing. AML1-ETO and CBFb-MYH11 will be detected by RT-PCR. MLL translocation will be detected by FISH(fluorescence in situ hybridization).Next, we will elucidate the incidence of IDH1/2 mutations in adult AML in China. Then we will investigate mutation profile in IDH1/2 mutation AML patients. Finally, we will elucidate the prognostic effect of IDH1/2 mutation in AML. At last, we will instigate how mutation profile affects the prognosis in IDH1/2 mutation AML patients.

Eligibility criteria: Inclusion Criteria:

1. Age of less than 60 years old;
2. Patients that meet the diagnostic criteria(WHO 2008 criteria) of AML (except APL subtypes).
3. Adult patients are willing to participate in the study and sign the informed consent by themselves or by their immediate family. Patients under 18 years old willing to participate should have their legal guardians sign the informed consent.

Exclusion Criteria:

1. Patients with other blood diseases(for example, haemophiliacs) are excluded.
2. With mutation of breakpoint cluster region-Abelson(BCR-ABL) fusion gene and in need of tyrosine kinase inhibitors therapy;
3. Acute panmyelosis with myelofibrosis and myeloid sarcoma patients;
4. Had other malignant tumor in need of treatment;
5. Patients with other factors which were considered unsuitable to participate in the study by the investigators.

Primary outcomes:
measure: Incidence
timeFrame: Before treatment
Secondary outcomes:
measure: Relapse-Free Survival(RFS)
timeFrame: Up to 3 years
measure: Overall Survival(OS)
timeFrame: Up to 3 years
Other outcomes:
Locations:
city: Tianjin
country: China
facility: Institute of Hematology & Blood Diseases Hospital
state: Tianjin
Study officials:
References: