The Mutation Profile and Prognosis in AML With IDH1/2 Mutation

Completed

• Conditions: AML

• Registration Number: NCT07004816
• Lead Sponsor: Institute of Hematology & Blood Diseases Hospital, China

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.

Study Timeline

• Study Start: 2017-12-21
• Primary Completion: 2020-03-24
• Study Completion: 2020-03-24
• Status Verified: 2024-05
• Study First Submitted: 2025-05-26
• Study First Submitted QC: 2025-05-26
• Last Update Submitted: 2025-05-26
• Study First Posted: 2025-06-04
• Last Update Posted: 2025-06-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1015

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Incidence	Before treatment	Incidence is defined as the incidence of patients who carries IDH1/2 mutations

Secondary Outcome Measures

Name	Time	Method
Relapse-Free Survival(RFS)	Up to 3 years	RFS is defined as the time from the date of complete remission (CR) after entry in this trial until the date of documented relapse or death for subjects who achieve CR.
Overall Survival(OS)	Up to 3 years	OS is defined as the time from the date of randomization until the date of death from any cause

Trial Locations

Locations (1)

Institute of Hematology & Blood Diseases Hospital; 🇨🇳 Tianjin, Tianjin, China