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Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani
Muhammad Tariq1,2, Sadaf Shahab1, Javeria Rauf Saeed3,4
1Department of Haematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan.
Objective:
To ascertain the frequency of the MLL::AF9 gene rearrangement and its association with survival in Pakistani patients suffering from acute myeloid leukaemia (AML).
Study Design:
Analytical study. Place and Duration of the Study: Department of Haematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan, from 2015 to 2020.
Methodology:
Patients without a history of past AML chemotherapy, aged from 10 to 75 years, were included. Individuals with metastatic cancer, chronic myeloid leukaemia, or other haematological conditions were excluded. Identifying the MLL::AF9 gene involved RNA extraction, cDNA synthesis, and Real-time PCR amplification. The Chi-square test was used to examine the relationship between survival and the MLL::AF9 mutation. A Welch two-sample t-test was used to evaluate survival days depending on the MLL::AF9 gene rearrangement, while ANOVA was used to analyse survival days across various death statuses.
Results:
The mean age of 130 patients was 36.65 ± 13.01 years, with 64.62% being males. The most common leukaemia type was AML-M2 (n = 32, 24.62%). During the study follow-up, 22.31% were still alive, 40.77% died, and the status of 36.92% were unknown. MLL::AF9 gene rearrangement was present in 11.54%. The group with MLL::AF9 gene rearrangement had significantly longer mean 'survival days' (1,542.33 ± 926.07) compared to the group without the gene rearrangement (206.42 ± 359.57, p <0.001).
Conclusion:
MLL-AF9 mutation was present in 11.54%. Age and MLL::AF9 gene rearrangement were significant predictors of survival in leukaemia patients.
Key Words:
Acute myeloid leukaemia, MLL::AF9, Gene rearrangement, Survival.
Insights
The MLL::AF9 gene rearrangement was found in 11.54% of Pakistani acute myeloid leukaemia patients. This genetic mutation was associated with significantly longer survival times, indicating its importance as a prognostic factor.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Acute myeloid leukaemia (AML) is a heterogeneous blood cancer.
- Gene rearrangements play a critical role in AML pathogenesis and prognosis.
- The MLL::AF9 gene rearrangement is a specific genetic alteration found in certain AML subtypes.
Purpose of the Study:
- To determine the frequency of the MLL::AF9 gene rearrangement in Pakistani AML patients.
- To investigate the association between the MLL::AF9 gene rearrangement and patient survival.
- To identify prognostic markers for AML in the Pakistani population.
Main Methods:
- An analytical study was conducted on 130 AML patients aged 10-75 years.
- RNA extraction, cDNA synthesis, and Real-time PCR were used to detect the MLL::AF9 gene rearrangement.
- Statistical analyses including Chi-square, Welch t-test, and ANOVA were employed to assess survival data.
Main Results:
- The MLL::AF9 gene rearrangement was identified in 11.54% of the study cohort.
- Patients with the MLL::AF9 rearrangement exhibited significantly longer mean survival days (1,542.33) compared to those without it (206.42, p <0.001).
- AML-M2 was the most common subtype (24.62%), and 40.77% of patients died during follow-up.
Conclusions:
- The MLL::AF9 mutation is present in a subset of Pakistani AML patients.
- Age and the MLL::AF9 gene rearrangement are significant predictors of survival in AML.
- This finding highlights the prognostic value of MLL::AF9 in AML patient management.
