Cytogenetic Profile of Newly Diagnosed Acute Myeloid Leukemia Patients: Insights from a Study at a Tertiary Care Centre in South India.

PURPOSE: Acute Myeloid Leukemia (AML) is a heterogeneous hematologic malignancy characterized by a wide range of cytogenetic abnormalities that have critical diagnostic and prognostic implications. South Indian populations are underrepresented in global AML research, warranting region-specific cytogenetic profiling.

METHODS

We performed a cytogenetic analysis of 400 newly diagnosed adult AML patients at a tertiary care center in South India. Conventional karyotyping and fluorescence in situ hybridization (FISH) were performed, and findings were correlated with clinical parameters according to the 2016 WHO  and FAB classifications.

RESULTS

Abnormal karyotypes were observed in 49.5% of cases, while 50.5% showed normal karyotypes. The most frequent abnormalities were t(15;17) (16.2%), t(8;21) (6.7%), and inv(16) (3.7%). Other notable findings included trisomy 8 (1.7%), trisomy 21 (1%), and complex karyotypes (6.5%). AML-M4 (33.5%) was the most common FAB subtype. Significant associations were noted between cytogenetic risk groups and variables such as age, gender, and white blood cell count. The distribution of cytogenetic aberrations revealed both similarities and distinct differences when compared with global data, reflecting ethnic and geographical influences.

CONCLUSION

This study highlights the cytogenetic diversity of AML in a South Indian cohort and confirms the importance of cytogenetic analysis in disease classification, risk stratification, and therapeutic decision-making. The findings underscore the need for regional data to refine AML diagnosis and optimize management strategies across different populations.