Prevalence of gene alterations in adult acute myeloid leukemia.

BACKGROUND

Acute myeloid leukemia (AML) is a complicated disease with uncontrolled hematopoietic precursor proliferation induced by various genetic alterations. Runt-related transcription factor-1 () is commonly disrupted by chromosomal translocations in hematological malignancies.

AIM

To characterize gene rearrangements and copy number variations in newly diagnosed adult AML patients, with an emphasis on the impact of clinical and laboratory features on the outcome.

METHODS

Fluorescence in situ hybridization was used to test gene alterations in 77 newly diagnosed adult AML cases. , , , and mutations were tested by PCR. Prognostic clinical and laboratory findings were studied in relation to alterations.

RESULTS

abnormalities were detected by fluorescence in situ hybridization in 41.6% of patients: 20.8% had translocations, 22.1% had amplification, and 5.2% had deletion. Translocations prevailed in AML-M2 ( = 0.019) with a positive expression of myeloperoxidase ( = 0.031), whereas deletions dominated in M4 and M5 subtypes ( = 0.008) with a positive association with CD64 expression ( = 0.05). The modal chromosomal number was higher in cases having amplifications ( = 0.007) and lower in those with deletions ( = 0.008). abnormalities were associated with complex karyotypes ( < 0.001) and were mutually exclusive of mutations. After 44 months of follow-up, abnormalities affected neither patients' response to treatment nor overall survival.

CONCLUSION

abnormalities were mutually exclusive of mutations. abnormalities affected neither patients' response to treatment nor overall survival.