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Year : 2019  |  Volume : 44  |  Issue : 2  |  Page : 141-148

Clinicopathological significance of common genetic alterations in patients with acute myeloid leukaemia 1-eight twenty-one of acute myeloid leukaemia: a retrospective cohort study

1 Department of Bioengineering and Technology, Gauhati University, Guwahati, India
2 Department of Clinical Haematology, Gauhati Medical College and Hospital, Guwahati, India
3 Department of Statistics, Dibrugarh University, Dibrugarh, India
4 Department of Haematology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Kandarpa K Saikia
Associate Professor and Head, Department of Bioengineering and Technology Gauhati University, Guwahati 781014, Assam
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ejh.ejh_19_19

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Objectives Acute myeloid leukaemia 1-eight twenty-one (AML1-ETO) is the most frequent abnormality seen in ∼40% of patients with acute myeloid leukaemia with French-American-British-M2 morphology and has received much attention over the past decade. We performed this study to investigate the prevalence and clinical significance of AML1-ETO in a cohort in Assam, India. Coprevalence and clinical significance of FMS-like tyrosine kinase 3, nucleophosmin 1 (NPM1), and p53 mutations, expression of epidermal growth factor receptor (EGFR), and flow markers were also documented and co-related with disease progress. Materials and methods Peripheral blood/bone marrow aspirates were collected from 165 de novo acute myeloid leukaemia patients. Reverse transcriptase PCR and real-time PCR assays were used for detection. Statistical analyses were carried out using statistical packages SPSS 22.0 and Epi Info 2000. Results AML1-ETO t(8;21)(q22;q22) were detected in 24 of 165 (14.60%, 95% confidence interval: 9.77–20.56) samples. The morphologic finding of bone marrow in AML1-ETO-positive patients revealed a higher occurrence of Auer rods. Prominent golgi and abnormal granules were abundantly found with an increasing number of large blasts. The prevalence of NPM1, p53 and EGFR were detected in 7/24 (29.50%), 2/24 (10.50%), and 4/24 (17%) patients, respectively. There was no significant difference in the overall survival (P=0.68) between AML1-ETO-positive and AML1-ETO-negative patients. White blood cell (WBC) count (P=0.00), platelet count (P=0.00), haemoglobin level (P=0.03) and blast count (P=0.01) showed a significant difference between AML1-ETO alive and dead patients. NPM1 mutation was associated with a high WBC count. Association of EGFR and NPM1 in AML-ETO-positive patients was not significant (P=0.75 and 0.88, respectively) compared with AML1-ETO-negative patients. Conclusion In this cohort study, the remission rate of AML1-ETO t(8;21) was not as high as compared with western countries. The presence of NPM1 mutants in AML1-ETO patents is a striking observation, but NPM1 and EGFR had no significant impact on AML1-ETO patients.

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