Expression of Wilms tumor one gene, cyclin D1, and p53 in acute leukemia – An immunohistochemical study in a tertiary care center from North India

Abstract

Objectives: Various genetic abnormalities affect the expression pattern of key genes involved in acute leukemia (AL). Wilms’ tumor gene 1 (WT1) is overexpressed in 70–90% of AL and is considered an adverse prognostic factor. Little is known about the role of cyclin D1 in AL. Genotyping of p53 is relatively common; however, in resource-limited settings, p53 protein expression by immunohistochemistry (IHC) can be a sensitive and specific tool for p53 mutations and copy number alterations in AL. Material and Methods: In this study, we set out to analyze the IHC expression of WT1, cyclin D1, and p53 in AL and correlate the expression with various clinico-hematologic parameters. Results: Thirty-five cases of AL were analyzed. WT1 expression was observed in 31% (11/35), while cyclin D1 and p53 expression was present in 5.7% (2/35) and 43 % (15/35) of leukemic blasts. WT1 expression was significantly associated with male sex, young age group, bleeding manifestation, and presence of splenomegaly. The absence of cyclin D1 expression was seen in all cases of acute lymphoblastic leukemia and 92.3% of acute myeloid leukemia with significant association with age and gender. Only seven cases of AL revealed positive p53 expression. No statistically significant association of p53 was noticed with age, gender, organomegaly, or lymphadenopathy. Conclusion: To the best of our knowledge, the diagnostic utility of WT1, cyclin D1, and p53 expression in AL using IHC has not been reported previously, especially from the Indian subcontinent.