Chronic Lymphocytic Leukaemia (CLL)

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Chronic lymphocytic leukaemia(CLL)is a common adult leukaemia that results from proliferation of neoplastic B- lymphocyte clones. The disease is most frequent in patients over the age of 60 and has a variable clinical course. A variety of genetic aberrations can drive the leukaemia and also initiate the transformation into high grade malignancy. Diagnosis of CLL is usually straight forward. Most cases are usually suspected by the presence of peripheral blood lymphocytosis of small mature lymphocytes with scant cytoplasm. Smear cells are typically feature of the leukaemic cells due to increased cellular fragility. International Workshop on Chronic Lymphocytic Leukaemia criteria for diagnosis require >5x10^9/L of clonal B lymphocytes. The clonality of the circulating b cells must be confirmed with Immunophenotyping by flow cytometry(1). When a clonal population of B …show more content…

This mutation is associated with particularly poor outcome and resistance to front-line treatment with fludarabine, cyclophosphamide and rituximab(FCR)(26). In clinical trials, treatment of del(17p) CLL with FCR only achieve complete remission in 5% of patients and overall survival is only 38% at 3years (27). The key gene effected by the 17p deletion is tumour protein p53(TP53), which has an integral role in the induction of apoptosis or cell cycle arrest following DNA damage(28). 80-90% of CLL patients with the 17p deletion have also been shown to have TP53 mutation on the remaining copy, thus disabling the apoptotic pathway in the malignant cells. Interphase FISH is suitable for identifying del(17p) however it does not detect mutations in TP53, which can have the same poor prognosis and treatment refractoriness(29). Between 13.5-26% of CLL cases have dysfunctional/non-functional TP53 gene which is considerable more than the 7% which have

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