Role of SF3B1 Mutation in Assessment of Acute and Chronic Lymphatic Leukemia

Leukemia is one of the deadliest diseases having negative impact on people all over the world. Acute Lymphocytic Leukemia (ALL) is a type of WBC cancer, it's a rapidly invasive disease that originates from B- or T-lymphocyte progenitors. Accumulation of lymphoblasts and suppression of normal cells are the main characteristics of the disease course .

Acute lymphoblastic leukemia (ALL) predominantly affects children, with an incidence of 3-4/100,000 in patients under 14 years of age. The five-year survival rate is approximately 90% in children and 65% in adults .

The French-American-British (FAB) categorizes ALL into three subtypes However, the WHO classification incorporates immunophenotypic and genetic details, offering a more accurate and clinically significant classification, helping to choose therapies and prognostic evaluations according to the distinct characteristics of leukemia. Medical professionals have recently recommended that WHO categorization is better compared to FAB .

Chronic lymphoproliferative diseases (CLPD) are considered as a heterogeneous group of diseases characterized by monoclonal expansion and accumulation of apparently mature lymphocytes, which have a proliferative and/or survival advantage over normal lymphocytes in different organs such as bone marrow, peripheral blood and lymph nodes. This translates into the progressive accumulation of clonal cells and their products, causing peripheral blood and bone marrow lymphocytosis, in addition to lymphadenopathy, splenomegaly or other organomegaly .

Recently, mutations in the genes involved in the spliceosome have attracted considerable interest in different neoplasms. Among the spliceosome mutations, those in the SF3B1 gene are the most frequent and relevant in haematological diseases. Most human genes encode several mRNA isoforms by the alternative splicing process. Because alternatively spliced mRNA isoforms are often associated with cancer, spliceosome mutations have recently sparked significant interest in different neoplasms .