Bestämning av utfallet av translokationen t(11;18)(q21;q21) hos patienter med MALT-lymfom genom FISH analys

Sammanfattning: Lymphoma is a group of malignant tumour diseases developing in the secondary lymphatic system. These diseases can develop in all organs as lymphocytes are ubiquitously in the body. In connection to mucus membranes we find mucosa-associated lymphoid tissue, MALT, in which lymphoma can spontaneously but slowly develop, mostly at chronic inflammation or at autoimmune diseases. Today these diseases are incureable with the exception of some cases caused by Helicobacter pylori-infection. Antibiotic treatment of these cases can induce remissions.MALT-lymphomas have characteristic histological and molecular properties. One of these properties is the translocation t(11; 18)(q21; q21) API2-MALT1 (apoptosis inhibitor 2 – MALT-lymphoma associated translocation 1) . This means that the API2 gene in chromosome 11 and the MALT1 gene in chromosome 18 have been broken and the formed chromosome fragments changed places, which results in formation of new fusion genes. The fusion genes API2-MALT1 encodes a protein, which results in increased inhibition of apoptosis and increased nuclear factor (NF)-κB activation, which results in uncontrolled cell proliferation and tumour cells will be formed.The aim of this work was to detect and analyse the MALT1-gene in tumour cells from cases with the diagnosis MALT-lymphoma in order to study the outcome of translocations. This was carried out with FISH (fluorescence in situ hybridization) -technique. Fluorochrome-labelled probes hybridize to each side of the breakpoint of the MALT1-gene and the result is studied in a fluorescence microscope.The translocation t(11;18)(q21;q21) was found in 22% of the diagnosed MALT-lymphoma patients, which is in accordance to similar studies. 2008:BL7