| Abstract | Waldenströmova makroglobulinemija je rijedak indolentni B-stanični limfom koji je karakteriziran prisutnošću monoklonalnog imunoglobulina M u serumu i klonalnom proliferacijom limfoplazmocitoidnih stanica u koštanoj srži. Najčešće pogađa stariju populaciju, posebno muškarce bijele rase, s prosječnom dobi dijagnoze između 63 i 73 godine. Patogeneza Waldenströmove makroglobulinemije uključuje genetske, imunološke i okolišne čimbenike, a ključnu ulogu igra somatska mutacija MYD88L265P, prisutna u većini slučajeva. Ova mutacija aktivira signalne putove koji promiču preživljavanje i proliferaciju tumorskih stanica. Kliničke manifestacije Waldenströmove makroglobulinemije mogu uključivati simptome uzrokovane infiltracijom koštane srži, poput anemije, trombocitopenije i neutropenije, kao i simptome povezane s visokom razinom imunoglobulina M, što može dovesti do hiperviskoznosti, periferne neuropatije i drugih komplikacija. Waldenströmova makroglobulinemija je klinički i patološki blisko povezana s drugim B-staničnim tumorima, posebno s multiplim mijelomom i drugim vrstama limfoma. S limfomima dijeli infiltraciju CD20+ limfocitnim stanicama u koštanoj srži i drugim organima poput limfnih čvorova, jetre i slezene, dok s multiplim mijelomom dijeli infiltraciju koštane srži plazma stanicama i proizvodnju monoklonalnog imunoglobulina, u ovom slučaju IgM. Liječenje uključuje kemoimunoterapiju s rituksimabom, inhibitore Brutonove tirozin kinaze, inhibitore proteasoma i kod mlađih pacijenata s refraktornom ili recidivnom bolesti, autolognu transplantaciju matičnih stanica.Terapijski ciljevi su usmjereni na kontrolu simptoma, smanjenje rizika oštećenja organa i produljenje preživljavanja. Radi se o neizlječivoj bolesti, s medijanom preživljenja oko 10 godina. |
| Abstract (english) | Waldenström macroglobulinemia is a rare indolent B-cell lymphoma characterized by monoclonal immunoglobulin M in the serum and clonal proliferation of lymphoplasmacytic cells in the bone marrow. It predominantly affects the older population, especially white males, with an average age at diagnosis between 63 and 73 years. The pathogenesis of Waldenström macroglobulinemia involves genetic, immunological, and environmental factors, with the somatic MYD88L265P mutation playing a crucial role in most cases. This mutation activates signaling pathways that promote the survival and proliferation of tumor cells. Clinical manifestations can include symptoms caused by bone marrow infiltration, such as anemia, thrombocytopenia, and neutropenia, and symptoms associated with high immunoglobulin M levels, which can lead to hyperviscosity, peripheral neuropathy, and other complications. Waldenström macroglobulinemia is clinically and pathologically closely related to other B-cell malignancies, particularly multiple myeloma and other types of lymphoma. It is characterized by the infiltration of CD20+ lymphocytic cells in the bone marrow and other organs such as lymph nodes, liver, and spleen like lymphomas. Additionally, the infiltration of bone marrow by plasma cells and the production of monoclonal immunoglobulin resembles multiple myeloma, particularly IgM myeloma. Treatment includes chemoimmunotherapy with rituximab, Bruton’s tyrosine kinase inhibitors, proteasome inhibitors, and autologous stem cell transplantation for younger patients with refractory or relapsed disease. The therapeutic goals aim to control symptoms, reduce the risk of organ damage, and prolong survival. It is an incurable disease, but the median survival rate is 10 years. |
