Molecular Diagnosis of Lymphomas

Določanje klonalnosti limfoidnih proliferacij in dokazovanje specifičnih genetskih sprememb ima pomembno vlogo v diagnostiki limfoidnih neoplazem, saj omogoča ločevanje med neoplastičnimi lezijami in reaktivnimi procesi. Klonalno populacijo limfoidnih celic lahko dokažemo s pomnoževanjem preurejenih genov, ki kodirajo polipeptidne verige receptorjev na površini celic B in T. Z metodo PCR lahko dokažemo tudi kromosomske translokacije, značilne za posamezne vrste limfomov. Uvedli smo tehnike za določanje klonalnosti limfoidnih proliferacij in dokazovanje kromosomskih translokacij t(1114) pri plaščnoceličnem ter t(1418) pri folikularnem limfomu, ki temeljijo na polimerazni verižni reakciji. Tehnike so preproste, hitre in uporabne za molekularnobiološko preiskavo široke palete vzorcev. Specifičnost uvedenih metod je primerljiva s podatki v literaturi. Molekularnobiološke preiskave uporabljamo v diagnostiki limfomov od leta 1997.Demonstration of clonality and detection of specific genetic abnormalities enable distinguishing between neoplastic lesions and reactive processes and, thus, have an important value in the diagnosis of lymphoid neoplasms. A clonal population of lymphoid cells can be detected by PCR amplification of rearranged genes encoding B- and T-cell receptors. Furthermore, chromosomal translocations specific for certain lymphomas can also be detected by PCR. We have introduced PCR-based assays for clonality analysis, and for the detection of t(1114) and t(1418) chromosome translocations in mantle-cell and follicular lymphoma, respectively. Assays are simple and fast and can be applied on small amounts of blood and tissue samples. Detection rates of our PCR assays are in agreement with reported data. We have been using molecular techniques as additional methods in the diagnosis of lymphoproliferative disorders since 1997