JAK2V617F mutacija kod bolesnika sa B ćelijskom hroničnom limfocitnom leukemijom i prefibrotičkom primarnom mijelofibrozom

Abstract

Uvod Sekundarni maligniteti, naročito solidni tumori, česti su kod bolesnika s hroničnom limfocitnom leukemijom (HLL), ali retko se sreće udruženost mijeloproliferativnih neoplazmi i HLL. Prikaz bolesnika Prikazujemo muškarca starog 67 godina sa B ćelijskom HLL kod koga se nakon devet godina razvila primarna mijelofibroza (PMF). Bolesnik je lečen alkilišućim agensima i analozima purina, što može biti predisponirajući faktor za razvoj mijeloproliferativnog oboljenja. JAK2V617F mutacija nije otkrivena prilikom postavljanja dijagnoze HLL, ali je utvrđena posle devet godina, kada se razvila PMF, što ukazuje na to da su B ćelijska HLL i PMF neoplazme koje potiču od različitih ćelijskih klonova. Zaključak Patogenetski mehanizmi udruženosti mijeloproliferativne i limfoproliferativne neoplazme kod bolesnika nisu razjašnjeni. Potrebna su dalja istraživanja radi utvrđivanja da li ove maligne bolesti potiču od dva različita ćelijska klona ili nastaju od iste pluripotentne matične ćelije hematopoeze.

Introduction Secondary malignancies, particularly solid tumors, are common in patients with chronic lymphocytic leukemia (CLL), but association of myeloproliferative neoplasms and chronic lymphocytic leukemia in the same patient is very rare. Case Outline We report of a 67-year-old man with B-cell chronic lymphoid leukemia (B-CLL) who developed primary myelofibrosis (PMF) nine years after initial diagnosis. Patient received alkylation agents and purine analogue, which can be a predisposing factor for the development of myeloproliferative neoplasms. JAK2V617F mutation was not present initially at the time of CLL diagnosis, but was found after nine years when PMF occurred, which indicates that B-CLL and PMF represent two separate clonal origin neoplasms. Conclusion Pathogenic mechanisms for the development of myeloproliferative and lymphoproliferative neoplasms in the same patient are unknown. Further research is needed to determine whether these malignancies originate from two different cell clones or arise from the same pluripotent hematopoietic stem cell.