[Two myeloproliferative diseases in one patient - co-occurence of clones].

Classical myeloproliferative diseases can be divided into Philadelphia chromosome-positive chronic myeloid leukemia and Philadelphia chromosome-negative myeloproliferative neoplasm. The driver mutations of the latter occur in the Janus kinase 2 or calreticulin genes. The coincidence of Philadelphia chromosome-negative and -positive myeloproliferative neoplasms in the same patient is exceptionally rare in the literature.

[Calreticulin: Pathophysiology of an unusual gain-of-function and its clinical consequences].

One characteristic type of the common somatic mutations causing myeloproliferative neoplasias is the frameshift mutation of the calreticulin gene that leads to proteins of abnormal structure. The pathologic protein induces novel cell biological processes that are fundamental to the onset and maintenance of myeloproliferative diseases. In this review, an insight is provided into these processes, aiding better understanding of the underlining pathobiological processes and eventually to more effective therapy in the future.

[Non-malignant, non-infectious lymphoproliferation: challenges in the diagnosis and treatment of autoimmune lymphoproliferative syndrome].

Összefoglaló. Az autoimmun lymphoproliferativ szindróma egy ritka, immundeficientiával járó genetikai betegség. Hátterében az extrinszik apoptotikus útvonal génjeinek örökletes vagy szerzett mutációi és a következményesen kialakuló, aktivált lymphocyták negatív szelekciójának a defektusa áll.