Acute myeloid leukemia in a 38-year-old hemodialyzed patient with von Hippel-Lindau disease.

[von hippel-lindau disease]

Von Hippel-Lindau disease (VHL disease ) is a hereditary cancer predisposition syndrome caused by mutations of the von Hippel-Lindau tumor suppressor gene . The gene product , pVHL , regulates the level of proteins that play a central role in protecting cells against hypoxia . Clinical hallmarks of von Hippel-Lindau disease are the development of central nervous system hemangioblastomas , renal cell carcinoma , pheochromocytoma , neuroendocrine tumors and endolymphatic sac tumors .In this article the case of a 38 -year old hemodialyzed patient who became ill with acute myeloid leukemia (AML ) three years after being diagnosed with von Hippel-Lindau disease is presented .After cytostatic treatment the patient went into complete hematologic remission but there was still residual disease at the genetic level . After consolidation therapy patient developed bone marrow aplasia and severe pneumonia . Despite intensive treatment the patient died from acute respiratory failure .In this paper we present for the first time a case of von Hippel-Lindau disease associated with acute myeloid leukemia . No evidence of relationship between VHL disease and blood cancers has been demonstrated so far . Despite the fact that there is an increased risk of cancer development in hemodialyzed patients , cancer is a relatively rare cause of death in the dialysed population , and the most common malignancies are genitourinary cancers . It seems likely that development of acute myeloid leukemia in patient with VHL disease can be related to epigenetic alterations of the VHL gene , but further studies are needed .