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

被引：0
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作者：
Katarzyna Labno-Kirszniok
Teresa Nieszporek
Andrzej Wiecek
Grzegorz Helbig
Jan Lubinski
机构：
[1] Medical University of Silesia,Department of Nephrology, Endocrinology and Metabolic Diseases
[2] Medical University of Silesia,Department of Hematology and Bone Marrow Transplantation
[3] Pomeranian Medical University,Department of Genetics and Pathology, International Hereditary Cancer Center
来源：
Hereditary Cancer in Clinical Practice | / 11卷
关键词：
Renal Cell Carcinoma; Acute Myeloid Leukemia; Infective Endocarditis; Central Sleep Apnea; Hemangioblastomas;
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摘要：
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.
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