Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.
The hereditary paraganglioma, MEN1, MEN2, and hereditary thyroid cancer syndromes are clinically discernable and genetically distinct. The first 3 syndromes have been well characterized in the past 10 to 15 years. Recognizing these 3 syndromes and using a multidisciplinary team approach creates valuable opportunities for early diagnosis, reduction of morbidity and mortality, and avoidance of surgical misadventures. Hereditary paraganglioma has parent-of-origin effects and gene-environment interactions that indicate its evolution, and the syndrome sheds light on the role of mitochondria and energy metabolism in cancer. This article delineates the clinical presentation and practical management issues and summarizes the history, gene discovery, and molecular insights for each syndrome.
Rubinstein
Wendy S
WS
Department of Medicine, University of Chicago Pritzker School of Medicine, Chicago, IL 60637, USA. wrubinstein@northshore.org
D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018392:Genomic Imprinting; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics* / Q000628:therapy; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics* / Q000628:therapy; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000628:therapy