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Update on the Molecular Diagnosis of Endocrine Tumors: Toward –omics-Based Personalized Healthcare?

Genomic Medicine Institute (F.W., C.E.), Lerner Research Institute and Taussig Cancer Institute (C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Department of Genetics and Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine (C.E.), Cleveland, Ohio 44106; and Department of General, Visceral, and Transplantation Surgery, University Hospital Essen (F.W.), 45122 Essen, Germany

Address all correspondence and requests for reprints to: Charis Eng, M.D., Ph.D., Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, Ohio 44195. E-mail: engc{at}ccf.org.

Genetic advances in endocrine neoplasia provided the paradigm for the practice of clinical cancer genetics: germline RET mutations in multiple endocrine neoplasia type 2. In the last 14 yr, both genetics and –omics advances have occurred, almost exponentially in the last 5 yr. The time has come to reevaluate recent advances in genomic medicine’s promise to revolutionize personalized healthcare in the context of endocrine neoplasias. This update focuses on two examples of endocrine neoplasias, those of the thyroid and of the adrenal, and discusses recent advances in germline and somatic genetics and genomics, as they relate to clinical application.