Oncologists should be able to discern the salient clinical features of the most common germline mutations that give rise to neuroendocrine tumors. Astute recognition of an index patient affected by a hereditary syndrome can lead to a "tip-of-the-iceberg" phenomenon whereby their entire kindred can then be proactively monitored and managed potentially with substantial reduction of morbidity and mortality. Through careful history-taking, as well as thoughtful assimilation of findings from the physical exam, biochemical laboratories, scans, and pathology reports, the clinician can spot phenotypic clues that distinguish these familial patterns from sporadic cases of tumorigenesis.
Keywords: Carcinoid tumor; Germline mutation; Multiple endocrine neoplasia; Neuroendocrine tumors; Neurofibromatosis 1; Paraganglioma; Pheochromocytoma; Tuberous sclerosis; Von Hippel-Lindau disease.