The importance of molecular diagnosis in the management of autosomal dominant hypocalcemia type 1 (ADH1): Case report

Scientific advances constantly improve our understanding of the mechanisms underlying tumorigenesis, allowing us now to analyze cancer in a more precise manner and to identify at an earlier stage the tumors that have greater risk of aggressive behavior. Understanding neuroendocrine neoplasms at molecular level has enabled increasingly targeted treatments, with safety and efficacy validated in large randomized trials. Moreover, the first studies of targeted therapies after molecular profiling of neuroendocrine neoplasms have shown encouraging results, allowing us to foresee ever more personalized medical treatments in the future. This literature review aims to summarize recent advances in the study of neuroendocrine neoplasms and to show how identification of new mechanisms underlying tumorigenesis can be of benefit in clinical practice.