Means, Motive, and Opportunity: SDH Mutations Are Suspects in Pituitary Tumors

摘要

T cation of new techniques revolutionizing our under- standing of the genetic pathophysiology of many syn- dromes of endocrine deficiency and excess. It seems that not a month goes by without a new genetic discovery, and last year’s teaching slides are already looking out of date. This ferocious pace of progress is uncovering pathways and potential targets for treatment in many rare condi- tions. Some discoveries are entirely new genetic causes, whereas others are known genes in new disease settings. This situation is analogous to the work of criminologists using the selfsame genetic techniques to link unsolved “cold” cases to known culprits via studies of archived evidence. In the medical setting, similar good clinical de- tective work is leading to known genetic culprits in other neuroendocrine tumors being hauled in for interrogation in connection with their links to pituitary tumors.