In Reply We thank Dr Hall and his colleagues for their thoughtful comments about our case report of a gastrointestinal stromal tumor (GIST) in a pregnant young woman.1 They highlighted the high incidence of succinate dehydrogenase (SDH) deficiency among patients with wild-type (WT) GISTs and the importance of performing germline testing of SDH genes in such patients to diagnose hereditary paraganglioma/pheochromocytoma syndrome (HPPS). The diagnostic criteria and clinical manifestations of HPPS have been detailed thoroughly in their letter. Therefore, we will take this opportunity to highlight some of the key features in the diagnosis and management of WT and SDH-deficient GIST.
Ikoma N, Araujo D, Roland CL. The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste—Reply. JAMA Oncol. 2017;3(12):1740. doi:10.1001/jamaoncol.2017.2503
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: