Paragangliomas in Carney –Stratakis Syndrome

Horm Metab Res DOI: 10.1055/a-0918-8340Carney-Stratakis Syndrome (CSS) comprises of paragangliomas (PGLs) and gastrointestinal stromal tumors (GISTs). Several of its features overlap with Carney Triad (CT) - PGLs, GISTs, and pulmonary chondromas. CSS has autosomal dominant inheritance, incomplete penetrance, and greater relative frequency of PGL over GISTs. The PGLs in CSS are multicentric and GISTs are multifocal in all the patients, suggesting an inherited susceptibility and associating the two manifestations. In this review, we highlight the clinical, pathological, and molecular characteristics of CSS, along with its diagnostic and therapeutic implications. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Hormone and Metabolic Research - June 6, 2019 Category: Endocrinology Authors: Khurana, Arushi Mei, Lin Faber, Anthony C. Smith, Steven C. Boikos, Sosipatros A. Tags: Review Source Type: research