Why the study?
Carney-Stratakis Syndrome overlaps clinically with Carney Triad, prompting a review of its clinical, pathological, and molecular characteristics and therapeutic implications.
This review highlights the clinical, pathological, and molecular characteristics of Carney-Stratakis Syndrome, an inherited condition characterized by paragangliomas and gastrointestinal stromal tumors.
May prompt genetic evaluation in paragangliomas with GISTs; leaves open prospective management studies.
Carney-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.
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Khurana et al. (2019) studied this question.
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