Paragangliomas in Carney–Stratakis Syndrome

Arushi Khurana; Lin Mei; Anthony C. Faber; Steven C. Smith; Sosipatros A. Boikos

doi:10.1055/a-0918-8340

Hormone and Metabolic Research, Table of Contents

Horm Metab Res 2019; 51(07): 437-442
DOI: 10.1055/a-0918-8340

Review

Paragangliomas in Carney–Stratakis Syndrome

Authors

Arushi Khurana

¹VCU Massey Cancer Center - Hematology Oncology, Richmond, Virginia, USA
Lin Mei

¹VCU Massey Cancer Center - Hematology Oncology, Richmond, Virginia, USA
Anthony C. Faber

²Virginia Commonwealth University - Philips Institute for Oral Health Research, Richmond, Virginia, USA
Steven C. Smith

³Virginia Commonwealth University - Pathology, Richmond, Virginia, USA
Sosipatros A. Boikos

¹VCU Massey Cancer Center - Hematology Oncology, Richmond, Virginia, USA

Abstract

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.

Key words

Carney–Stratakis syndrome - paragangliomas - GIST - pheochromocytomas

Full Text

References

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