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

Paragangliomas in Carney–Stratakis Syndrome

Arushi Khurana
1   VCU Massey Cancer Center - Hematology Oncology, Richmond, Virginia, USA
,
Lin Mei
1   VCU Massey Cancer Center - Hematology Oncology, Richmond, Virginia, USA
,
Anthony C. Faber
2   Virginia Commonwealth University - Philips Institute for Oral Health Research, Richmond, Virginia, USA
,
Steven C. Smith
3   Virginia Commonwealth University - Pathology, Richmond, Virginia, USA
,
Sosipatros A. Boikos
1   VCU Massey Cancer Center - Hematology Oncology, Richmond, Virginia, USA
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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


Publication History

Received: 11 November 2018

Accepted: 07 May 2019

Article published online:
07 June 2019

Georg Thieme Verlag
Rüdigerstraße 14,70469 Stuttgart, Germany

 

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