Faculty Collaboration Database

Paragangliomas in Carney-Stratakis Syndrome. Horm Metab Res 2019 Jul;51(7):437-442

Date

06/08/2019

Pubmed ID

31174229

DOI

10.1055/a-0918-8340

Scopus ID

2-s2.0-85069948726 (requires institutional sign-in at Scopus site)   3 Citations

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.

Author List

Khurana A, Mei L, Faber AC, Smith SC, Boikos SA

Author

Ling Mei MD Associate Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adult
Chondroma
Female
Gastrointestinal Stromal Tumors
Germ-Line Mutation
Humans
Leiomyosarcoma
Lung Neoplasms
Male
Paraganglioma
Paraganglioma, Extra-Adrenal
Stomach Neoplasms