Paragangliomas in Carney-Stratakis Syndrome

Horm Metab Res. 2019 Jul;51(7):437-442. doi: 10.1055/a-0918-8340. Epub 2019 Jun 7.

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.

Publication types

  • Review

MeSH terms

  • Adult
  • Chondroma* / diagnosis
  • Chondroma* / genetics
  • Chondroma* / metabolism
  • Chondroma* / pathology
  • Female
  • Gastrointestinal Stromal Tumors* / diagnosis
  • Gastrointestinal Stromal Tumors* / genetics
  • Gastrointestinal Stromal Tumors* / metabolism
  • Gastrointestinal Stromal Tumors* / pathology
  • Germ-Line Mutation*
  • Humans
  • Leiomyosarcoma* / diagnosis
  • Leiomyosarcoma* / genetics
  • Leiomyosarcoma* / metabolism
  • Leiomyosarcoma* / pathology
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Lung Neoplasms* / metabolism
  • Lung Neoplasms* / pathology
  • Male
  • Paraganglioma* / diagnosis
  • Paraganglioma* / genetics
  • Paraganglioma* / metabolism
  • Paraganglioma* / pathology
  • Paraganglioma, Extra-Adrenal* / diagnosis
  • Paraganglioma, Extra-Adrenal* / genetics
  • Paraganglioma, Extra-Adrenal* / metabolism
  • Paraganglioma, Extra-Adrenal* / pathology
  • Stomach Neoplasms* / diagnosis
  • Stomach Neoplasms* / genetics
  • Stomach Neoplasms* / metabolism
  • Stomach Neoplasms* / pathology

Supplementary concepts

  • Carney Triad
  • Carney-Stratakis Syndrome