Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.

Familial Cancer
Ismail AlrashdiShirley V Hodgson

Abstract

Carney triad is a usually sporadic association of pulmonary chondroma, gastrointestinal stromal tumours, and paraganglioma. The majority of patients have two of these tumours, the gastric and pulmonary tumours being the most common combination. Carney Stratakis syndrome is an association of familial paraganglioma and gastric stromal sarcoma and it is considered to be a distinct condition from Carney triad as it is dominantly inherited and not associated with pulmonary chondroma. We report two unrelated patients each with two components of Carney triad. A pathological mutation in succinate dehydrogenase subunit B gene was identified in one and a variant in the same gene was identified in the other. This report demonstrates the difficulty in distinguishing between Carney triad and Carney Stratakis syndrome due to the rarity of the individual components. The fact that most patients with Carney triad have only two components of the Triad, and the long interval often seen between the occurrence of the first and the second component makes it difficult to differentiate confidently between the two conditions. Molecular information should improve the diagnosis of Carney triad.

References

Jun 30, 1977·The New England Journal of Medicine·J A CarneyH Gordon
Feb 22, 2002·American Journal of Medical Genetics·J Aidan Carney, Constantine A Stratakis
Apr 28, 2006·Seminars in Diagnostic Pathology·Elliott Foucar, Mark R Wick
Dec 5, 2006·Nature Clinical Practice. Endocrinology & Metabolism·Aaron M Drucker, Robyn L Houlden
Nov 29, 2007·The American Journal of Surgical Pathology·Fausto J RodriguezJ Aidan Carney
Sep 3, 2009·The Journal of Clinical Endocrinology and Metabolism·J Aidan Carney

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Citations

Oct 15, 2011·Pediatric Radiology·Guillaume Ssi-Yan-KaiChristiane Baunin
Jul 16, 2015·European Journal of Human Genetics : EJHG·Sosipatros A BoikosConstantine A Stratakis
Jul 21, 2016·Hereditary Cancer in Clinical Practice·Riccardo Ricci
May 10, 2019·Abdominal Radiology·Venkata S KatabathinaSrinivasa R Prasad
Mar 30, 2021·Radiology. Cardiothoracic Imaging·Mohamed SayyouhElizabeth Lee

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