Carney triad is the coexistence of three primary tumors: gastrointestinal stromal tumors, paragangliomas, and pulomnary chondromas. ⢠Association was ...
A Rare Case of Carney Triad Ivan A. Morales, Supriya Gupta, M.D., Bruce C. Gilbert, M.D., Norman B. Thomson, M.D., Jayanth H. Keshavamurthy, M.D. Medical College of Georgia at Augusta University Department of Radiology at Augusta University Health Augusta, GA
Introduction • Multiple neoplasia syndromes are often considered with the presentation of multiple rare primary tumors in young patients • Important to recognize the possibility of other primary tumors when associated neoplasms are detected • Following case demonstrates the presentation of a rare multiple neoplasia syndrome, Carney triad
Clinical Presentation • 24-year-old female visiting the area presented to the emergency department with complaints of headache, left-sided facial numbness, and left arm pain for two hours • Left arm pain radiates from her upper back down the left arm with associated paresthesias • Headache gradually developed from the left temple and migrated to the back of the head with associated numbness over the affected area • Recently had surgery for partial resection of a paraspinal tumor • Chest x-ray revealed multiple calcified pulmonary nodules likely representing pulmonary chondromas, a superior mediastinal mass adjacent to the left upper lobe, and evidence of prior abdominal surgery • Upon further questioning and outside hospital records, was determined that she has a history of Carney triad • Previously had partial resection of a T2 paraganglioma and abdominal surgery for gastrointestinal stromal tumor (GIST) resection
Discussion • Carney triad is the coexistence of three primary tumors: gastrointestinal stromal tumors, paragangliomas, and pulomnary chondromas • Association was originally described by J. Aiden Carney in 1977 to occur primarily in young females with these three neoplasms • GISTs were initially thought to be gastric leiomyosarcomas until they were shown to arise from the interstitial cells of Cajal • 2 of the 3 characteristic neoplasms required for the presumptive diagnosis of Carney triad • Most common initial combination is GIST and PCH • Majority of identified patients have only two of the triad • Familial association not yet been identified and no specific ethnic or regional predilection observed • Of patients identified with Carney triad, 85% were women, and onset was before 30- yearsold in 80%
Conclusion
PA chest x-ray: • Multiple popcorn-like calcified pulmonary nodules likely representing pulmonary chondromas • Superior mediastinal mass adjacent to the apex of the left lung • Surgical clips in the upper abdomen from prior gastrointestinal stromal tumor resection
• Carney triad is a rare syndrome of multiple primary neoplasms • Important to be aware of Carney triad and other multiple neoplasia syndromes with the presentation of young patients with supposed sporadic tumors
Coronal cervical spine MRI STIR sequence: • Reveals a left paraspinal mass at the T2 vertebral body level compatible with history of paranganglioma with interval growth
Axial T2 MRI: • Mass approaches lateral aspect of neuroforamen • Demonstrates no evidence of invasion of mass into epidural space
References 1. 2. 3.
Carney JA. The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review. Medicine (Baltimore). 1983 May;62(3):159-69. Carney JA. Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. J Clin Endocrinol Metab. 2009 Oct;94(10):3656-62. Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney– Stratakis syndrome): molecular genetics and clinical implications. J Intern Med. 2009 Jul; 266(1): 43–52.
