Citations 1
Separate Occurrence of Extra-adrenal Paraganglioma and Gastrointestinal Stromal Tumor in Monozygotic Twins: Probable Familial Carney Syndrome
Boccon‐Gibod, Liliane, Boman, Françoise, Boudjemaa, Sabah , Fabrè, Monique , Leverger, G, Carney, Aidan J., Carney, Aidan
Pediatric and Developmental Pathology | August 3, 2004 | Volume: 7 | Issue: 4 | Pages: 380-384
The nonfamilial Carney triad includes paraganglioma, gastrointestinal stromal tumor (GIST), and pulmonary chondroma. Some paraganglioma-GIST diads are familial and inherited in an apparent autosomal dominant manner. The familial paraganglioma-GIST syndrome differs from the Carney triad by the absence of female predilection and predominance of paragangliomas. We report the cases of a 12-year-old boy with a paraganglioma of the organ of Zuckerkandl, and his 13-year-old monozygotic twin with a gastric GIST. These two patients, to our knowledge, are the first to be reported as likely having the familial paraganglioma-GIST syndrome following its description by Carney and Stratakis (Am J Med Genet 2002;108:132–139) in 12 patients from five families. A lifetime follow-up and a periodic search for both tumors are indicated in these patients and their families.