Abstract
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.
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We thank Paulo Gomes and Sebastien Hameury for their skillful technical help.
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Boccon-Gibod, L., Boman, F., Boudjemaa, S. et al. Separate Occurrence of Extra-adrenal Paraganglioma and Gastrointestinal Stromal Tumor in Monozygotic Twins. Probable Familial Carney Syndrome. Pediatr. Dev. Pathol. 7, 380–384 (2004). https://doi.org/10.1007/s10024-004-8090-y
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DOI: https://doi.org/10.1007/s10024-004-8090-y