title: Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome.
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.
authors.affiliation: Department of Pathology, University School of Medicine of Paris VI and Hôpital d'Enfants Armand Trousseau Assistance Publique--Hôpitaux de Paris, 26 avenue du Docteur Arnold Netter, 75571, Paris cedex 12, France. liliane.boccon-gibod@trs.ap-hop-paris.fr
authors.forename: Liliane
authors.initials: L
authors.lastname: Boccon-Gibod
authors.forename: Françoise
authors.initials: F
authors.lastname: Boman
authors.forename: Sabah
authors.initials: S
authors.lastname: Boudjemaa
authors.forename: Monique
authors.initials: M
authors.lastname: Fabre
authors.forename: Guy
authors.initials: G
authors.lastname: Leverger
authors.forename: Aidan J
authors.initials: AJ
authors.lastname: Carney
mesh_terms: D002648:Child; D004200:Diseases in Twins; D046152:Gastrointestinal Stromal Tumors / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D010236:Paraganglioma, Extra-Adrenal / Q000473:pathology* / Q000503:physiopathology*; D014430:Twins, Monozygotic