Pediatric and Developmental Pathology

, Volume 7, Issue 4, pp 380–384

Separate Occurrence of Extra-adrenal Paraganglioma and Gastrointestinal Stromal Tumor in Monozygotic Twins. Probable Familial Carney Syndrome

  • Liliane Boccon-Gibod
  • Françoise Boman
  • Sabah Boudjemaa
  • Monique Fabre
  • Guy Leverger
  • Aidan J. Carney
Original article

DOI: 10.1007/s10024-004-8090-y

Cite this article as:
Boccon-Gibod, L., Boman, F., Boudjemaa, S. et al. Pediatr. Dev. Pathol. (2004) 7: 380. doi:10.1007/s10024-004-8090-y

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.

Carney syndromeCarney triadchildhoodfamilial diseasegastrointestinal stromal tumorparaganglioma

Copyright information

© Society for Pediatric Pathology 2004

Authors and Affiliations

  • Liliane Boccon-Gibod
    • 1
  • Françoise Boman
    • 2
  • Sabah Boudjemaa
    • 1
  • Monique Fabre
    • 3
  • Guy Leverger
    • 4
  • Aidan J. Carney
    • 5
  1. 1.Department of PathologyUniversity School of Medicine of Paris VI and Hôpital d’Enfants Armand Trousseau Assistance Publique—Hôpitaux de ParisParis cedex 12France
  2. 2.Department of PathologyUniversity School of Medicine and Hospital of Lille, CHRULille CedexFrance
  3. 3.Department of PathologyUniversity School of Medicine of Paris XI and Hospital of Bicêtre Assistance Publique—Hôpitaux de ParisLe Kremlin-BicêtreFrance
  4. 4.Department of Oncology and HematologyUniversity School of Medicine of Paris VI and Hôpital d’Enfants Armand Trousseau Assistance Publique—Hôpitaux de ParisParis cedexFrance
  5. 5.Department of Laboratory Medicine and PathologyMayo Clinic and Mayo FoundationRochesterUSA