SPECTRUM OF MALIGNANCY AND PREMALIGNANCY IN CARNEY-SYNDROME

Carney syndrome is a rare, autosomal dominant, multi-system disorder c omprising 8 well-characterized findings, only 2 of which need be prese nt for a definitive diagnosis. Benign neoplasms are frequent, but mali gnancies are thought to be uncommon, We have studied a family to clari fy the diagnosis and spectrum of clinical manifestations of the syndro me and to develop guidelines for management, The proposita, a 34-year- old woman had classic findings of Carney syndrome, invasive follicular carcinoma of the thyroid gland, Barrett metaplasia of the esophagus, neoplastic colonic polyps, bipolar affective disorder, and atypical me senchymal neoplasm of the uterine cervix distinct from the myxoid uter ine leiomyoma usually seen in this syndrome, Although thyroid gland ne oplasm is rare in Carney syndrome, this patient's most aggressive mani festation was her thyroid carcinoma, The diagnosis of Carney syndrome was established in her 9-year-old son and is a probable diagnosis in h er 12-year-old daughter, Endocrine manifestations were prominent in th e family with at least 9 relatives in 3 generations affected with vari ous endocrine abnormalities. The findings in this family indicate that the spectrum of manifestations in this pleiotropic gene apparently in cludes a malignant course with premalignant and endocrinologic disorde rs not previously recognized. (C) 1997 Wiley-Liss, Inc.