A new observation of the Carney's triad with long follow-up period and additional tumors

The etiology of the Carney's triad (gastrointestinal stromal tumors, pulmon ary chondromas, and paragangliomas) is unknown, and only 57 cases have been reported since its identification in 1977. We report the clinical course o f a female with the complete triad and some additional tumors. Bilateral va gal paragangliomas were treated surgically and with radiotherapy between th e ages of 24 and 26 years. Subsequently she underwent surgery for a gastric leiomyosarcoma (27 years), a pleomorphic adenoma of the parotid gland (49 years) and a multifocal breast cancer with axillary spread (50 years). A ca lcified lesion was also noticed in the left lung, the radiologic diagnosis of which was consistent with chondroma. A mediastinal paraganglioma, detect ed at 56 years on a control X-ray of the chest, was partially excised at 63 years. At the last control, performed at 66 years, the patient was alive w ith residual cervical and mediastinal paraganglioma. Her younger brother wa s affected by Hirschsprung's disease and died at 54 years of rectal cancer. Her daughter is 33 and has been suffering since birth with severe constipa tion. In conclusion, this is one of the longest followed-up patients with C arney's triad. Her case illustrates the need for early recognition of the s etting in order to detect the component tumors at a stage when surgery may be curative, and careful and life-long follow-up, both because the multicen tricity of the classic components tends to manifest metachronously and beca use of the tendency to develop other tumors, some of which may be malignant . Furthermore, the presence of Hirschsprung's disease in the patient's fami ly, coupled with the alleged common origin of two component lesions from de rivatives of the neural crest, open new avenues for the understanding of th is disorder.