1. Thyroid C-Cell Hyperplasia in an Adolescent with Neurofibromatosis Type 1.
- Author
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Segni, Maria, Massa, Rita, Bonifacio, Vincenzo, Tartaglia, Francesco, Pucarelli, Ida, Marzullo, Antonella, and Pasquino, Anna Maria
- Subjects
HYPERPLASIA ,THYROID cancer ,NEUROFIBROMATOSIS ,PHAKOMATOSES ,NEUROFIBROMA ,DISEASES in teenagers - Abstract
Background: Subjects with neurofibromatosis type 1 (NF1) show an increased risk of endocrine tumors, especially pheochromocytoma, whereas thyroid C-cell hyperplasia (CCH) and medullary thyroid carcinoma (MTC) are very rare events described only in adult patients. Method: A case of CCH diagnosed in a 14-year-old girl affected with NF1 is reported. Calcitonin serum level after pentagastin was elevated (286 pg/ml). Genetic testing was performed in order to rule out mutations in the RET proto-oncogene. Result: No germline mutation previously reported in MEN2 was detected. Multifocal and bilateral CCH was demonstrated by immunohistochemistry. Conclusion: It is suggested that in such a genetic background of high risk for malignancy, CCH could be considered as an extremely rare condition likely preceding MTC.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Published
- 2001
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