Ercolino, Tonino and Lai, Roberta and Giachè, Valentino and Melchionda, Salvatore and Carella, Massimo and Delitala, Alessandro and Mannelli, Massimo and Fanciulli, Giuseppe (2014) Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes. Gene, Vol. 536 (2), p. 332-335. ISSN 0378-1119. eISSN 1879-0038. Article.
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Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease with an estimated incidence of 1 in 3000/3500 live births. NF1 is caused by a mutation in a genewhich encodes a protein known as neurofibromin. In up to 5% of cases, NF1 is associated with pheochromocytomas.
RET proto-oncogene encodes a member of the receptor tyrosine kinase family involved in the normal development or the neoplastic growth of neural crest cell lineages. Germ-line RET mutations account for cases of Multiple Endocrine Neoplasia type 2 (MEN2), an autosomal dominant genetic syndrome where medullary thyroid carcinoma (MTC) is the major and more clinically severe feature, with nearly complete penetrance.
C-cell hyperplasia (CCH) is described inMEN2 patients, and it has been implicated as the precursor of in situ
MTC. Patients with RET mutations develop pheochromocytomas in 50% of cases.
Rarely, patientswith NF1 have been found to present, in addition to the NF1 clinical picture, other lesions, such as
parathyroid hyperplasia/adenoma and/or medullary thyroid carcinoma. In spite of the presence of these MEN2
lesions, in none of these patients mutations of gene RET have been found so far.
In this report, we describe the first case of a patient affected by a germ-line mutation in both NF1 and RET genes.
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