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Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes

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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DOI: 10.1016/j.gene.2013.12.003

Abstract

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.

Item Type:Article
ID Code:9871
Status:Published
Refereed:Yes
Uncontrolled Keywords:Neurofibromatosis type 1, NF1 gene, RET gene, Thyroid C-cell hyperplasia
Subjects:Area 06 - Scienze mediche > MED/13 Endocrinologia
Divisions:002 Altri enti e centri di ricerca del Nord Sardegna > AOU -Azienda Ospedaliero Universitaria, Sassari
001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Medicina Clinica e Sperimentale
Publisher:Elsevier
ISSN:0378-1119
eISSN:1879-0038
Copyright Holders:© 2013 Elsevier B.V. All rights reserved
Deposited On:11 Jun 2014 13:29

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