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

Tonino Ercolino, Roberta Lai, Valentino Giachè, Salvatore Melchionda, Massimo Carella, Alessandro Delitala, Massimo Mannelli, Giuseppe Fanciulli

Research output: Contribution to journalArticlepeer-review

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 gene which 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 in MEN2 patients, and it has been implicated as the precursor of in situ MTC. Patients with RET mutations develop pheochromocytomas in 50% of cases. Rarely, patients with 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.

Original languageEnglish
Pages (from-to)332-335
Number of pages4
JournalGene
Volume536
Issue number2
DOIs
Publication statusPublished - Feb 25 2014

Keywords

  • Neurofibromatosis type 1
  • NF1 gene
  • RET gene
  • Thyroid C-cell hyperplasia

ASJC Scopus subject areas

  • Genetics

Fingerprint

Dive into the research topics of 'Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes'. Together they form a unique fingerprint.

Cite this