A family of multiple endocrine neoplasia type 2A with the RET proto-oncogene mutation in codon 618 (Cys -> Arg)

Citation
A. Nakao et al., A family of multiple endocrine neoplasia type 2A with the RET proto-oncogene mutation in codon 618 (Cys -> Arg), JPN J CLIN, 31(4), 2001, pp. 157-161
Citations number
12
Language
INGLESE
art.tipo
Editorial Material
Categorie Soggetti
Oncology
Journal title
JAPANESE JOURNAL OF CLINICAL ONCOLOGY
ISSN journal
0368-2811 → ACNP
Volume
31
Issue
4
Year of publication
2001
Pages
157 - 161
Database
ISI
SICI code
0368-2811(200104)31:4<157:AFOMEN>2.0.ZU;2-M
Abstract
Multiple endocrine neoplasia type 2 (MEN-2) is a hereditary syndrome charac terized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperpla sia or adenoma of the parathyroid gland with hyperparathyroidism. Recent ge netic studies have identified the presence of germline missense mutations i n the RET proto-oncogene in almost 100% of MEN-2 patients. We report here t hree generations of one MEN-2 family with rare missense mutation at codon 6 18 (Cys --> Arg) of the RET proto-oncogene. The first patient was surgicall y treated at the age of 63 years but died of bone metastasis. His two child ren (29-year-old daughter and 25-year-old son) were treated surgically for MTC and neck lymph node metastasis. Germline mutations of the RET proto-onc ogene of these three MTC patients and two children of the 29-year-old daugh ter (9-year-old female and 7-year-old male) were examined, Three MTC patien ts and the 9-year-old female possessed the mutation. The phenotype of the f amily with this rare point mutation of the RET proto-oncogene is reported.