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Japanese Journal of Clinical Oncology 31:157-161 (2001)
© 2001 Foundation for Promotion of Cancer Research

A Family of Multiple Endocrine Neoplasia Type 2A with the RET Proto-oncogene Mutation in Codon 618 (Cys->Arg)

Atsunori Nakao1, Yoshio Naomoto1, Masafumi Kataoka1, Minoru Haisa1, Kazuhiko Kataoka1, Shinya Saitoh1, Toshiyoshi Fujiwara1, Tomoki Yamatsuji1, Kaoru Shigemitsu1, Tatsuo Umeoka1, Hiroshi Isozaki1, Hitoyasu Futami2, Ken Yamaguchi2 and Noriaki Tanaka1,+,§

1First Department of Surgery, Okayama University School of Medicine, Okayama and 2Growth Factor Division, National Cancer Center Research Institute, Tokyo, Japan

Multiple endocrine neoplasia type 2 (MEN-2) is a hereditary syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia or adenoma of the parathyroid gland with hyperparathyroidism. Recent genetic studies have identified the presence of germline missense mutations in the RET proto-oncogene in almost 100% of MEN-2 patients. We report here three generations of one MEN-2 family with rare missense mutation at codon 618 (Cys->Arg) of the RET proto-oncogene. The first patient was surgically treated at the age of 63 years but died of bone metastasis. His two children (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-oncogene of these three MTC patients and two children of the 29-year-old daughter (9-year-old female and 7-year-old male) were examined. Three MTC patients and the 9-year-old female possessed the mutation. The phenotype of the family with this rare point mutation of the RET proto-oncogene is reported.

+ For reprints and all correspondence: Masafumi Kataoka, First Department of Surgery, Okayama Medical School, 2–5–1 Shikata-Cho, Okayama, Okayama 700-8558, Japan. E-mail: mkataoka@med.okayama-u.ac.jp

§ Abbreviations: MEN-2, multiple endocrine neoplasia type 2; MTC, medullary thyroid carcinoma; FMTC, familial medullary thyroid carcinoma; CT, computed tomography; MIBG, m-iodobenzylguanidine; PCR–SSCP, polymerase chain reaction–single strand conformation polymorphism


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