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

Atsunori Nakao; Yoshio Naomoto; Masafumi Kataoka; Minoru Haisa; Kazuhiko Kataoka; Shinya Saitoh; Toshiyoshi Fujiwara; Tomoki Yamatsuji; Kaoru Shigemitsu; Tatsuo Umeoka; Hiroshi Isozaki; Hitoyasu Futami; Ken Yamaguchi; Noriaki Tanaka

doi:10.1093/jjco/hye034

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

Atsunori Nakao, Yoshio Naomoto, Masafumi Kataoka, Minoru Haisa, Kazuhiko Kataoka, Shinya Saitoh, Toshiyoshi Fujiwara, Tomoki Yamatsuji, Kaoru Shigemitsu, Tatsuo Umeoka, Hiroshi Isozaki, Hitoyasu Futami, Ken Yamaguchi, Noriaki Tanaka

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Abstract

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.

Original language	English
Pages (from-to)	157-161
Number of pages	5
Journal	Japanese journal of clinical oncology
Volume	31
Issue number	4
DOIs	https://doi.org/10.1093/jjco/hye034
Publication status	Published - 2001

Keywords

Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Prophylactic surgery
RET proto-oncogene

ASJC Scopus subject areas

Oncology
Radiology Nuclear Medicine and imaging
Cancer Research

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1093/jjco/hye034

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Nakao, A., Naomoto, Y., Kataoka, M., Haisa, M., Kataoka, K., Saitoh, S., Fujiwara, T., Yamatsuji, T., Shigemitsu, K., Umeoka, T., Isozaki, H., Futami, H., Yamaguchi, K., & Tanaka, N. (2001). A family of multiple endocrine neoplasia type 2A with the RET proto-oncogene mutation in codon 618 (Cys→Arg). Japanese journal of clinical oncology, 31(4), 157-161. https://doi.org/10.1093/jjco/hye034

Nakao, A, Naomoto, Y, Kataoka, M, Haisa, M, Kataoka, K, Saitoh, S , Fujiwara, T, Yamatsuji, T, Shigemitsu, K, Umeoka, T, Isozaki, H, Futami, H, Yamaguchi, K & Tanaka, N 2001, 'A family of multiple endocrine neoplasia type 2A with the RET proto-oncogene mutation in codon 618 (Cys→Arg)', Japanese journal of clinical oncology, vol. 31, no. 4, pp. 157-161. https://doi.org/10.1093/jjco/hye034

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abstract = "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.",

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author = "Atsunori Nakao and Yoshio Naomoto and Masafumi Kataoka and Minoru Haisa and Kazuhiko Kataoka and Shinya Saitoh and Toshiyoshi Fujiwara and Tomoki Yamatsuji and Kaoru Shigemitsu and Tatsuo Umeoka and Hiroshi Isozaki and Hitoyasu Futami and Ken Yamaguchi and Noriaki Tanaka",

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AU - Nakao, Atsunori

AU - Naomoto, Yoshio

AU - Kataoka, Masafumi

AU - Haisa, Minoru

AU - Kataoka, Kazuhiko

AU - Saitoh, Shinya

AU - Fujiwara, Toshiyoshi

AU - Yamatsuji, Tomoki

AU - Shigemitsu, Kaoru

AU - Umeoka, Tatsuo

AU - Isozaki, Hiroshi

AU - Futami, Hitoyasu

AU - Yamaguchi, Ken

AU - Tanaka, Noriaki

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

KW - Medullary thyroid carcinoma

KW - Multiple endocrine neoplasia type 2A

KW - Prophylactic surgery

KW - RET proto-oncogene

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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