Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report

Tomoyuki Yamashita; Masatoshi Iihara; Joji Okamoto; Masako Kanbe; Yukio Ito; Makio Kawakami; Shin Ichi Egawa; Ken Yamaguchi; Takao Obara

doi:10.1093/jjco/27.1.42

Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report

Tomoyuki Yamashita, Masatoshi Iihara, Joji Okamoto, Masako Kanbe, Yukio Ito, Makio Kawakami, Shin Ichi Egawa, Ken Yamaguchi, Takao Obara

IRIDeS - Disaster Medical Science Division

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

Multiple endocrine neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. It has recently been shown to be associated with germ-line mutations in the RET proto-oncogene. We describe a 21-year-old man from a MEN 2A family who was found by DNA analysis to be a gene carrier of MEN 2A and then was diagnosed, using a stimulated calcitonin test, as having presymptomatic medullary thyroid carcinoma. His morbidity seems to have been cured by total thyroidectomy as postoperative calcitonin levels after stimulation are normal. It is concluded that direct genetic analysis for mutations in the RET proto-oncogene should be the diagnostic test of choice for identifying family members at risk for MEN 2A.

Original language	English
Pages (from-to)	42-45
Number of pages	4
Journal	Japanese Journal of Clinical Oncology
Volume	27
Issue number	1
DOIs	https://doi.org/10.1093/jjco/27.1.42
Publication status	Published - 1997

Keywords

Medullary thyroid carcinoma
Multiple endocrine neoplasia (MEN) 2A
RET proto-oncogene

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10.1093/jjco/27.1.42

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Yamashita, T., Iihara, M., Okamoto, J., Kanbe, M., Ito, Y., Kawakami, M., Egawa, S. I., Yamaguchi, K., & Obara, T. (1997). Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report. Japanese Journal of Clinical Oncology, 27(1), 42-45. https://doi.org/10.1093/jjco/27.1.42

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title = "Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report",

abstract = "Multiple endocrine neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. It has recently been shown to be associated with germ-line mutations in the RET proto-oncogene. We describe a 21-year-old man from a MEN 2A family who was found by DNA analysis to be a gene carrier of MEN 2A and then was diagnosed, using a stimulated calcitonin test, as having presymptomatic medullary thyroid carcinoma. His morbidity seems to have been cured by total thyroidectomy as postoperative calcitonin levels after stimulation are normal. It is concluded that direct genetic analysis for mutations in the RET proto-oncogene should be the diagnostic test of choice for identifying family members at risk for MEN 2A.",

keywords = "Medullary thyroid carcinoma, Multiple endocrine neoplasia (MEN) 2A, RET proto-oncogene",

author = "Tomoyuki Yamashita and Masatoshi Iihara and Joji Okamoto and Masako Kanbe and Yukio Ito and Makio Kawakami and Egawa, {Shin Ichi} and Ken Yamaguchi and Takao Obara",

note = "Funding Information: This work was supported in part by a Grant-in-Aid from the Ministry of Health and Welfare, Japan, for the second-term comprehensive 10-year strategy for cancer control.",

year = "1997",

doi = "10.1093/jjco/27.1.42",

language = "English",

volume = "27",

pages = "42--45",

journal = "Japanese Journal of Clinical Oncology",

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}

Yamashita, T, Iihara, M, Okamoto, J, Kanbe, M, Ito, Y, Kawakami, M, Egawa, SI, Yamaguchi, K & Obara, T 1997, 'Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report', Japanese Journal of Clinical Oncology, vol. 27, no. 1, pp. 42-45. https://doi.org/10.1093/jjco/27.1.42

Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report. / Yamashita, Tomoyuki; Iihara, Masatoshi; Okamoto, Joji et al.
In: Japanese Journal of Clinical Oncology, Vol. 27, No. 1, 1997, p. 42-45.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations

T2 - A Case Report

AU - Yamashita, Tomoyuki

AU - Iihara, Masatoshi

AU - Okamoto, Joji

AU - Kanbe, Masako

AU - Ito, Yukio

AU - Kawakami, Makio

AU - Egawa, Shin Ichi

AU - Yamaguchi, Ken

AU - Obara, Takao

N1 - Funding Information: This work was supported in part by a Grant-in-Aid from the Ministry of Health and Welfare, Japan, for the second-term comprehensive 10-year strategy for cancer control.

PY - 1997

Y1 - 1997

N2 - Multiple endocrine neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. It has recently been shown to be associated with germ-line mutations in the RET proto-oncogene. We describe a 21-year-old man from a MEN 2A family who was found by DNA analysis to be a gene carrier of MEN 2A and then was diagnosed, using a stimulated calcitonin test, as having presymptomatic medullary thyroid carcinoma. His morbidity seems to have been cured by total thyroidectomy as postoperative calcitonin levels after stimulation are normal. It is concluded that direct genetic analysis for mutations in the RET proto-oncogene should be the diagnostic test of choice for identifying family members at risk for MEN 2A.

AB - Multiple endocrine neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. It has recently been shown to be associated with germ-line mutations in the RET proto-oncogene. We describe a 21-year-old man from a MEN 2A family who was found by DNA analysis to be a gene carrier of MEN 2A and then was diagnosed, using a stimulated calcitonin test, as having presymptomatic medullary thyroid carcinoma. His morbidity seems to have been cured by total thyroidectomy as postoperative calcitonin levels after stimulation are normal. It is concluded that direct genetic analysis for mutations in the RET proto-oncogene should be the diagnostic test of choice for identifying family members at risk for MEN 2A.

KW - Medullary thyroid carcinoma

KW - Multiple endocrine neoplasia (MEN) 2A

KW - RET proto-oncogene

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AN - SCOPUS:0031066181

SN - 0368-2811

VL - 27

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EP - 45

JO - Japanese Journal of Clinical Oncology

JF - Japanese Journal of Clinical Oncology

IS - 1

ER -

Treatment of Minute Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasia 2A Families First Diagnosed by DNA Analysis of RET Proto-Oncogene Mutations: A Case Report

Abstract

Keywords

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