Abstract
We conducted a large-scale nation-wide questionnaire survey to ascertain the status of familial medullary thyroid carcinoma (MTC) in Japan in 2002. Out of a total of 271 MTC cases (male to female ratio 1:1.4), multiple endocrine neoplasia (MEN) 2A accounted for 83 cases (30.6%), familial MTC (FMTC) for 14 cases (5.1%), MEN for 11 cases (4.1%), and sporadic MTC for 163 cases (60.1%). Mean age at the time of diagnosis was 35.6 in MEN2A, 34.6 in FMTC, 30.5 in MEN2B, and 47.6 in sporadic MTC. Forty-five percent of MEN2A patients had pheochromocytoma and 11% of MEN2A patients had parathyroid disorders when MTC was diagnosed. Finally, the RET oncogene test yielded the largest number of initial findings that led to diagnosis of familial MTC.
MeSH terms
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Adrenal Gland Neoplasms / epidemiology
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Adrenal Gland Neoplasms / genetics
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Adult
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Carcinoma, Medullary / epidemiology*
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Carcinoma, Medullary / genetics*
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Female
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Humans
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Japan
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Male
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Middle Aged
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Multiple Endocrine Neoplasia Type 2a / epidemiology
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Multiple Endocrine Neoplasia Type 2a / genetics
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Multiple Endocrine Neoplasia Type 2b / epidemiology
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Multiple Endocrine Neoplasia Type 2b / genetics
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Oncogene Proteins / genetics
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Parathyroid Diseases / epidemiology
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Parathyroid Diseases / genetics
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Pheochromocytoma / epidemiology
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Pheochromocytoma / genetics
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Proto-Oncogene Proteins c-ret
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Proto-Oncogenes
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Receptor Protein-Tyrosine Kinases / genetics
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Thyroid Neoplasms / epidemiology*
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Thyroid Neoplasms / genetics*
Substances
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Oncogene Proteins
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Proto-Oncogene Proteins c-ret
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RET protein, human
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Receptor Protein-Tyrosine Kinases