Abstract
RET codon 609 point mutations are rare and may predispose to aggressive medullary thyroid carcinoma (MTC). In a kindred with 15 carriers of the Cys609Ser RET mutation we observed no MTC before 17 years of age, no lymph node metastases before 30 years and no distant metastases before 60 years. Two patients developed pheochromocytoma and one had primary hyperparathyroidism as the first sign of the syndrome. In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adrenal Gland Neoplasms / genetics*
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Adrenal Gland Neoplasms / pathology
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Adrenal Gland Neoplasms / physiopathology
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Adult
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Female
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Humans
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Hyperparathyroidism / genetics*
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Hyperparathyroidism / pathology
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Hyperparathyroidism / physiopathology
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Male
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Middle Aged
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Multiple Endocrine Neoplasia Type 2a / genetics*
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Multiple Endocrine Neoplasia Type 2a / pathology
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Multiple Endocrine Neoplasia Type 2a / physiopathology
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Pedigree
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Penetrance
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Pheochromocytoma / genetics*
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Pheochromocytoma / pathology
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Pheochromocytoma / physiopathology
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Point Mutation
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Proto-Oncogene Proteins c-ret / genetics*
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Thyroid Neoplasms / genetics*
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Thyroid Neoplasms / pathology
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Thyroid Neoplasms / physiopathology
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Young Adult
Substances
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Proto-Oncogene Proteins c-ret
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RET protein, human