Abstract
Preliminary results of treatment of inherited medullary thyroid carcinoma, diagnosed primarily with genetic analysis of mutation of protooncogene RET are presented. Among 16 carriers of mutation identical with mutation diagnosed earlier in proband, there were 4 patients with clinically obvious medullary thyroid carcinoma and 12 asymptomatic carriers. In all patients, in whom calcitonin level was increased preoperatively, its normalization was obtained. The paper summarizes these aspects of cooperation between geneticians and physicians in which diagnostic results influence clinical decisions (indication and time of thyroid and lymph nodes surgery and it's spectrum, range of diagnostic procedures towards pheochromocytoma and parathyroid hyperplasia in relation to the found mutation).
MeSH terms
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Adolescent
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Adrenal Gland Neoplasms / diagnosis
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Adrenal Gland Neoplasms / genetics
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Adult
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Calcitonin / analysis
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Carcinoma, Medullary / diagnosis
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Carcinoma, Medullary / genetics*
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Carcinoma, Medullary / therapy
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Child
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Drosophila Proteins*
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Heterozygote
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Humans
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Mutation*
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Parathyroid Diseases / diagnosis
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Parathyroid Diseases / genetics
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Pheochromocytoma / diagnosis
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Pheochromocytoma / genetics
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Proto-Oncogene Mas
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Proto-Oncogene Proteins / genetics*
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Proto-Oncogene Proteins c-ret
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Receptor Protein-Tyrosine Kinases / genetics*
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Thyroid Neoplasms / diagnosis
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Thyroid Neoplasms / genetics*
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Thyroid Neoplasms / therapy
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Thyroidectomy
Substances
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Drosophila Proteins
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MAS1 protein, human
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Proto-Oncogene Mas
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Proto-Oncogene Proteins
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Calcitonin
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Proto-Oncogene Proteins c-ret
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Receptor Protein-Tyrosine Kinases
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Ret protein, Drosophila