Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter
| Autor: | Paolo Miccoli, Anna Perri, Massimo Tonacchera, Paolo Vitti, Patrizia Agretti, Luca Chiovato, Giovanni Ceccarini, Veronica Rosellini, Antonio Giuseppe Naccarato, Paolo Viacava, Aldo Pinchera |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adenoma
Adult Male endocrine system medicine.medical_specialty Pathology Goiter endocrine system diseases Endocrinology Diabetes and Metabolism Clinical Biochemistry Biology medicine.disease_cause Biochemistry Hyperthyroidism Thyrotropin receptor Endocrinology Thyroid-stimulating hormone Internal medicine medicine GTP-Binding Protein alpha Subunits Gs Humans Point Mutation Thyroid Neoplasms Mutation Hyperplasia Point mutation Biochemistry (medical) Thyroid Receptors Thyrotropin Middle Aged medicine.disease Neoplasm Proteins medicine.anatomical_structure Female Goiter Nodular |
| Zdroj: | The Journal of clinical endocrinology and metabolism. 85(6) |
| ISSN: | 0021-972X |
| Popis: | Toxic multinodular goiter, a heterogeneous disease producing hyperthyroidism, is frequently found in iodine-deficient areas. The pathogenesis of this common clinical entity is still unclear. The aim of the present study was to search for activating TSH receptor (TSHr) or Gs alpha mutations in areas of toxic or functionally autonomous multinodular goiters that appeared hyperfunctioning at thyroid scintiscan but did not clearly correspond to definite nodules at physical or ultrasonographic examination. Surgical tissue specimens from nine patients were carefully dissected, matching thyroid scintiscan and thyroid ultrasonography, to isolate hyperfunctioning and nonfunctioning areas even if they did not correspond to well-defined nodules. TSHr and Gs alpha mutations were searched for by direct sequencing after PCR amplification of genomic DNA. Only 2 adenomas were identified at microscopic examination, whereas the remaining 18 hyperfunctioning areas corresponded to hyperplastic nodules containing multiple aggregates of micromacrofollicules not surrounded by a capsule. Activating TSHr mutations were detected in 14 of these 20 hyperfunctioning areas, whereas no mutation was identified in nonfunctioning nodules or areas contained in the same gland. No Gs alpha mutation was found. In conclusion, activating TSHr mutations are present in the majority of nonadenomatous hyperfunctioning nodules scattered throughout the gland in patients with toxic or functionally autonomous multinodular goiter. |
| Databáze: | OpenAIRE |
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