100-Year evolution of precision medicine and surgery for multiple endocrine neoplasia type 2A
| Autor: | Malik Elwerr, Andreas Machens, Frank Weber, Kerstin Lorenz, Henning Dralle |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
endocrine system diseases business.industry Endocrinology Diabetes and Metabolism medicine.medical_treatment Thyroid Thyroidectomy Medizin 030209 endocrinology & metabolism RET proto-oncogene medicine.disease Penetrance Surgery Pheochromocytoma 03 medical and health sciences 0302 clinical medicine Endocrinology medicine.anatomical_structure 030220 oncology & carcinogenesis Diabetes mellitus Medicine business Multiple endocrine neoplasia Primary hyperparathyroidism |
| Popis: | To determine whether published disease penetrance estimates of 50% for pheochromocytoma and 20–30% for primary hyperparathyroidism in multiple endocrine neoplasia (MEN 2A), conceivably reflecting overrepresentation of index patients with completely developed MEN 2A, may be too high. Cross-sectional study of carriers at high risk of MEN 2A from a tertiary referral center. There were 213 carriers of RET mutations in codon 634, born between 1922 and 2014. Median age of thyroidectomy was 17 years, with MTC being present in 76.5%; pheochromocytoma in 31.0% at a median of 34 years in the first, and in 18.8% at a median of 35 years in the second adrenal; and primary hyperparathyroidism in 10.8% at a median of 39 years. MTC, pheochromocytoma and primary hyperparathyroidism, stratified by year of birth, were diagnosed earlier over time: for MTC from 51 to 4 years; for pheochromocytoma from 51 to 22.5 years in the first, and from 51 to 29.5 years in the second adrenal, and for primary hyperparathyroidism from 46 to 12 years (P ≤ 0.008). This decline in age was paralleled by diminishing tumor diameters, more strongly in the thyroid (from 20 to 1.8 mm; P |
| Databáze: | OpenAIRE |
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