The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma
| Autor: | Bruno Niederle, Christian Scheuba, Martin Lauss, Albert Kriegner, Oskar A. Haas, Klemens Vierlinger, Klaus Kaserer, Andreas Weinhaeusel |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Calcitonin Male endocrine system medicine.medical_specialty Endocrinology Diabetes and Metabolism medicine.medical_treatment Thyroid Gland Single-nucleotide polymorphism Gastroenterology Polymorphism Single Nucleotide Thyroid carcinoma Endocrinology Germline mutation Sex Factors Gene Frequency Internal medicine medicine Humans Thyroid Neoplasms Follicular thyroid cancer Aged Hyperplasia business.industry Proto-Oncogene Proteins c-ret Thyroidectomy Age Factors Middle Aged medicine.disease C-Cell Hyperplasia Carcinoma Medullary Histopathology Female business |
| Zdroj: | Thyroid : official journal of the American Thyroid Association. 18(12) |
| ISSN: | 1557-9077 |
| Popis: | Background RET germline mutations predispose to the development of hereditary medullary thyroid carcinoma (hMTC). Several single nucleotide polymorphisms (SNPs) are described associated with sporadic MTC (sMTC). However, the findings regarding their influence on the clinical course and biological behavior of this disorder are discordant. To clarify the contradictory findings, we studied the association of certain SNPs considering age, gender, and histopathology in a large Austrian cohort with C-cell hyperplasia (CCH) and MTC. Methods Genotyping of SNPs located in RET codons 691, 769, 836, and 904 from 199 patients with MTC and CCH (basal calcitonin > 10 pg/mL, pentagastrin stimulated > 100 pg/mL) was performed, and the results were analyzed considering gender, age at diagnosis, and histopathology. Results No significant difference of SNP frequencies was found in the study patients versus normal controls. In sMTC and sporadic CCH (sCCH) no significant association of SNP frequency with the age at diagnosis was found. In patients with sporadic C-cell disease (sCCH and sMTC), 3.7 times more males than females suffered synchronously from papillary or follicular thyroid cancer (20/97 [20.6%] males; 3/54 [5.6%] females; p = 0.02). sCCH was revealed more frequently in males (89/97, 91.7%) than in females (27/54, 50%; p = 10(-8)). In contrast to males, the ratio of CCH to total C-cell disease was significantly higher in females with hereditary (26/32, 81%) compared to those with sporadic disease (27/54, 50%; p = 0.006). Conclusions In this study RET SNPs had no clinical impact on the development of sporadic C-cell disease when the age of diagnosis or gender is considered. C-cell disease seems to predispose males to the development of papillary and follicular thyroid cancer. In addition, at least in females with CCH RET germline mutation, screening is recommended even if the family history is negative for MTC. |
| Databáze: | OpenAIRE |
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