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Genotype-phenotype correlation in multiple endocrine neoplasia type 2
| Content Provider | Semantic Scholar |
|---|---|
| Author | Raue, F. Frank-Raue, Karin |
| Copyright Year | 2012 |
| Abstract | Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10. It has a strong penetrance of medullary thyroid carcinomas and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism. Multiple endocrine neoplasia type 2 is divided into three varieties depending on its clinical features: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma. The specific rearranged during transfection mutation may suggest a predilection toward a particular phenotype and clinical course of medullary thyroid carcinoma, with strong genotype-phenotype correlations. Offering rearranged during transfection testing is the best practice for the clinical management of patients at risk of developing multiple endocrine neoplasia type 2, and multiple endocrine neoplasia type 2 has become a classic model for the integration of molecular medicine into patient care. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on the classification of rearranged during transfection mutations into risk levels according to genotype-phenotype correlations. Earlier identification of patients with hereditary medullary thyroid carcinoma can change the presentation from clinical tumor to preclinical disease, resulting in a high cure rate of affected patients and a much better prognoses. |
| Starting Page | 69 |
| Ending Page | 75 |
| Page Count | 7 |
| File Format | PDF HTM / HTML |
| PubMed reference number | 22584709v1 |
| Volume Number | 67 |
| Journal | Clinics |
| Alternate Webpage(s) | http://www.revistas.usp.br/clinics/article/download/19724/21788 |
| Alternate Webpage(s) | http://ftp.ncbi.nlm.nih.gov/pub/pmc/6f/23/cln-67-s1-69.PMC3328821.pdf |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Adenomatous Polyposis Coli Adrenal Medulla Chromosomes, Human, Pair 10 Endocrine Gland Neoplasms Endocrine System Diseases Forecast of outcome Hereditary Malignant Neoplasm Hyperparathyroidism Hyperparathyroidism, Primary Medullary carcinoma of thyroid Molecular Medicine Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2a Multiple Endocrine Neoplasia Type 2b Multiple endocrine neoplasia Type 2 Mutation Neoplastic Syndromes, Hereditary Oncogenes Patients Penetrance Pheochromocytoma Protein Tyrosine Kinase Proto-Oncogenes RET gene Receptor Protein-Tyrosine Kinases Thyroid Diseases Thyroid carcinoma Thyroidectomy |
| Content Type | Text |
| Resource Type | Article |
