Genetics and clinicopathological findings in thyroid carcinomas associated with familial adenomatous polyposis
| Autor: | Maria Rosa Pelizzo, M. C. Curia, F. Cetta, Alfonso Barbarisi |
|---|---|
| Přispěvatelé: | Cetta, F, Pelizzo, Mr, Curia, Mc, Barbarisi, Alfonso |
| Jazyk: | angličtina |
| Rok vydání: | 1999 |
| Předmět: |
endocrine system
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty endocrine system diseases Tumor suppressor gene Genotype Oncogene Proteins Fusion Adenomatous polyposis coli medicine.disease_cause Pathology and Forensic Medicine Familial adenomatous polyposis Thyroid carcinoma Germline mutation Carcinoma Medicine Animals Humans Thyroid Neoplasms neoplasms Genetics Mutation biology business.industry Thyroid Protein-Tyrosine Kinases medicine.disease medicine.anatomical_structure Phenotype Adenomatous Polyposis Coli biology.protein Cancer research Commentary business |
| Zdroj: | Scopus-Elsevier |
| Popis: | The recent paper by Soravia et al 1 describes two kindreds with thyroid carcinoma associated with familial adenomatous polyposis (FAP). The former included three and the latter two FAP siblings with papillary thyroid carcinoma (PTC). The patients had a germline mutation of APC, the tumor suppressor gene responsible for FAP, 2 at codons 698 and 313, respectively, and activation of ret/PTC, a chimeric gene that is restricted to the papillary histotype, 3 in the thyroid tumoral tissue of three out of three subjects. Interestingly, ret/PTC was always found as its most frequent isoform, ret/PTC1. 3 This commentary discusses the issues of PTC as an extracolonic manifestation that is integral to FAP, genotype-phenotype correlations, the presence or absence of somatic mutations of the APC gene in the thyroid tumoral tissue, ret/PTC activation, possible cooperation among genes, histological significance of molecular alterations, and the natural history of these particular tumors. |
| Databáze: | OpenAIRE |
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