Microsatellite Instability in Sporadic Parathyroid Adenoma1
| Autor: | Marta Sarquis, Adalberto F. Dias, Eitan Friedman, W. L. Boson, Ricardo Santiago Gomez, Luiz De Marco |
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| Rok vydání: | 2000 |
| Předmět: |
Genome instability
medicine.medical_specialty Pathology Adenoma Endocrinology Diabetes and Metabolism Biochemistry (medical) Clinical Biochemistry Microsatellite instability Biology medicine.disease_cause medicine.disease Malignancy Biochemistry Endocrinology Internal medicine medicine Microsatellite DNA mismatch repair Carcinogenesis Parathyroid adenoma |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 85:250-252 |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jcem.85.1.6370 |
| Popis: | Parathyroid adenomas are usually benign uniglandular tumors, and inactivation of several tumor suppressor genes, notably the MEN 1 gene, or activation of oncogenes have been implicated in the tumorigenesis. Genomic instability, indicative of the involvement of DNA mismatch repair genes, has not been previously described in parathyroid adenomas. A single large parathyroid adenoma was resected from an 8.5-yr-old Brazilian patient with no personal or family history of other endocrinopathies. Analysis of paired tumor-nontumor DNA using 23 microsatellite markers, located on chromosomes 1, 10, and 11 was carried out. Microsatellite instability was detected in nine markers (D1S191, D1S212, D1S413, D1S2848, RET, D11S901, D11S903, INSR, and INT2), whereas no allelic loss was detected with any of the analyzed markers. Immunohistochemical analysis of retinoblastoma protein expression revealed low levels of expression, but no histopathological signs of malignancy. We conclude that in this single, apparently sporadic parathyroid adenoma, DNA mismatch repair genes might be involved in parathyroid tumorigenesis. |
| Databáze: | OpenAIRE |
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