Role of somatic mutations and chromosomal aberrations in the prognosis of uveal melanoma in a Spanish patient cohort
| Autor: | Daniel Fernandez-Diaz, Lourdes Loidi, Manuel F. Bande, María Pardo, Nerea Lago-Baameiro, María José Blanco-Teijeiro, Fernando Domínguez, Paula Silva-Rodríguez, Antonio Piñeiro |
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| Rok vydání: | 2020 |
| Předmět: |
Oncology
Adult Male Uveal Neoplasms medicine.medical_specialty Time Factors DNA Copy Number Variations Somatic cell DNA Mutational Analysis Disease 03 medical and health sciences 0302 clinical medicine Internal medicine Medicine Humans Copy-number variation Survival rate Gene Melanoma Aged Retrospective Studies Aged 80 and over Chromosome Aberrations BAP1 business.industry Incidence Tumor Suppressor Proteins General Medicine DNA Neoplasm Middle Aged medicine.disease Prognosis Ophthalmology Chromosome 3 Spain Mutation 030221 ophthalmology & optometry Female business Ubiquitin Thiolesterase 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Acta ophthalmologicaReferences. 99(7) |
| ISSN: | 1755-3768 |
| Popis: | Background Uveal melanoma (UM) has a high tendency to cause liver metastases. Metastatic disease is fatal, with a low survival rate. There are two large groups of UMs that, according to their risk of metastatic disease, can be divided into risk subgroups based on histopathological, cytogenetic and molecular characteristics. The presence of somatic mutations in certain genes may explain the origin and prognosis of these tumours. Methods Forty-six UM samples previously classified as high or low metastatic risk according to chromosome 3 copy number status were tested for somatic mutations. A multi-gene targeting strategy was adopted, and sequencing was performed using AmpliSeq technology. Results Mutations were found in all major UM-related genes. BAP1 mutations confer an increased risk of metastases in high-risk tumours; thus, this gene acts as a strong prognostic predictor in UM. The presence of somatic mutations in LZTS1 did not show significant differences in the risk of metastases. Conclusions This result supports the idea that exploring mutations and copy number variations in UM provides insights into patient outcomes. Genetic tests allow the determination of accurate personalized molecular profiles with a fundamental prognostic purpose. |
| Databáze: | OpenAIRE |
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