| Autor: |
Catarina Silveira, Ana Carla Sousa, Patrícia Corredeira, Marta Martins, Ana Rita Sousa, Arnaud Da Cruz Paula, Pier Selenica, David N. Brown, Mahdi Golkaram, Shannon Kaplan, Shile Zhang, Li Liu, Britta Weigelt, Jorge S. Reis-Filho, Luís Costa, Maria Carmo-Fonseca |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Biomolecules, Vol 12, Iss 12, p 1818 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2218-273X |
| DOI: |
10.3390/biom12121818 |
| Popis: |
Analysis of cell-free circulating tumor DNA obtained by liquid biopsy is a non-invasive approach that may provide clinically actionable information when conventional tissue biopsy is inaccessible or infeasible. Here, we followed a patient with hormone receptor-positive and human epidermal growth factor receptor (HER) 2-negative breast cancer who developed bone metastases seven years after mastectomy. We analyzed circulating cell-free DNA (cfDNA) extracted from plasma using high-depth massively parallel sequencing targeting 468 cancer-associated genes, and we identified a clonal hotspot missense mutation in the PIK3CA gene (3:178952085, A > G, H1047R) and amplification of the CCND1 gene. Whole-exome sequencing revealed that both alterations were present in the primary tumor. After treatment with ribociclib plus letrozole, the genetic abnormalities were no longer detected in cfDNA. These results underscore the clinical utility of combining liquid biopsy and comprehensive genomic profiling to monitor treatment response in patients with metastasized breast cancer. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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