Cargando…

Detection of microsatellite instability high (MSI-H) status by targeted plasma-based genotyping in metastatic breast cancer

We evaluate microsatellite instability-high (MSI-H) status with cell-free DNA (cfDNA) in metastatic breast cancer (MBC) and the association with clinico-genomic characteristics. Patients with MSI-H in cfDNA (Guardant360(®), 74 gene next-generation sequencing (NGS) with MBC are identified. We conduct...

Descripción completa

Detalles Bibliográficos
Autores principales: Vidula, Neelima, Lipman, Andrew, Kato, Shumei, Weipert, Caroline, Hesler, Katherine, Azzi, Georges, Elkhanany, Ahmed, Juric, Dejan, Rodriguez, Estelamari, Faulkner, Colleen, Makhlouf, Paul, Price, Kristin, O’Shaughnessy, Joyce, Bardia, Aditya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636209/
https://www.ncbi.nlm.nih.gov/pubmed/36333333
http://dx.doi.org/10.1038/s41523-022-00490-2
Descripción
Sumario:We evaluate microsatellite instability-high (MSI-H) status with cell-free DNA (cfDNA) in metastatic breast cancer (MBC) and the association with clinico-genomic characteristics. Patients with MSI-H in cfDNA (Guardant360(®), 74 gene next-generation sequencing (NGS) with MBC are identified. We conduct a retrospective review. The median number of alterations and a median maximum mutant allelic fraction (MAF) in MSI-H and non-MSI-H cohorts are compared with Mann–Whitney U-test. Of 6718 patients with breast cancer with ≥1 plasma NGS alteration, 42 (0.63%) have MSI-H. A median number of genomic alterations per sample is 11 in MSI-H vs. 3 in non-MSI-H (Mann–Whitney U-test p < 0.0001) and the median maximum MAF is 16.8% in MSI-H vs. 2.6% in non-MSI-H (Mann–Whitney U-test p < 0.0001). The co-existing genomic landscape is heterogeneous. The median response duration for seven patients receiving immunotherapy is 92 days (range 29–273 days). CfDNA can identify MSI-H in MBC. Research is needed to validate immunotherapy usage in cfDNA-detected MSI-H MBC.