Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to ribociclib plus letrozole in a patient with metastatic breast cancer Journal Article

   

Authors:	Silveira, C.; Sousa, A. C.; Corredeira, P.; Martins, M.; Sousa, A. R.; Da Cruz Paula, A.; Selenica, P.; Brown, D. N.; Golkaram, M.; Kaplan, S.; Zhang, S.; Liu, L.; Weigelt, B.; Reis-Filho, J. S.; Costa, L.; Carmo-Fonseca, M.
Article Title:	Comprehensive genomic profiling of cell-free circulating tumor DNA detects response to ribociclib plus letrozole in a patient with metastatic breast cancer
Abstract:	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. © 2022 by the authors.
Keywords:	genetics; mutation; case report; mastectomy; aromatase inhibitor; pathology; breast neoplasms; tumor marker; breast tumor; genomics; letrozole; metastatic breast cancer; aromatase inhibitors; humans; human; female; circulating tumor dna; ribociclib; liquid biopsy; biomarkers, tumor; ribociclib plus letrozole; circulating cell-free dna
Journal Title:	Biomolecules
Volume:	12
Issue:	12
ISSN:	2218-273X
Publisher:	MDPI
Date Published:	2022-12-01
Start Page:	1818
Language:	English
DOI:	10.3390/biom12121818
PUBMED:	36551247
PROVIDER:	scopus
PMCID:	PMC9775495
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85144536531&doi=10.3390%2fbiom12121818&partnerID=40&md5=76cefbb643788a36867c5075caaae0e0
Notes:	Article -- Export Date: 3 January 2023 -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/201722