Journal
ESMO OPEN
Volume 2, Issue 4, Pages -Publisher
ELSEVIER
DOI: 10.1136/esmoopen-2017-000253
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Funding
- European Community's Seventh Framework Programme [602901]
- H2020 [635342-2]
- IMI [115749]
- AIRC Special Program Molecular Clinical Oncology 5 per mille [9970]
- AIRC IG [16788]
- Fondazione Piemontese per la Ricerca sul Cancro-ONLUS 5 per mille Ministero della Salute
- Fondazione Piemontese per la Ricerca sul Cancro-ONLUS 5 per mille
- AIRC
- NCI [R03CA187094-01]
- NCI Cancer Center [P30 CA008748]
- Breast Cancer Research Foundation
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Background Central nervous system (CNS) involvement contributes to significant morbidity and mortality in patients with human epidermal growth factor receptor 2 (HER2)-positive metastatic breast cancer (mBC) and represents a major challenge for clinicians. Liquid biopsy of cerebrospinal fluid (CSF)-derived circulating tumour DNA (ctDNA) harbours clinically relevant genomic alterations in patients with CNS metastases and could be effective in tracking tumour evolution. Methods In a HER2-positive mBC patient with brain metastases, we applied droplet digital PCR (ddPCR) and next-generation whole exome sequencing (WES) analysis to measure ctDNA dynamic changes in CSF and plasma collected during treatment. Results Baseline CSF-derived ctDNA analysis revealed TP53 and PIK3CA mutations as well as ERBB2 and cMYC amplification. Post-treatment ctDNA analysis showed decreased markers level in plasma, consistent with extra-CNS disease control, while increased in the CSF, confirming poor treatment benefit in the CNS. Discussion Analysis of ctDNA in the CSF of HER2-positive mBC is feasible and could represent a useful companion for clinical management of brain metastases.
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