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Dominant chromosomal abnormalities in breast cancer metastasis to CNS as compared with systemic metastasis demonstrated by liquid biopsy.

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This study aims to evaluate chromosomal abnormalities in breast cancer metastasis to the CNS using liquid biopsy.
Liquid biopsy performed on CSF and PB samples with next generation sequencing of cfDNA and RNA.
RNA sequencing used a panel of almost 1600 genes, while DNA sequencing analyzed 302 genes.
339 CSF samples and 279 PB samples were tested for chromosomal abnormalities.
82.1% of positive CSF samples showed chromosomal structural abnormalities (P<0.0001 compared to PB).
1q gain was the most common abnormality, detected in 42.8% of CSF samples and 18.5% of PB samples.
Higher variant allele frequency in mutations was found in CSF samples (P=0.0001).

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Randomized trial examines chromosomal abnormalities in breast cancer CNS metastasis, suggesting unique biological characteristics.

Albitar et al. (2026) studied this question.

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