Molecular characterization of cerebrospinal fluid tumor cells associated with leptomeningeal carcinomatosis

Leptomeningeal carcinomatosis (LC) is a devastating and lethal complication of systemic cancer involving the spread of tumor cells to the meninges and the cerebrospinal fluid (CSF). Efforts focused on molecular analysis of CSF tumor cells (or CSFTCs) are scarce; hence, the biology of these cells remains poorly understood. Our group recently reported a study on molecular characterization of CSFTCs from metastatic breast cancer patients diagnosed with LC. Genomic and gene expression analyses revealed molecular profiles consistent with the malignant nature of CSFTCs. More importantly, we observed a clear clonal-relationship between CSFTCs and corresponding primary tumors as demonstrated by high concordance of genome-wide copy number profiles.