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This retrospective study explored a cohort of metastatic breast cancer (MBC) patients with leptomeningeal disease (LMD) who participated in a molecular screening program on tissue samples (primary tumor or metastasis). Clinicopathological data were extracted for 22 MBC patients with LMD who underwent molecular screening (PROFILER01 (NCT01774409) or SAFIR02Breast (NCT02299999) ). Clinical outcomes were reported using the Kaplan-Meier method and compared using the log-rank test. Genomic alterations were then compared with three breast cancer databases on https: //www. cbioportal. org/ (INSERM, PLoS Med 2016; METABRIC, Nature 2012 MSK, Cancer Cell 2018), focusing on MBC. The median time to death from diagnosis of the first metastasis was 23. 4 months (95% CI 15. 5-43. 8) and the median time to death from diagnosis of LMD was 1. 7 months (95% CI 0. 8-3. 7). Molecular screening unveiled amplification of MYC (12/22; 54. 5%), FGFR1 (6/22; 27. 3%), and CCND1 (7/22; 31. 8%). In hormone receptor-positive and HER2-negative breast cancers (13/22), FGFR1 and CCND1 were amplified in 38. 5% of cases (5/13), and in triple-negative breast cancers (9/22), MYC was amplified in 77. 8% of cases (7/9). BRCA1 or 2 deficiency (6/22; 27. 3%) and MYC amplification were greater in LMD MBC patients than in other MBC patient databases. MYC, FGFR1, CCND1 amplification, and BRCA 1/2 deficiencies are frequent genomic alterations in MBC with LMD. Targeted screening of MBC at risk of developing LMD based on these alterations could enable earlier diagnosis, before severe neurological impairment, and allow the use of more therapeutic options.
Larrouquère et al. (Wed,) studied this question.