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Master Thesis

Leptoméningites carcinomateuses de cancer du sein : analyse génomique d’une cohorte rétrospective

Abstract : Background. This retrospective study explored a cohort breast cancer patient with leptomeningeal metastases (LM) who participated in a molecular tumor screening program. This is the largest cohort of breast cancer patients with LM whose tumor molecular profile has been established to date. Methods. Clinicopathological data were extracted for 22 breast cancer patients with LM who underwent molecular screening (PROFILER01 (NCT01774409) or SAFIR02_Breast (NCT02299999)). Clinical outcomes were reported using Kaplan-Meier and compared using log-rank test. Genomic alterations were compared to three breast cancer databases from https://www.cbioportal.org/ (INSERM, PLoS Med 2016; METABRIC, Nature 2012 & Nat Commun 2016; MSK, Cancer Cell 2018). Results. Median time to death from first metastasis diagnosis was 23.4 months (95% CI 15.5-48.3) and median time to death from LM diagnosis was 1.7 months (95% CI 0.8-3.7). MYC (12/22; 54.5%), FGFR1 (6/22; 27.3%), and CCND1 (7/22; 31.8%) were amplified. In HR+/HER- (13/22), both FGFR1 and CCND1 were amplified in 38.5% of cases (5/13). In triple negative breast cancer (TNBC) (9/22), MYC was amplified in 77.8% of cases (7/9). BRCA1 or 2 deficiency (6/22; 27.3%) and MYC amplification were found in higher rate when compared to MBC selected databases. Conclusion. MYC, FGFR1, CCND1 amplification and BRCA 1/2 deficiencies were frequent genomic alterations in MBC with LM. Targeted screening for asymptomatic LM at risk of developing LM based on these alterations could improve overall survival by allowing the use of all treatment options prior to neurological impairment.
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Master Thesis
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Submitted on : Wednesday, June 30, 2021 - 2:06:19 PM
Last modification on : Friday, July 2, 2021 - 3:27:58 AM
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Louis Larrouquère. Leptoméningites carcinomateuses de cancer du sein : analyse génomique d’une cohorte rétrospective. Médecine humaine et pathologie. 2020. ⟨dumas-03266163⟩

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