Genomic Insights Into Early Relapsed Breast Cancer: Prognostic Challenges and Mutation Landscape.

Purpose: Early relapsed breast cancer, characterized by recurrence within two years post-surgery, often results from drug resistance and rapid progression. The clinicopathological, prognostic and molecular features of these patients still await exploration.

Methods: In this study, 43 patients with early relapsed breast cancer were included as well as 42 advanced breast cancer patients who experienced a recurrence after two years since surgery as the control group. Clinicopathological factors and prognosis were compared among the two groups, and tumor tissue from 27 available early relapsed patients was subjected to genetic sequencing.

Results: Compared with the control group, early relapsed group exhibited more aggressive malignant biological characteristics, shorter median overall survival (27.8 vs 49.8 months, P=0.005) and lower objective response rate for the first line treatment (42.90% vs 86.8%, P<0.001). Genetic sequencing of 27 early relapsed breast cancer demonstrated with TP53 (52%), PIK3CA (22%), and MLL3 (19%) as the top three frequently mutated genes, suggesting potential therapeutic targets for personalized treatment strategies.

Conclusion: Early relapsed breast cancer patients demonstrated poor prognosis and treatment response, indicating a reagent need of effective treatment combination for disease control. Genetic sequencing may identify potential therapeutic targets, providing new therapeutic opportunities for such patients. These findings underline the urgent need for personalized therapeutic strategies informed by genetic profiling to improve outcomes for early-relapsed breast cancer patients.