Abstract
A 61-year-old woman with BRCA2 pathogenic variant had been treated for 20 years and showed dynamic changes in the genomic profile of her metachronous bilateral breast cancer and metastases. She underwent right breast conservation surgery at age 42-Genome 1, lung metastasis and left axillary lymph node metastasis at age 51, partial excision under local anesthesia for left breast cancer at age 53-Genome 2, left axillary lymph node dissection was added 6 month later-Genome 3. Then, olaparib was administered, and subsequently, left mastectomy was performed for the recurrence of left breast cancer at age 59-Genome 4. Genomic profile of the tumor was analyzed at four points (Genome 1–3 were analyzed by in house breast cancer panel, and Genome 4 was analyzed by Foundation One CDx). Two interesting findings emerged from these analyses. First, the genomic profile revealed that the left axillary lymph node metastasis, considered histologically from right breast cancer, was a metastasis from the left breast cancer. The second finding is that as the disease progressed, mutation profile became more diverse. The profile of the left breast cancer removed after olaparib and other treatments showed reversion mutation of BRCA2 and was diagnosed as tumor mutation burden high. Subsequent response to pembrolizumab was favorable.
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Acknowledgements
We would like to thank all members who have contributed to the data collection and especially for support for CGP analysis by Ritsuko Yokouchi and Shiho Sato.
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AK, HN, and TO contributed to writing the manuscript, AK, HN, MI, and TO served as attending physicians of the presented patient. YH, KA, and HM contributed to analyze genome profiling and MO supervised this project.
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Kimura, A., Nakagomi, H., Inoue, M. et al. Dynamic change of cancer genome profiling in metachronous bilateral breast cancer with BRCA pathogenic variant. Int Canc Conf J (2024). https://doi.org/10.1007/s13691-024-00685-3
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DOI: https://doi.org/10.1007/s13691-024-00685-3