Successful Drug Therapy Initiation Via Cancer Genome Profiling in Primary Cancer with Bone Metastasis of Unknown Origin
Cancer of unknown primary (CUP) with bone metastasis poses significant diagnostic and therapeutic challenges. This case report focuses on the successful application of cancer comprehensive genomic profiling (CGP) in guiding treatment. This study included an 81-year-old female who presented with severe lumbago and functional impairment due to bone metastases. The biopsy findings confirmed the malignancy, but the primary tumor site remained unidentified. The CGP findings revealed a high tumor mutational burden (TMB) of 17 Muts/Mb, leading to the indication of pembrolizumab therapy. After 18 cycles, a significant improvement in bone metastases with no adverse events was observed. Furthermore, this case emphasizes the utility of CGP in identifying actionable targets as well as the transformative potential of immunotherapy in CUP management.
