Abstract
This is the first case report of the outcomes of systemic chemotherapy in a patient with locally advanced renal squamous cell carcinoma, a rare tumor, as well as the first next generation sequencing study of this rare tumor. The patient's main symptoms were fever and low back pain. Initial positron emission tomography and computed tomography (PET-CT) suggested a malignant renal tumor at onset, but biopsy confirmed renal squamous cell carcinoma. Next generation sequencing showed a low level of microsatellite instability (MSI-L), a high tumor mutational burden (TMB-H), a high neoantigen burden (TNB-H), and a strong loss of heterozygosity (LOH) for human leukocyte antigen (HLA), with 67 deleterious mutations. The patient achieved partial radiological remission after a cycle of systemic chemotherapy with albumin-bound paclitaxel combined with nedaplatin. After radical resection of the left renal tumor, postoperative pathology confirmed complete tumor remission and tumor-like xanthogranulomatous pyelonephritis. Conclusion: This renal squamous cell carcinoma patient responded to systemic chemotherapy with paclitaxel combined with platinum, providing a reference for the future treatment of similar cases. Pathology and gene sequencing indicated that renal squamous cell carcinoma occurred in a background of active inflammation and that the tumor evolved immune escape mechanisms such as loss of HLA heterozygosity, with gene repair defects and TMB-H.