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一例原发性肾鳞状细胞癌患者化疗后完全病理缓解的病例报告。

A case report of complete pathological remission after chemotherapy in a patient with primary renal squamous cell carcinoma.

作者信息

Yu Haiming, Yu Lan, Li Jinying, Wang Yu, Liu Li, Zhang Xiaotao, Han Xiaona, Cheng Xi

机构信息

Day Ward of Chemotherapy, Qingdao Central Hospital, Qingdao, China.

出版信息

Transl Androl Urol. 2021 Feb;10(2):997-1005. doi: 10.21037/tau-20-1483.

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.

摘要

这是首例关于局部晚期肾鳞状细胞癌(一种罕见肿瘤)患者全身化疗结果的病例报告,也是该罕见肿瘤的首例二代测序研究。患者的主要症状为发热和腰痛。初始正电子发射断层扫描和计算机断层扫描(PET-CT)显示起病时为恶性肾肿瘤,但活检确诊为肾鳞状细胞癌。二代测序显示微卫星不稳定性水平低(MSI-L)、肿瘤突变负荷高(TMB-H)、新抗原负荷高(TNB-H)以及人类白细胞抗原(HLA)杂合性缺失严重(LOH),有67个有害突变。患者在接受白蛋白结合型紫杉醇联合奈达铂的全身化疗一个周期后实现了部分影像学缓解。左肾肿瘤根治性切除术后,术后病理证实肿瘤完全缓解以及肿瘤样黄色肉芽肿性肾盂肾炎。结论:该肾鳞状细胞癌患者对紫杉醇联合铂类的全身化疗有反应,为未来类似病例的治疗提供了参考。病理和基因测序表明,肾鳞状细胞癌发生于活跃炎症背景下,且肿瘤演化出了免疫逃逸机制,如HLA杂合性缺失、基因修复缺陷和TMB-H。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/155d/7947427/e31f785361fa/tau-10-02-997-f1.jpg

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