Multidisciplinary consultation on difficult cases in Urology of the Guangdong Medical Association (Phase 16): a case of fumarate hydratase deficient advanced renal cell carcinomay

doi:10.3877/cma.j.issn.1674-3253.2024.04.019

Abstract

Abstract:

This article reports a case of fumarate hydratase(FH) deficient advanced renal cell carcinoma. The patient presented to Nanfang Hospital of Southern Medical University due to "recurrent fever and diagnosed with right renal carcinoma with multiple systemic metastases for more than 4 months". The PET-CT scan showed a mass in the right kidney, multiple nodules in the left upper lobe and right lower lobe of the lung, multiple enlarged lymph nodes in the mediastinum and bilateral pulmonary hilum, with abnormal fluorode-oxyglucose metabolism. The diagnosis considered malignant tumor of the right kidney with lung, mediastinal, and lymph node metastases. Pathological examination from right renal puncture suggested papillary renal cell carcinoma. Genetic testing revealed a variant gene (FHp.P177fs). After two cycles of "Sunitinib" targeted anti-tumor therapy in the external hospital, the patient was referred to our department for further treatment. Considering the severe condition of the patient with right renal carcinoma and multiple systemic metastases of the preoperative paraneoplastic syndrome, a multidisciplinary consultation on urological tumors was conducted and the patient underwent robot-assisted laparoscopic tumor-reducing right nephrectomy. Postoperative pathology confirmed renal cell carcinoma, consistent with FH-deficient type. After multidisciplinary consultation on difficult cases of urological surgery by the Guangdong Provincial Medical Association, experts considered the patient was diagnosed FH-deficient type advanced renal cell carcinoma, postoperative targeted combined immunotherapy was recommended. After targeted treatment combined with three courses of immunotherapy, reexamination showed disappearance or significant reduction of metastatic lesions. Therefore, for metastatic advanced non-clear cell carcinoma of kidney, the overall comprehensive treatment effect is worse than that of clear cell renal cell carcinoma, and tumor-reducing surgery combined with postoperative targeted combined immunotherapy can be considered.

Key words: Advanced renal cell carcinoma, Fumarate hydratase, Targeted therapy, Immunotherapy

Fei Li, Zaosong Zheng, Peng Wu, Wanlong Tan. Multidisciplinary consultation on difficult cases in Urology of the Guangdong Medical Association (Phase 16): a case of fumarate hydratase deficient advanced renal cell carcinomay[J]. Chinese Journal of Endourology(Electronic Edition), 2024, 18(04): 410-414.

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