Fumarate hydratase-deficient renal cell carcinoma in kidney transplant patients: one case report and literature review

Yueming WANG; Qiang MA; Gaolei LIU; Xiao ZHONG; Yao ZHANG; Weihua LAN; Jun JIANG; Zehua SHU

doi:10.16016/j.2097-0927.202211139

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Fumarate hydratase-deficient renal cell carcinoma in kidney transplant patients: one case report and literature review

Clinical Medicine | 更新时间：2026-01-09

- Fumarate hydratase-deficient renal cell carcinoma in kidney transplant patients: one case report and literature review
- Journal of Army Medical University Vol. 45, Issue 13, Pages: 1436-1440(2023)
- 作者机构：
  
  1.400042 重庆，陆军特色医学中心：泌尿外科
  2.400042 重庆，陆军特色医学中心：病理科
- 作者简介：
- 基金信息：
- DOI：10.16016/j.2097-0927.202211139
  CLC： R617;R737.11
- Received：18 November 2022，
  
  Revised：2022-12-21，
  
  Published：15 July 2023
- 稿件说明：
移动端阅览
Yueming WANG, Qiang MA, Gaolei LIU, et al. Fumarate hydratase-deficient renal cell carcinoma in kidney transplant patients: one case report and literature review[J]. Journal of Army Medical University, 2023, 45(13): 1436-1440.
DOI：

Yueming WANG, Qiang MA, Gaolei LIU, et al. Fumarate hydratase-deficient renal cell carcinoma in kidney transplant patients: one case report and literature review[J]. Journal of Army Medical University, 2023, 45(13): 1436-1440. DOI： 10.16016/j.2097-0927.202211139.

摘要

目的

探讨肾移植术后延胡索酸水合酶缺陷型肾细胞癌的临床特征，提高该疾病的临床诊治水平。

方法

本研究为回顾性研究，选取2022年3月陆军特色医学中心泌尿外科经治的1例肾移植术后延胡索酸水合酶缺陷型肾细胞癌患者作为研究对象，收集其临床资料，包括临床特点、治疗方案和预后，并复习国内外文献，针对该病例的特点进行分析和总结。

结果

患者女性，年龄52岁，20年前接受肾移植，诊断为右侧原肾肾癌伴远处转移，后接受减瘤性肾切除术，病理诊断为延胡索酸水合酶缺陷型肾细胞癌(根据2022版WHO肾脏肿瘤分类的修正诊断)。术后予以靶向药物治疗后因血肌酐升高停药，病情进展。

结论

延胡索酸水合酶缺陷型肾细胞癌进展快、预后差，诊断依赖免疫组化及基因检测。目前肾移植术后的肾癌缺乏有效的治疗手段，针对此类患者应选择个体化治疗方案。

Abstract

Objective

To investigate the clinical characteristics of fumarate hydratase-deficient renal cell carcinoma (FH-RCC) in kidney transplant patients so as to improve the diagnosis and treatment of the disease clinically.

Methods

We retrospectively analyzed and summarized the clinical data of one kidney transplanted patient with FH-RCC who was treated in the urological department of our medical center in March 2022

including clinical characteristics

treatment and prognosis. A literature review was also performed to analyze and summarize its characteristics.

Results

A 52-year-old female patient who received a kidney transplant 20 years ago was diagnosed with right kidney cancer with multiple metastases. Cytoreductive nephrectomy was performed and pathological type was FH-RCC based on Revised Version of WHO 2022 Classification of Renal Tumors. She then received targeted therapy until discontinuation due to elevated serum creatinine and the disease progressed rapidly.

Conclusion

FH-RCC is characterized by rapid progress and poor prognosis. Its diagnosis relies on immunohistochemistry and genetic test. There are no currently standard-of-care treatment options for kidney transplant patients with renal cell carcinoma. Individualized treatment regimens should be suggested for these patients.

关键词

Keywords

references

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