Radiologic features of fumarate hydratase-deficient renal cell carcinoma

Qiao XIE; Guojiao ZUO; Ping CAI; Guangjie DUAN; Xiaoming LI

doi:10.16016/j.2097-0927.202305024

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Radiologic features of fumarate hydratase-deficient renal cell carcinoma

Clinical Medicine | 更新时间：2026-01-09

- Radiologic features of fumarate hydratase-deficient renal cell carcinoma
- Journal of Army Medical University Vol. 45, Issue 19, Pages: 2081-2084(2023)
- 作者机构：
  
  1.400038 重庆，陆军军医大学(第三军医大学)第一附属医院：放射科
  2.400038 重庆，陆军军医大学(第三军医大学)第一附属医院：病理科
- 作者简介：
- 基金信息：
- DOI：10.16016/j.2097-0927.202305024
  CLC： R730.2;R730.44;R737.11
- Received：07 May 2023，
  
  Revised：2023-05-30，
  
  Published：15 October 2023
- 稿件说明：
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Qiao XIE, Guojiao ZUO, Ping CAI, et al. Radiologic features of fumarate hydratase-deficient renal cell carcinoma[J]. Journal of Army Medical University, 2023, 45(19): 2081-2084.
DOI：

Qiao XIE, Guojiao ZUO, Ping CAI, et al. Radiologic features of fumarate hydratase-deficient renal cell carcinoma[J]. Journal of Army Medical University, 2023, 45(19): 2081-2084. DOI： 10.16016/j.2097-0927.202305024.

摘要

目的

探讨延胡索酸水合酶缺陷型肾细胞癌(fumarate hydratase-deficient renal cell carcinoma，FH-RCC)的临床和影像学特征，旨在提高临床对本病的认识。

方法

回顾性分析本院2020-2022年经手术病理确诊为FH-RCC患者的临床信息、病理数据和影像学特征，并进行描述性报告。

结果

纳入经病理证实的FH-RCC患者6例(8个肿瘤)，其中男性4例，女性2例，年龄27~48岁。影像学检查结果显示：62.5%(5/8)病灶为囊实性，37.5%(3/8)病灶为纯实性；1例病灶MRI呈混杂信号，DWI上病灶实性成分弥散受限；增强扫描71.4%(5/7)病灶实性部分呈渐进性强化；75.0%(6/8)侵犯肾窦，其中1例同时侵犯肾上腺，66.7%(4/6)首次检查发现腹膜后淋巴结转移。6例患者均行手术切除治疗，随访2~21(6.8±7.8)个月，66.7%(4/6)出现转移。

结论

FH-RCC影像学多表现为囊实性占位，囊壁菲薄，增强后实性部分呈渐进性强化。

Abstract

Objective

To investigate the clinical and imaging features of fumarate hydratase-deficient renal cell carcinoma (FH-RCC) in order to improve clinical understandings of this disease.

Methods

A retrospective study was conducted on all pathologically confirmed FH-RCC patients in our hospital from 2020 to 2022. Their clinical information

pathological data and imaging features were collected and analyzed with descriptive study.

Results

There were 6 pathologically confirmed FH-RCC patients (8 tumors) enrolled

and they were 4 males and 2 females

at an age of 27~48 year. Imaging Results showed that 62.5% (5/8) tumors were cystic solid lesions and 37.5% (3/8) were pure solid lesions. One lesion showed mixed signal on MRI and limited diffusion of the solid component of the lesion on diffusion-weighted imaging. Enhanced scanning displayed 71.4% (5/7) had progressive enhancement of the solid portion of the lesion

and 75.0% (6/8) had invasion of the renal sinus

including 1 case with simultaneous invasion of the adrenal gland. Retroperitoneal lymph node metastasis was 66.7% (4/6) cases on first examination. All 6 patients were treated with surgical resection

and 66.7% (4/6) had metastases at 2 to 21 (6.8±7.8) months of follow-up.

Conclusion

Radiological features of FH-RCC were mainly cystic solid occupancy with a thin cystic wall and progressive enhancement of the solid part after contrast enhancements.

关键词

Keywords

references

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