Department of Radiology, Memorial Sloan Kettering Cancer Center, 300 E 66th St #1407, NY, 10065, New York, USA.
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Cancer Imaging. 2021 Feb 19;21(1):24. doi: 10.1186/s40644-021-00392-9.
Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a subtype of RCC that is increasingly recognized pathologically. The aim of this study was to evaluate the imaging features of FH-RCC on computed tomography (CT), magnetic resonance imaging (MRI), and fluorodeoxyglucose positron emission tomography (FDG PET), and to determine the pre-operative diagnostic potential of imaging.
This single-site retrospective study included patients with histologically confirmed FH-RCC or with a renal cancer and known germline FH mutation; imaging of the renal mass before treatment with contrast-enhanced CT, contrast-enhanced MRI, or FDG PET/CT between October 2007 and May 2019. Clinical information, pathological data, and imaging features were analyzed and reported descriptively.
Sixteen patients with sixteen tumors were included (median age 46 years, interquartile range 38-53 years; 31 % female). Almost all tumors were unifocal (15/16, 94 %). Most tumors had infiltrative margins (14/16, 88 %); few were circumscribed (2/16, 12 %). A large cystic tumor component (> 75 % of tumor volume) was seen in 8/16 (50 %) of tumors. Involvement of renal sinus fat was seen in 13/16 (81 %) of tumors, involvement of the hilar collecting system in 8/16 (50 %), and renal vein tumor thrombus in 6/16 (38 %). All 12 tumors (100 %) imaged with MRI had heterogenous tumor enhancement and heterogenous T2 signal. Of those patients that had diffusion-weighted imaging, 11/11 (100 %) of tumors had diffusion restriction in the solid portions of the tumor. Of the patients who had PET, 3/3 (100 %) tumors showed high metabolic activity with mean maximum standardized uptake value (SUV) of 16.4 (range 9.6-21.9). Patients presented with retroperitoneal nodal metastases in 69 % of cases and distant metastases in 75 %. Of those four patients without metastatic disease at presentation, three (75 %) developed metastases within 4 years of diagnosis.
In our study, the majority of tumors (≥ 75 %) were unifocal, had an infiltrative margin, invaded the renal sinus fat, and presented with distant metastases. On MRI, most tumors had heterogenous T2 signal and diffusion restriction in their solid components. The small number of cases that had PET imaging showed high metabolic activity.
琥珀酸脱氢酶缺陷型肾细胞癌（FH-RCC）是一种越来越被病理认可的 RCC 亚型。本研究旨在评估 CT、MRI 和 FDG PET 上 FH-RCC 的影像学特征，并确定影像学的术前诊断潜力。
本单站点回顾性研究纳入了经组织学证实为 FH-RCC 或患有肾癌且已知种系 FH 突变的患者；2007 年 10 月至 2019 年 5 月期间，在治疗前对肾脏肿块进行了增强 CT、增强 MRI 或 FDG PET/CT 检查。分析并描述了临床信息、病理数据和影像学特征。
本研究纳入了 16 例 16 个肿瘤患者（中位年龄 46 岁，四分位间距 38-53 岁；31%为女性）。几乎所有肿瘤均为单发（15/16，94%）。大多数肿瘤边缘呈浸润性（14/16，88%）；少数为边界清楚的（2/16，12%）。8/16（50%）的肿瘤具有较大的囊性肿瘤成分（>75%的肿瘤体积）。13/16（81%）的肿瘤累及肾盂脂肪，8/16（50%）累及肾门收集系统，6/16（38%）累及肾静脉肿瘤血栓。所有 12 例（100%）接受 MRI 检查的肿瘤均表现为不均匀强化和不均匀 T2 信号。在接受扩散加权成像的患者中，11/11（100%）例肿瘤的实性部分存在弥散受限。接受 PET 检查的 3 例（100%）肿瘤均显示高代谢活性，最大标准化摄取值（SUV）平均为 16.4（范围 9.6-21.9）。69%的患者有腹膜后淋巴结转移，75%的患者有远处转移。在初诊时无转移疾病的 4 例患者中，3 例（75%）在诊断后 4 年内发生了转移。
在我们的研究中，大多数肿瘤（≥75%）为单发，边缘呈浸润性，侵犯肾盂脂肪，并伴有远处转移。在 MRI 上，大多数肿瘤的 T2 信号不均匀，实性部分弥散受限。少数接受 PET 检查的病例显示高代谢活性。
