Yoon Acacia H, Tse Justin R
Menlo-Atherton High School, Atherton, CA, 94027, USA.
Department of Radiology, Stanford University, Stanford, CA, 94305, USA.
Abdom Radiol (NY). 2025 Feb;50(2):794-806. doi: 10.1007/s00261-024-04534-y. Epub 2024 Sep 5.
Hereditary renal mass syndromes, although rare, account for at least 3-5% of kidney cancers and significantly impact affected families. Accurate diagnosis and management by radiologists are crucial as these syndromes often present at imaging with both renal and extra-renal manifestations. The radiologist may be the first to recognize these stigmata at imaging, some of which satisfy major features for diagnosis and obviate the need for genetic testing. Furthermore, radiologists contribute to lifelong imaging surveillance and locoregional treatment. This pictorial review discusses the following major hereditary renal mass syndromes with their typical renal mass appearance, extrarenal manifestations, inheritance pattern, diagnosis, and management strategies based on the most recent National Comprehensive Cancer Network guidelines: Von Hippel-Lindau syndrome, tuberous sclerosis complex, Birt-Hogg-Dube syndrome, hereditary paraganglioma/pheochromocytoma (PGL/PCC) syndrome/succinate dehydrogenase deficiency, hereditary leiomyomatosis and renal cell cancer (HLRCC)/fumarate hydratase deficiency, PTEN hamartoma syndrome, BRCA1-associated protein 1 (BAP1) tumor disposition syndrome, hereditary papillary renal cell carcinoma, and familial clear cell renal cell cancer with chromosome 3 translocation.
遗传性肾肿块综合征虽然罕见，但至少占肾癌的3% - 5%，并对受影响的家庭产生重大影响。放射科医生进行准确的诊断和管理至关重要，因为这些综合征在影像学上常表现为肾脏和肾外表现。放射科医生可能是在影像学上首先识别出这些特征的人，其中一些特征满足诊断的主要标准，从而无需进行基因检测。此外，放射科医生还参与终身影像学监测和局部治疗。本图谱综述根据美国国立综合癌症网络最新指南，讨论以下主要遗传性肾肿块综合征及其典型的肾肿块表现、肾外表现、遗传模式、诊断和管理策略：冯·希佩尔 - 林道综合征、结节性硬化症复合体、Birt - Hogg - Dube综合征、遗传性副神经节瘤/嗜铬细胞瘤（PGL/PCC）综合征/琥珀酸脱氢酶缺乏症、遗传性平滑肌瘤病和肾细胞癌（HLRCC）/延胡索酸水合酶缺乏症、PTEN错构瘤综合征、BRCA1相关蛋白1（BAP1）肿瘤易感性综合征、遗传性乳头状肾细胞癌以及伴有3号染色体易位的家族性透明细胞肾细胞癌。
