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Published on: March 30, 2015
Hereditary Renal Cell Carcinoma: An Imaging Update
Mindy X Wang1, Mahmoud Diab2, Albert R Klekers1
1Department of Abdominal Imaging, Division of Diagnostic Imaging, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Unit 1473, Houston, TX 77030, USA.
Hereditary renal cancer syndromes, linked to genetic mutations, necessitate early detection and surveillance using advanced imaging. This review details genetic links, imaging findings, and screening guidelines for hereditary kidney cancer.
Area of Science:
- Oncology
- Genetics
- Radiology
Background:
- Hereditary renal cancer syndromes are rare but cause early-onset kidney cancer.
- Germline mutations in tumor suppressor genes drive these syndromes.
- Von Hippel-Lindau, Birt-Hogg-Dubé, and hereditary papillary RCC are key examples.
Purpose of the Study:
- To review genetic associations of hereditary renal cell carcinoma (RCC) syndromes.
- To outline key imaging features for diagnosis and surveillance.
- To present current recommendations for screening and management.
Main Methods:
- Literature review focusing on genetic mutations, imaging characteristics, and surveillance protocols.
- Analysis of current diagnostic and management guidelines for hereditary RCC.
- Synthesis of information on MR imaging and computed tomography in hereditary RCC.
Main Results:
- Hereditary RCC syndromes are associated with specific germline mutations.
- Imaging plays a vital role in early detection, characterization, and monitoring.
- Multidisciplinary care is crucial for personalized patient management.
Conclusions:
- Understanding genetic links and imaging findings is key for hereditary RCC.
- Vigilant surveillance using MR imaging and CT is essential.
- Adherence to updated screening and management guidelines improves outcomes.
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