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Hereditary syndromes and RCC: what radiologists need to know.

Charlotte Charbel1, Samuel J Withey2, Eva Serrao3

  • 1Department of Radiology, New York University, New York, USA. charlotte.charbel@nyulangone.org.

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Summary

This review details seven hereditary renal cell carcinoma (RCC) syndromes, highlighting their genetic basis, clinical features, and diagnostic challenges. Early recognition by radiologists aids genetic evaluation and personalized patient care for hereditary kidney cancer.

Keywords:
BAP1 tumor predisposition syndromeBirt-Hogg-Dubé syndromeHereditary leiomyomatosis and renal cell cancerHereditary papillary renal carcinomaHereditary paraganglioma/Pheochromocytoma syndromeHereditary renal cell carcinomaKidneySuccinate dehydrogenase-deficient renal cell cancerTuberous sclerosis complexVon Hippel-Lindau

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Area of Science:

  • Oncology
  • Genetics
  • Radiology

Background:

  • Hereditary renal cell carcinoma (RCC) comprises 5-8% of all kidney cancers.
  • Seven hereditary RCC syndromes are recognized by the National Comprehensive Cancer Network.
  • These syndromes include Tuberous Sclerosis Complex (TSC), Von Hippel-Lindau (VHL), and others.

Purpose of the Study:

  • To provide a comprehensive overview of the seven recognized hereditary RCC syndromes.
  • To detail the inheritance, epidemiology, and clinicopathologic features of associated RCCs.
  • To discuss radiographic diagnostic challenges and the role of radiologists.

Main Methods:

  • Literature review of hereditary RCC syndromes.
  • Analysis of inheritance patterns, epidemiology, and clinicopathologic features.
  • Discussion of radiographic differentiation challenges in specific syndromes.

Main Results:

  • Detailed descriptions of seven hereditary RCC syndromes (TSC, VHL, HLRCC, HPRC, BHDS, SDH-deficient RCC, BAP1-TPDS).
  • Identification of radiographic challenges in diagnosing RCC within these syndromes.
  • Emphasis on the crucial role of radiologists in early identification and management.

Conclusions:

  • Radiologists are key in identifying hereditary RCC syndromes through characteristic imaging patterns.
  • Early recognition facilitates timely genetic evaluation and tailored management strategies.
  • Advances in radiogenomics and AI offer future potential for improved diagnosis and personalized care.