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<p>The molecularly defined renal cell carcinomas (RCC) are named based on characteristic molecular alterations or familial predisposition syndromes, which were usually diagnosed at advanced stages and contribute significantly to renal cancer-related mortality. The diagnosis of molecularly defined renal cancer relies on advanced histological experiments, thus reliable preoperative prediction can reduce unnecessary costs. We reviewed the literature about the molecularly defined RCCs to summarize radiological features, that could assist in preoperative diagnosis. Currently some specific imaging features could help assist in diagnosing molecularly defined RCCs, for example magnetic resonance spectroscopy for fumarate hydratase–deficient RCC. However, current research is based on small sample sizes, and we need larger cohorts for analysis in the future.</p>

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Imaging characteristics of rare renal cell carcinoma subtypes: diagnostic challenges and clinical implications

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月24日

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  • Chunlei He,
  • Enyu Yuan,
  • Jin Yao,
  • Yuntian Chen,
  • Bin Song

摘要

The molecularly defined renal cell carcinomas (RCC) are named based on characteristic molecular alterations or familial predisposition syndromes, which were usually diagnosed at advanced stages and contribute significantly to renal cancer-related mortality. The diagnosis of molecularly defined renal cancer relies on advanced histological experiments, thus reliable preoperative prediction can reduce unnecessary costs. We reviewed the literature about the molecularly defined RCCs to summarize radiological features, that could assist in preoperative diagnosis. Currently some specific imaging features could help assist in diagnosing molecularly defined RCCs, for example magnetic resonance spectroscopy for fumarate hydratase–deficient RCC. However, current research is based on small sample sizes, and we need larger cohorts for analysis in the future.