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Imaging approaches for the diagnosis of genetic diseases affecting the female reproductive organs and beyond

  • Miki Yoshida,
  • Tsukasa Saida,
  • Toshitaka Ishiguro,
  • Masafumi Sakai,
  • Saki Shibuki,
  • Shun Kagaya,
  • Yoshiki Fujihara,
  • Kensaku Mori,
  • Toyomi Satoh,
  • Takahito Nakajima

摘要

This review aims to provide an overview of neoplastic lesions associated with genetic diseases affecting the female reproductive organs. It seeks to enhance our understanding of the radiological aspects in diagnosing genetic diseases including hereditary breast and ovarian cancer syndromes, Lynch syndrome, Peutz-Jeghers syndrome, nevoid basal cell carcinoma syndrome, and Swyer syndrome, and explores the patterns and mechanisms of inheritance that require elucidation. Additionally, we discuss the imaging characteristics of lesions occurring in other regions due to the same genetic diseases.

Graphical abstract