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

Abdom Radiol (NY). 2024 May;49(5):1664-1676. doi: 10.1007/s00261-024-04260-5. Epub 2024 Mar 28.

Abstract

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.

Keywords: Gene; Hereditary; Inheritance; Ovary; Tumor; Uterus.

Publication types

  • Review

MeSH terms

  • Diagnostic Imaging / methods
  • Female
  • Genetic Diseases, Inborn* / diagnostic imaging
  • Genital Diseases, Female / diagnostic imaging
  • Genitalia, Female / diagnostic imaging
  • Humans