Gynecologic Manifestations of Hereditary Syndromes
A practical radiology review of Gynecologic Manifestations of Hereditary Syndromes, focused on imaging findings, differential diagnosis, reporting points, and high-yield...
RadPhrases Editorial Team2 min read
A practical radiology review of Gynecologic Manifestations of Hereditary Syndromes, focused on imaging findings, differential diagnosis, reporting points, and high-yield teaching pearls.
General Principles
- Hereditary syndromes = ↑ risk of gynecologic malignancies
- Imaging often provides first clue
- Know gene → tumor type → imaging pattern
- Radiologists should suggest genetic testing when imaging fits syndrome
Lynch Syndrome (MLH1/MSH2/MSH6/PMS2/EPCAM)
- Endometrial CA = most common; often lower uterine segment
- US: endometrial thickening; Doppler ↑ vascularity
- MRI: T2 intermediate, hypoenhancing, restricted diffusion
- Ovarian CA: mixed cystic/solid masses
- Suggest LS in younger (<50) patients with LUS tumors
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