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 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

Hereditary Breast & Ovarian Cancer (BRCA1/2)

• Ovarian CA risk very high (BRCA1 > BRCA2)
• Early: small solid or mixed adnexal masses
• Advanced: ascites + peritoneal carcinomatosis
• Screening: TVUS + CA-125 (limited, but only option)

Peutz–Jeghers Syndrome (STK11)

• Cervix: MDA / LEGH / gastric-type adenoca
• MRI: multicystic mass + solid components
• Ovaries: SCTAT (small, bilateral, solid)
• Endometrial CA risk ↑
• Annual pelvic US from age 18–20

Cowden Syndrome (PTEN)

• Endometrial CA risk ↑↑
• US/MRI: endometrial thickening or mass
• Many uterine fibroids common
• Consider TVUS in postmenopausal patients
• Look for thyroid + breast + skin findings

HLRCC (FH)

• Uterine leiomyomas: large, numerous, early age (<30)
• MRI: T2 hypointense, heterogeneous, cystic/hemorrhagic areas
• Possible association with LMS
• Renal tumors: aggressive, early metastasis → annual MRI

DICER1 Syndrome (DICER1)

• Ovarian Sertoli-Leydig tumors (solid ± cystic)
• Often <30 yrs, virilization or estrogenic symptoms
• Cervical embryonal rhabdomyosarcoma (kids/teens)
• Biannual abdominopelvic US to age 40

Li-Fraumeni (TP53)

• Ovarian carcinoma (HGSC)
• MRI/CT: solid-cystic masses + peritoneal disease
• Uterine LMS possible
• Whole-body MRI annually

SCCOHT (SMARCA4)

• Very young women (~20s)
• Large unilateral solid ovarian mass
• Hypercalcemia common (PTHrP-mediated)
• MRI/CT: solid enhancement ± necrosis
• Aggressive; suggest testing for SMARCA4

Key Takeaways for Radiology Residents

• Always link gene → tumor → imaging pattern
• Many syndromic tumors present younger than sporadic cases
• Small, solid adnexal masses deserve high suspicion in hereditary settings
• TVUS = key screening tool for many syndromes
• MRI = best for characterization + differentiating benign vs malignant
• Radiologists should trigger genetic evaluation when imaging fits a syndrome