Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation

Karuna Garg, Anthony Karnezis, Joseph T. Rabban

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations


The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling. Patients additionally benefit from diagnosis of an inherited syndrome because many also carry a lifetime risk for developing primary malignancies outside of the gynaecological tract. Early diagnosis of an inherited syndrome permits early screening, detection, and management of additional malignancies associated with the syndrome. This review highlights these rare syndromes and their tumour pathology, including Peutz–Jeghers syndrome (gastric type mucinous carcinoma of the cervix; ovarian sex cord tumour with annular tubules); hereditary leiomyoma renal cell carcinoma syndrome (uterine leiomyoma); tuberous sclerosis complex (uterine PEComa; uterine lymphangioleiomyomatosis); DICER1 syndrome (ovarian Sertoli–Leydig cell tumour; cervical embryonal rhabdomyosarcoma); rhabdoid tumour predisposition syndrome 2 (small cell carcinoma of the ovary, hypercalcaemic type); Cowden syndrome (endometrial endometrioid adenocarcinoma); naevoid basal cell carcinoma syndrome (ovarian fibroma); and Von Hippel–Lindau syndrome (clear cell papillary cystadenoma of the broad ligament).

Original languageEnglish (US)
Pages (from-to)238-256
Number of pages19
Issue number2
StatePublished - Feb 1 2018
Externally publishedYes


  • germline mutation
  • Hereditary gynaecological tumours

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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