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Short report
Paediatric ovarian tumours and their associated cancer susceptibility syndromes
  1. Catherine Goudie1,
  2. Leora Witkowski2,
  3. Stephanie Vairy3,
  4. W Glenn McCluggage4,
  5. William D Foulkes5
  1. 1 Department of Pediatrics, Division of Haematology-Oncology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
  2. 2 Department of Pathology, Brigham & Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA
  3. 3 Department of Pediatrics, Division of Haematology-Oncology, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada
  4. 4 Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK
  5. 5 Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
  1. Correspondence to Dr William D Foulkes, Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec H4A 3J1, Canada; william.foulkes{at}


Non-epithelial ovarian tumours are rare neoplasms that occasionally arise in childhood and adolescence. They can be associated with various cancer susceptibility syndromes. The morphological overlap seen across these tumours and their rarity can make the diagnosis challenging. In the case of an incorrect diagnosis, the underlying genetic susceptibility may be missed. In this review, we outline the genetic background of ovarian non-epithelial tumours arising in children, emphasizing the genes harbouring pathogenic germline variants associated with each tumour type. Specifically, juvenile granulosa cell tumours, Sertoli-Leydig cell tumours, sex cord tumours with annular tubules, Sertoli cell tumours, germ cell tumours and small cell carcinoma of the ovary of hypercalcaemic type are discussed in this review. For each tumour type, we detail the personal and family history features and the presenting characteristics of the ovarian tumour as well as the pathological features and molecular markers that point towards a cancer predisposition syndrome. Throughout, we stress the need for specialised pathological review in difficult cases.

  • ovarian tumour
  • cancer predisposition syndrome
  • cancer genetics
  • pediatric oncology

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  • CG and LW are the co-first authors.

  • Contributors CG, LW and SV: implicated in all aspects of this review and cowrote the manuscript;. WGMC: creation of the figures, revision of the manuscript draft;. WDF: review conception and revision of manuscript draft.

  • Funding WDF acknowledges the funding support of the Canadian Institutes of Health Research (FDN: 148390). CG’s research was generously funded by a grant from the Cedars Cancer Foundation and the Montreal Children’s Hospital Foundation.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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