Table 1

Features of paediatric ovarian tumours and their associated syndromes

Ovarian tumourCommon age of onsetRelated CPS (gene)% of cases associated with a CPS*Features that increase the likelihood of a CPSOther CPS-related tumours
Juvenile granulosa cell tumour6–13Ollier disease†
Maffucci syndrome†
LowP: Enchondromas (bony protuberances, skeletal angular deformities), haemangiomas
F: N/A
T: Unknown
Chondrosarcoma, brain tumours (glioma)
Sex cord tumour with annular tubules10–30Peutz-Jeghers syndrome (STK11)
25% de novo
High:
30%–35%
P: Younger age of onset, GI polyps, mucocutaneous hyperpigmented macules
F: GI polyps, colorectal/gonadal/breast cancer, mucocutaneous hyperpigmented macules, large calcifying Sertoli tumours in males
T: Bilateral, multifocal, small/microscopic tumours, microcalcifications
Mucinous ovarian and fallopian tube neoplasms and minimal deviation adenocarcinoma, GI polyps, colorectal cancer, cervical cancer, breast cancer, pancreatic carcinoma
Sertoli cell tumour20–30Peutz-Jeghers syndrome (STK11)
25% de novo
LowP: Younger age of onset, GI polyps, mucocutaneous hyperpigmented macules
F: GI polyps, colorectal/gonadal/breast cancer, mucocutaneous hyperpigmented macules, large calcifying Sertoli tumours in males
T: Sertoli tumour of oxyphilic and lipid-rich subtypes
Gonadoblastoma15–19 WT1-related disorders—high de novo rate
  • Frasier (WT1—intron 9 donor splice-site)

  • Denys-Drash (WT1—missense mutations in exon 8 or 9)

  • WAGR (11p13 deletion)

ModerateP: Genitourinary tract structural malformations, aniridia, Wilms tumour, gonadal dysgenesis, renal parenchymal disease (FSGS or mesangial sclerosis)
F: Wilms tumour, end stage renal failure/dialysis in young relative
T: Bilateral tumours
Wilms tumour‡, early onset progressive nephropathy (Frasier=focal and segmental glomerular sclerosis; Denys-Drash=mesangial sclerosis)
Sex chromosome aneuploidy disorders
Sertoli-Leydig cell tumour15–30DICER1 syndrome (DICER1) High: >50%P+F: DICER1-associated neoplasms, younger age of onset
T: Bilateral tumours
MNG, PPB, ERMS (cervical/ovarian), cystic nephroma, CBME, DTC, ASK, pineoblastoma, NCMH, PitB
SCCOHT18–35RTPS2 (SMARCA4)
Low de novo rate
High: >30%P: Young age of onset
F: SCCOHT
Rhabdoid tumour (ATRT and extracranial MRT)
  • *Low: <1%, Moderate: 1%–25%, High: >25%.

  • †IDH1 and IDH2 somatic mosaic mutations described in enchondromas and haemangiomas of these patients.

  • ‡Bilateral Wilms tumour and stromal-predominant histology increase the likelihood of a WT1 germline variant.

  • ASK, anaplastic sarcoma of the kidney; ATRT, atypical teratoid rhabdoid tumour; CBME, ciliary body medulloepithelioma; CPS, cancer predisposition syndrome; DTC, differentiated thyroid carcinoma; ERMS, embryonal rhabdomyosarcoma; F, family; FSGS, focal segmental glomerular sclerosis; GI, gastrointestinal; MNG, multinodular goitre; MRT, malignant rhabdoid tumour; P: patient; PitB, pituitary blastoma; PPB, pleuropulmonary blastoma; RTPS2, rhabdoid predisposition syndrome type 2; SCCOHT, small cell carcinoma of the ovary of hypercalcaemic type.