Table 1

Tumours in individuals screened for constitutional DICER1 mutations

Tumour typeNo of casesNo with DICER1 mutation
Lung tumours
 Pleuropulmonary blastoma1411
 Congenital lung cyst1
Sex cord stromal tumours
 Testicular Sertoli–Leydig/Sertoli/Leydig tumour11
 Ovarian Sertoli–Leydig tumour63
 Ovarian granulosa cell tumour6
 Gonadal stromal cell tumour unclassified5
 Mixed stromal cell tumour1
 Stromal sex cord tumour unclassified11
Renal tumours
 Wilms tumour2431*
 Cystic nephroma32
 Clear cell sarcoma3
Central nervous system tumours
 Medulloblastoma/infratentorial PNET841
Eye tumours
 Medulloepithelioma (dictyoma)11
Germ cell tumours
 Seminoma711
 Non-seminoma (testis)52
 Mixed testicular cancer14
 Embryonal carcinoma13
 Testicular cancer unspecified12
 Teratoma10
 Dysgerminoma/germinoma8
 Yolk sac tumour4
 Gonadoblastoma1
Neuroblastoma73
Thyroid carcinoma
 Papillary thyroid carcinoma51
 Follicular thyroid carcinoma18
 Thyroid cancer unspecified15
 Anaplastic thyroid carcinoma4
Soft tissue and other extraosseous sarcomas
 Rhabdomyosarcoma19
 Fibrosarcoma7
 Other soft tissue sarcomas49
Malignant bone tumours
 Ewing sarcoma8
 Osteosarcoma7
 Chondrosarcoma4
Hepatic tumours
 Hepatoblastoma2
 Hepatocellular carcinoma2
  • * This patient also had ovarian Sertoli–Leydig cell tumour.

  • This patient also had pleuropulmonary blastoma.

  • PNET, primitive neuroectodermal tumour.