DICER1 syndrome

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DICER1 syndrome is an inherited condition of one or more cancerous and noncancerous tumors due to a germline mutation of the tumor suppressor gene, DICER1.[1] It may cause several rare tumors including pleuropulmonary blastoma of the lung and its lining, ovarian Sertoli-Leydig cell tumor, embryonal rhabdomyosarcoma of the uterine cervix, thyroid cancers, paediatric cystic nephrons of the kidney.[1] Others include cancers of the testicle,brain and eye.[2]

It is caused by the passing in a family of a mutated DICER1 gene.[1] Some people with the affected DICER1 do not develop any tumor.[2]

It is rare and affects mainly children and young adults.[1] The number of people affected is not known, but about 5% of those affected develop their first tumor by age 10-years.[1] Around 70% of cases of pleuropulmonary blastoma have the affected DICER gene.[3]


  1. 1.0 1.1 1.2 1.3 1.4 WHO Classification of Tumours Editorial Board, ed. (2020). "16. Genetic tumour syndromes of the female genital tract: DICER1 syndrome". Female genital tumours: WHO Classification of Tumours. Vol. 4 (5th ed.). Lyon (France): International Agency for Research on Cancer. pp. 556–557. ISBN 978-92-832-4504-9. Archived from the original on 2022-06-17. Retrieved 2022-06-25.
  2. 2.0 2.1 "DICER1 syndrome". www.cancer.gov. National Cancer Institute. 2 February 2011. Archived from the original on 17 June 2022. Retrieved 27 June 2022.
  3. Watanabe, Takafumi; Soeda, Shu; Endo, Yuta; Okabe, Chikako; Sato, Tetsu; Kamo, Norihito; Ueda, Makiko; Kojima, Manabu; Furukawa, Shigenori; Nishigori, Hidekazu; Takahashi, Toshifumi; Fujimori, Keiya (29 January 2022). "Rare Hereditary Gynecological Cancer Syndromes". International Journal of Molecular Sciences. 23 (3): 1563. doi:10.3390/ijms23031563. ISSN 1422-0067. PMID 35163487. Archived from the original on 30 June 2022. Retrieved 27 June 2022.