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. 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. Others include cancers of the testicle,brain and eye.
It is caused by the passing in a family of a mutated DICER1 gene. Some people with the affected DICER1 do not develop any tumor.
It is rare and affects mainly children and young adults. The number of people affected is not known, but about 5% of those affected develop their first tumor by age 10-years. Around 70% of cases of pleuropulmonary blastoma have the affected DICER gene.
- ↑ 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.
- ↑ 2.0 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.
- ↑ 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.