DICER1 syndrome is caused by a pathogenic variant, i.e., a change in the genetic material in the DICER1<\/em> gene. Genetic tests can detect this pathogenic variant, which can confirm the diagnosis. Such genetic testing should always be carried out if one of the following tumors occurs in a person:<\/p>\n<\/div>\n- Pleuropulmonary blastoma (PPB)<\/li>\n
- Germline tumors of the ovary (Sertoli-Leydig cell tumor, juvenile granulosa cell tumor, gynandroblastoma)<\/li>\n
- Cystic nephroma<\/li>\n
- Thyroid tumors not otherwise explained, including multinodular goiter, adenomas, and differentiated thyroid carcinoma<\/li>\n
- Medulloepithelioma of the ciliary body (CBME) of the eye<\/li>\n
- Embryonal rhabdomyosarcoma (ERMS) of the cervix (Sarcoma botryoides)<\/li>\n
- Nasal chondromesenchymal hamartoma (NCMH)<\/li>\n
- Pituitary blastoma<\/li>\n
- Pineoblastoma<\/li>\n<\/ul>\n<\/div>
Further Clinical Features<\/h3><\/div><\/div><\/div>
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The clinical symptoms vary, and their development depends on age. The following is a list of the diseases that occur as part of DICER1 syndrome in connection with the age of those affected:<\/p>\n<\/div>\n