DICER1-related tumour predisposition
Autozomálně dominantní
DICER1 variants causing pleuropulmonary blastoma, multinodular goitre, thyroid cancer, ovarian Sertoli-Leydig cell tumours, cystic nephroma and other rare tumours.
Co se diagnózou změní
Surveillance guidelines include chest imaging in early childhood, thyroid ultrasound and pelvic ultrasound.
Analyzované geny
Známé také jako
DICER1 syndrome; DICER1-related pleuropulmonary blastoma; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; pleuro-pulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma familial tumour susceptibility syndrome; PPB familial tumour susceptibility syndrome; PPBFTDS
Zahrnuje 6 příbuzných podtypů ↓Skrýt podtypy ↑
- fetal lung interstitial tumor
- goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
- pleuropulmonary blastoma
- pleuropulmonary blastoma type 1
- pleuropulmonary blastoma type 2
- pleuropulmonary blastoma type 3
