DICER1-related tumour predisposition
Autoszomális domináns
DICER1 variants causing pleuropulmonary blastoma, multinodular goitre, thyroid cancer, ovarian Sertoli-Leydig cell tumours, cystic nephroma and other rare tumours.
Mit változtat a diagnózis
Surveillance guidelines include chest imaging in early childhood, thyroid ultrasound and pelvic ultrasound.
Vizsgált gének
Más néven
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
6 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- 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
