Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families

CONCLUSIONS: Among our patients, three developed tumors most frequently associated with DICER1 syndrome (i.e. pleuropulmonary blastoma, nephroblastoma, and Sertoli-Leydig cell tumor). One developed a peculiar sarcoma of the spinal cord not previously described in DICER1 syndrome. Genetic testing in relatives highlighted the paternal origin and reduced penetrance in all families, with thyroid benign lesions as the most common features in otherwise unaffected individuals.PMID:34761719 | DOI:10.1177/03008916211058788

Source: Tumori - November 11, 2021 Category: Cancer & Oncology Authors: Jacopo Azzollini Andrea Ferrari Alessandra Stracuzzi Stefano Chiaravalli Monica Terenziani Filippo Spreafico Maurizia Grasso Paola Collini Valeria Pensotti Maura Massimino Eloisa Arbustini Siranoush Manoukian Source Type: research