DICER1 syndrome and pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry
Pleuropulmonary blastoma (PPB) is the most common primary lung tumor of infants and young children and is known to be associated with pathogenic variants in the DICER1 gene. In addition to PPB, DICERl-associated conditions include a variety of other benign and malignant tumors including cystic nephroma and Wilms tumor, ovarian Sertoli-Leydig cell tumor and gynandroblastoma, multinodular goiter and thyroid carcinoma and certain childhood brain tumors among others. Early identification of individuals most at risk for DICERl-associated conditions may allow family education, targeted surveillance and identification of DICERl-related tumors and conditions in their earliest and most curable form. Given the rarity of these conditions, international collaboration is underway and encouraged.