Abstract
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, DICER1-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 DICER1- associated conditions may allow family education, targeted surveillance and identification of DICER1-related tumors and conditions in their earliest and most curable form. Given the rarity of these conditions, international collaboration is underway and encouraged.
Highlights
Pleuropulmonary blastoma (PPB, OMIM #601200) 1 is the most common primary lung tumor of infancy and early childhood 2 and heralds a unique spectrum of familial disease. 3,4 The International PPB Registry has enrolled individuals with PPB and related conditions from all over the world including Russia
Based on consensus from the symposium participants, testing for DICER1 pathogenic variants is recommended in individuals with PPB, ovarian Sertoli-Leydig cell tumor or gynandroblastoma
Founded in 1988 and 2011 respectively, the two linked registries have enrolled over 500 patients with PPB and more than 150 patients with ovarian stromal tumors and additional patients with other DICER1related conditions
Summary
DICER1 syndrome and pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry*. K.A.P. Schultz , G.M. Williams , D.Yu. Kachanov, S.R. Varfolomeeva, A.D. Hill, L.P. Dehner, Y.H. Messinger . 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, DICER1-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. Identification of individuals most at risk for DICER1-associated conditions may allow family education, targeted surveillance and identification of DICER1-related tumors and conditions in their earliest and most curable form. Given the rarity of these conditions, international collaboration is underway and encouraged
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