DICER1 syndrome and pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry
https://doi.org/10.17650/2311-1267-2017-4-4-13-19
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.
About the Authors
K. A. P. Schultz
Children’s Minnesota
United States
United States
International Pleuropulmonary Blastoma Registry
Department of Cancer and Blood Disorders
Minneapolis, MN
G. M. Williams
Children’s Minnesota
United States
United States
International Pleuropulmonary Blastoma Registry
Department of Cancer and Blood Disorders
Minneapolis, MN
D. Yu. Kachanov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation
Russian Federation
S. R. Varfolomeeva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation
Russian Federation
A. D. Hill
Division of Pathology Children’s National Medical Center
United States
Washington, DC
United States
Washington, DC
L. P. Dehner
Barnes-Jewish and St. Louis Children’s Hospitals
Washington University Medical Center
United States
United States
Lauren V. Ackerman Laboratory of Surgical Pathology
St. Louis
Y. H. Messinger
Children’s Minnesota
United States
United States
International Pleuropulmonary Blastoma Registry
Department of Cancer and Blood Disorders
Minneapolis, MN
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Review
For citations:
P. Schultz K.A., Williams G.M., Kachanov D.Yu., Varfolomeeva S.R., Hill A.D., Dehner L.P., Messinger Y.H. DICER1 syndrome and pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. Russian Journal of Pediatric Hematology and Oncology. 2017;4(4):9-19. (In Russ.) https://doi.org/10.17650/2311-1267-2017-4-4-13-19
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