Send to

Choose Destination
Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17.

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.

Author information

International Pleuropulmonary Blastoma Registry, Children's Minnesota, Minneapolis, Minnesota.
Cancer and Blood Disorders Program, Children's Minnesota, Minneapolis, Minnesota.
International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, Minnesota.
International Pleuropulmonary Blastoma Registry, Children's Minnesota, Minneapolis, Minnesota.
Pediatric Oncology, Dana-Farber Cancer Institute, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Solid Tumor Programs, Boston, Massachusetts.
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
Division of Endocrinology and Diabetes, Pediatric Thyroid Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Cancer Genetic Counseling Program, George Washington University, Children's National Medical Center, Washington, D.C.
Division of Oncology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Dana-Farber Cancer Institute, Center for Cancer Genetics and Prevention, Boston, Massachusetts.
Hematology, Oncology, and Bone Marrow Transplantation, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, Colorado.
Westat, Rockville, Maryland.
Virginia Piper Cancer Institute, Allina Health, Minneapolis, Minnesota.
SIREDO Oncology Center (Care, Innovation and Research for Children, Adolescents and Young Adults with Cancer), Institut Curie, Paris, France.
Clinic of Pediatrics, Municipal Hospital Dortmund, Dortmund, Germany.
Division of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
Division of Anatomic Pathology, Lauren V. Ackerman Laboratory of Surgical Pathology, Barnes-Jewish and St. Louis Children's Hospitals, Washington University Medical Center, St. Louis, Missouri.
Department of Pathology, Center for Cancer and Immunology Research, Children's National Medical Center, Washington D.C.


Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma, and brain tumors including pineoblastoma and pituitary blastoma. In May 2016, the International PPB Registry convened the inaugural International DICER1 Symposium to develop consensus testing and surveillance and treatment recommendations. Attendees from North America, Europe, and Russia provided expert representation from the disciplines of pediatric oncology, endocrinology, genetics, genetic counseling, radiology, pediatric surgery, pathology, and clinical research. Recommendations are provided for genetic testing; prenatal management; and surveillance for DICER1-associated pulmonary, renal, gynecologic, thyroid, ophthalmologic, otolaryngologic, and central nervous system tumors and gastrointestinal polyps. Risk for most DICER1-associated neoplasms is highest in early childhood and decreases in adulthood. Individual and caregiver education and judicious imaging-based surveillance are the primary recommended approaches. These testing and surveillance recommendations reflect a consensus of expert opinion and current literature. As DICER1 research expands, guidelines for screening and treatment will continue to be updated. Clin Cancer Res; 24(10); 2251-61. ©2018 AACR.

Supplemental Content

Full text links

Icon for HighWire Icon for PubMed Central
Loading ...
Support Center