Abstract: Germline mutations in DICER1 are associated with increased risk for a wide variety of neoplastic conditions, including pleuropulmonary blastoma, cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, botryoid embryonal rhabdomyosarcoma of the uterine cervix, ciliary body medulloepithelioma, pineoblastoma, pituitary blastoma, and nodular thyroid hyperplasia or thyroid carcinoma. These tumors may be seen in isolation or in constellation with other characteristic tumor types in individuals or family members. Here we describe the medical history of a child with a heterozygous, loss-of-function germline DICER1 mutation and multiple tumors associated with the syndrome. Although germline mutations in DICER1 are rare, tumors of these types will be seen by practicing pathologists and should prompt consideration of an underlying DICER1 mutation.
From the *International Pleuropulmonary Blastoma Registry, †International Ovarian and Testicular Stromal Tumor Registry, and ‡Department of Oncology, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN; §Division of Pathology, Children’s National Medical Center and Center for Genetic Medicine Research, Children’s Research Institute; ∥Department of Integrative Systems Biology, George Washington University School of Medicine & Health Sciences; and ¶Division of Oncology, Children’s National Medical Center, Washington, DC; #Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD; and **Lauren V. Ackerman Laboratory of Surgical Pathology, Washington University Medical Center, St Louis, MO.
Reprints: D. Ashley Hill, MD, Department of Pathology, Children’s National Medical Center, 111 Michigan Ave NW, Washington, DC 20010. E-mail: firstname.lastname@example.org.
This work is supported by National Institutes of Health grant NCI R01CA143167, The Parson’s Foundation (to D.A.H., Y.M.), Hyundai Hope on Wheels (to L.D., K.A.S.), St Baldrick’s Foundation (to Y.M., D.A.H., K.A.S.), The International Ovarian and Testicular Stromal Tumor Registry and PPB Registry are grateful for ongoing support from the Pine Tree Apple Tennis Classic, and the Randy Shaver Community Cancer Fund.
The authors have no conflicts to declare.