title: DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.
abstract: Germline mutations inDICER1are associated with increased risk for a wide variety of neoplastic conditions, including pleuropulmonary blastoma (PPB), 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 germlineDICER1mutation and multiple tumors associated with the syndrome.. Although germline mutations inDICER1are rare, tumors of these types will be seen by practicing pathologists and should prompt consideration of an underlyingDICER1mutation.
authors.affiliation: International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; International Ovarian and Testicular Stromal Tumor Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; Department of Oncology, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
authors.forename: Kris Ann
authors.initials: KA
authors.lastname: Schultz
authors.affiliation: Division of Pathology, Children's National Medical Center and Center for Genetic Medicine Research, Children's Research Institute, Washington DC ; Department of Integrative Systems Biology, George Washington University School of Medicine & Health Sciences, Washington DC.
authors.forename: Jiandong
authors.initials: J
authors.lastname: Yang
authors.affiliation: Division of Oncology, Children's National Medical Center, Washington, DC.
authors.forename: Leslie
authors.initials: L
authors.lastname: Doros
authors.affiliation: International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; International Ovarian and Testicular Stromal Tumor Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; Department of Oncology, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
authors.forename: Gretchen M
authors.initials: GM
authors.lastname: Williams
authors.affiliation: International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; International Ovarian and Testicular Stromal Tumor Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; Department of Oncology, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
authors.forename: Anne
authors.initials: A
authors.lastname: Harris
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Stewart
authors.affiliation: International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; International Ovarian and Testicular Stromal Tumor Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; Department of Oncology, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
authors.forename: Yoav
authors.initials: Y
authors.lastname: Messinger
authors.affiliation: Division of Pathology, Children's National Medical Center and Center for Genetic Medicine Research, Children's Research Institute, Washington DC.
authors.forename: Amanda
authors.initials: A
authors.lastname: Field
authors.affiliation: International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; International Ovarian and Testicular Stromal Tumor Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; Lauren V. Ackerman Laboratory of Surgical Pathology, Washington University Medical Center, St. Louis, MO.
authors.forename: Louis P
authors.initials: LP
authors.lastname: Dehner
authors.affiliation: International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; International Ovarian and Testicular Stromal Tumor Registry, 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, Washington DC ; Department of Integrative Systems Biology, George Washington University School of Medicine & Health Sciences, Washington DC.
authors.forename: D Ashley
authors.initials: DA
authors.lastname: Hill
keywords: DICER1; Sertoli-Leydig; nasal chondromesenchymal hamartoma; pleuropulmonary blastoma; thyroid carcinoma