1 results match your criteria Pathology Case Reviews [Journal]
Pathol Case Rev 2014 Mar;19(2):90-100
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.
Germline mutations in are 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 germline mutation and multiple tumors associated with the syndrome. Read More
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