1 results match your criteria Pathology Case Reviews [Journal]

  • Page 1 of 1

-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PCR.0000000000000027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209484PMC
March 2014
22 Reads
  • Page 1 of 1