The Role Of Nasal Endoscopy Screening For Ncmh In The Dicer1 Syndrome.

e13045Background: Pleuropulmonary blastoma (PPB), a rare pediatric lung sarcoma, is the hallmark tumor of the familial tumor DICER1 syndrome. Nasal chondromesenchymal hamartoma (NCMH) is a rare tumor of the sinonasal tract that typically occurs in young children. Although benign, NCMH can be locally aggressive and extend into the intracranial space. We have previously published 1 case of NCMH and 1 case of a Schneidarian papilloma from the National Cancer Institute DICER1 study cohort. The prevalence of and need for screening for NCMH in the DICER1 syndrome is unknown. We provide an update on NCMH from our study and investigated the role of screening nasal endoscopy in DICER1 mutation carriers (“cases”)and family controls. Methods: As part of a study on the natural history of the DICER1 syndrome at the National Institutes of Health (NIH) and in collaboration with the International PPB Registry, DICER1 cases and controls were evaluated at the NIH, including exam and nasal endoscopy in ENT clinic. In this a...