1. Multiple pilomatrixomas in a survivor of WNT-activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis.
- Author
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Bendelsmith CR, Skrypek MM, Patel SR, Pond DA, Linabery AM, and Bendel AE
- Subjects
- Child, Female, Humans, Adenomatous Polyposis Coli diagnosis, Adenomatous Polyposis Coli genetics, Adenomatous Polyposis Coli metabolism, Adenomatous Polyposis Coli pathology, Adenomatous Polyposis Coli Protein genetics, Adenomatous Polyposis Coli Protein metabolism, Cancer Survivors, Cerebellar Neoplasms diagnosis, Cerebellar Neoplasms genetics, Cerebellar Neoplasms metabolism, Cerebellar Neoplasms pathology, Germ-Line Mutation, Hair Diseases diagnosis, Hair Diseases genetics, Hair Diseases metabolism, Hair Diseases pathology, Medulloblastoma diagnosis, Medulloblastoma genetics, Medulloblastoma metabolism, Medulloblastoma pathology, Neoplasms, Second Primary diagnosis, Neoplasms, Second Primary genetics, Neoplasms, Second Primary metabolism, Neoplasms, Second Primary pathology, Pilomatrixoma diagnosis, Pilomatrixoma genetics, Pilomatrixoma metabolism, Pilomatrixoma pathology, Skin Neoplasms diagnosis, Skin Neoplasms genetics, Skin Neoplasms metabolism, Skin Neoplasms pathology, Wnt Proteins genetics, Wnt Proteins metabolism
- Abstract
Because children diagnosed with WNT-activated medulloblastoma have a 10-year overall survival rate of 95%, active long-term follow-up is critically important in reducing mortality from other causes. Here, we describe an 11-year-old adopted female who developed multiple pilomatrixomas 3 years after diagnosis of WNT-activated medulloblastoma, an unusual finding that prompted deeper clinical investigation. A heterozygous germline APC gene mutation was discovered, consistent with familial adenomatous polyposis. Screening endoscopy revealed numerous precancerous polyps that were excised. This case highlights the importance of long-term follow-up of pediatric cancer survivors, including attention to unexpected symptoms, which might unveil an underlying cancer predisposition syndrome., (© 2017 Wiley Periodicals, Inc.)
- Published
- 2018
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