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.
Keywords:
APC mutations; FAP; Wnt signaling pathway; medulloblastoma; pilomatrixoma.
© 2017 Wiley Periodicals, Inc.
MeSH terms
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Adenomatous Polyposis Coli Protein* / genetics
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Adenomatous Polyposis Coli Protein* / metabolism
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Adenomatous Polyposis Coli* / diagnosis
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Adenomatous Polyposis Coli* / genetics
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Adenomatous Polyposis Coli* / metabolism
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Adenomatous Polyposis Coli* / pathology
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Cancer Survivors*
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Cerebellar Neoplasms* / diagnosis
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Cerebellar Neoplasms* / genetics
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Cerebellar Neoplasms* / metabolism
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Cerebellar Neoplasms* / pathology
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Child
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Female
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Germ-Line Mutation*
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Hair Diseases* / diagnosis
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Hair Diseases* / genetics
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Hair Diseases* / metabolism
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Hair Diseases* / pathology
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Humans
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Medulloblastoma* / diagnosis
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Medulloblastoma* / genetics
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Medulloblastoma* / metabolism
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Medulloblastoma* / pathology
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Neoplasms, Second Primary* / diagnosis
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Neoplasms, Second Primary* / genetics
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Neoplasms, Second Primary* / metabolism
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Neoplasms, Second Primary* / pathology
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Pilomatrixoma* / diagnosis
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Pilomatrixoma* / genetics
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Pilomatrixoma* / metabolism
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Pilomatrixoma* / pathology
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Skin Neoplasms* / diagnosis
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Skin Neoplasms* / genetics
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Skin Neoplasms* / metabolism
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Skin Neoplasms* / pathology
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Wnt Proteins* / genetics
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Wnt Proteins* / metabolism
Substances
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APC protein, human
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Adenomatous Polyposis Coli Protein
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Wnt Proteins