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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(s) -
Bendelsmith Charles R.,
Skrypek Mary M.,
Patel Sachin R.,
Pond Dinel A.,
Linabery Amy M.,
Bendel Anne E.
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26756
Subject(s) - medulloblastoma , familial adenomatous polyposis , medicine , adenomatous polyposis coli , germline mutation , germline , wnt signaling pathway , cancer , mutation , lynch syndrome , oncology , colorectal cancer , cancer research , genetics , gene , dna mismatch repair , biology
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.