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dc.contributor.authorLee, S.
dc.contributor.authorKambhampati, M.
dc.contributor.authorHo, C.-Y.
dc.date.accessioned2020-02-10T15:17:15Z
dc.date.available2020-02-10T15:17:15Z
dc.date.issued2020
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85078728080&doi=10.3389%2ffonc.2019.01507&partnerID=40&md5=06695036dcaabc8ee8404bec0c84f177
dc.identifier.urihttp://hdl.handle.net/10713/11986
dc.description.abstractAnaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation is unique to the tumor, although rare cases of anaplastic astrocytoma have been described in patients with mosaic IDH1 mutations (Ollier disease or Maffucci syndrome). Here, we present two siblings with IDH1 R132H mutant high grade astrocytomas diagnosed at 14 and 26 years of age. Analysis of IDHR132H mutations in the siblings' tumors and non-neoplastic tissues, including healthy regions of the brain, cheek cells, and primary teeth indicate mosaicism of IDHR132H. Whole exome sequencing of the tumor tissue did not reveal any other common mutations between the two siblings. This study demonstrates the first example of IDH1 R132H mosaicism, acquired during early development, that provides an alternative mechanism of cancer predisposition. Copyright 2020 The Authors.en_US
dc.description.sponsorshipMatthew Larson Foundation for Pediatric Brain Tumors, Rally Foundation, Cure Starts Now Foundation, Musella Foundation For Brain Tumor Research and Information.en_US
dc.description.urihttps://doi.org/10.3389/fonc.2019.01507en_US
dc.language.isoen_USen_US
dc.publisherFrontiers Media S.A.en_US
dc.relation.ispartofFrontiers in Oncology
dc.subjectanaplastic astrocytomaen_US
dc.subjectAYA (adolescents and young adults)en_US
dc.subjectcancer predispositionen_US
dc.subjectddPCRen_US
dc.subjectIDH1 R132H mutationen_US
dc.subjectmosaicismen_US
dc.titleSomatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblingsen_US
dc.typeArticleen_US
dc.identifier.doi10.3389/fonc.2019.01507


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