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Case Reports
. 2016 May;18(5):752-3.
doi: 10.1093/neuonc/now013. Epub 2016 Feb 21.

Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas

Cassie N Kline  1 , Nancy M Joseph  1 , James P Grenert  1 , Jessica van Ziffle  1 , Iwei Yeh  1 , Boris C Bastian  1 , Sabine Mueller  1 , David A Solomon  1
Affiliations
Case Reports

Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas

Cassie N Kline et al. Neuro Oncol. 2016 May.
No abstract available

Keywords: ACVR1; MUTYH; Turcot syndrome; familial adenomatous polyposis syndrome type 2; glioma; medulloblastoma; tumor predisposition syndrome.

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Figures

Fig. 1.
Fig. 1.
(A) T1 postcontrast MR imaging and hematoxylin and eosin (H&E) stained section from the resection of a glioblastoma in the thoracic spinal cord from patient #1 at 6 years of age. (B) T1 postcontrast MR imaging and H&E stained section from the resection of a medulloblastoma from patient #2 at 5 years of age (top). Fluid-attenuated inversion recovery MR imaging and H&E stained section from the biopsy of a high-grade pontine glioma from patient #2 at 15 years of age (bottom). (C) List of pathogenic germline and somatic mutations that were identified upon targeted next-generation sequencing of 510 cancer-associated genes on genomic DNA isolated from peripheral blood and tumor tissue. MAF, mutant allele frequency. Scale bar, 20 µm.
See this image and copyright information in PMC

References

    1. Hamilton SR, Liu B, Parsons RE et al. . The molecular basis of Turcot's syndrome. N Engl J Med. 1995;332(13):839–847. - PubMed
    1. McGoldrick JP, Yeh YC, Solomon M, Essigmann JM, Lu AL. Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein. Mol Cell Biol. 1995;15(2):989–996. - PMC - PubMed
    1. Al-Tassan N, Chmiel NH, Maynard FJ et al. . Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. Nature Genet. 2002;30(2):227–232. - PubMed
    1. Jones S, Emmerson P, Maynard J et al. . Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet. 2002;11(23):2961–2967. - PubMed
    1. Sieber OM, Lipton L, Crabtree M et al. . Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348(9):791–799. - PubMed