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Case Reports
. 2016 Oct 26:2016:bcr2016217764.
doi: 10.1136/bcr-2016-217764.

Disseminated pilomyxoid astrocytoma in infancy with novel MUTYH mutation

Yasmin Aghajan  1 , Michael L Levy  2 , Robert O Newbury  3 , John Ross Crawford  4
Affiliations
Case Reports

Disseminated pilomyxoid astrocytoma in infancy with novel MUTYH mutation

Yasmin Aghajan et al. BMJ Case Rep. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest: None declared.

Figures

Figure 1
Figure 1
T2-weighted axial (A, B), sagittal (C) and coronal (D) MRI of the brain shows mass-like prolongation and enhancement within the optic chiasm extending to involve the bilateral basal ganglia, temporal lobes and cerebellum.
Figure 2
Figure 2
MRI of the spine with contrast demonstrates extensive nodular enhancement along the pial surface of the cervicomedullary junction, cervical cord and thoracic cord consistent with diffuse leptomeningeal metastatic disease.
Figure 3
Figure 3
Neuropathology reveals a moderately cellular tumour with uniform nuclei, small amounts of myxoid material in the background (yellow arrow) and perivascular clearing (red arrow) consistent with pilomyxoid astrocytoma (×200).
See this image and copyright information in PMC

References

    1. Komotar RJ, Mocco J, Carson BS et al. . Pilomyxoid astrocytoma: a review. MedGenMed 2004;6:42. - PMC - PubMed
    1. Mazzei F, Viel A, Bignami M. Role of MUTYH in human cancer. Mutat Res 2013;743–744:33–43. doi:10.1016/j.mrfmmm.2013.03.003 - DOI - PubMed
    1. Kline CN, Joseph NM, Grenert JP et al. . Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. Neuro-oncology 2016;18:752–3. doi:10.1093/neuonc/now013 - DOI - PMC - PubMed

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