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Review
. 2022 Mar 1;44(2):e597-e604.
doi: 10.1097/MPH.0000000000002189.

Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations

Margot A Lazow  1 , James L Leach  2   3   4 , Andrew T Trout  2   3   4 , John C Breneman  4   5 , Maryam Fouladi  6   7 , Christine Fuller  8
Affiliations
Review

Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations

Margot A Lazow et al. J Pediatr Hematol Oncol. .

Abstract

Extraneural metastases are rare in pediatric high-grade gliomas and little is known about the genomic profiles of tumors that disseminate beyond the central nervous system. We describe a pediatric patient with H3 K27M-mutant diffuse midline glioma of the brain and spine with biopsy-confirmed osseous metastases present at diagnosis and suspected metastatic parenchymal pulmonary disease. Several potentially clinically and/or therapeutically relevant genomic alterations were identified, including H3F3A and TP53 mutations as well as MET, CDK6, EMSY, and PIK3CG amplifications. Sequencing is critical to improve our understanding of the molecular drivers of distant metastases and discover therapeutic targets that penetrate all disease sites.

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Conflict of interest statement

The authors declare no conflict of interest.

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References

    1. Khuong-Quang DA, Buczkowicz P, Rakopoulos P, et al. K27m mutation in histone h3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol. 2012;124:439–447.
    1. Mackay A, Burford A, Carvalho D, et al. Integrated molecular meta-analysis of 1,000 pediatric high-grade and diffuse intrinsic pontine glioma. Cancer Cell. 2017;32:520–537.e525.
    1. Bhatt NS, Houser K, Belongia M, et al. Diffuse midline glioma with osseous metastases at diagnosis: a case report. J Pediatr Hematol Oncol. 2020;42:e673–e676.
    1. Gamis AS, Egelhoff J, Roloson G, et al. Diffuse bony metastases at presentation in a child with glioblastoma multiforme. A case report. Cancer. 1990;66:180–184.
    1. Hamilton JD, Rapp M, Schneiderhan T, et al. Glioblastoma multiforme metastasis outside the cns: three case reports and possible mechanisms of escape. J Clin Oncol. 2014;32:e80–e84.