Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations.
Journal
Journal of pediatric hematology/oncology
ISSN: 1536-3678
Titre abrégé: J Pediatr Hematol Oncol
Pays: United States
ID NLM: 9505928
Informations de publication
Date de publication:
01 03 2022
01 03 2022
Historique:
received:
25
01
2021
accepted:
25
03
2021
pubmed:
12
5
2021
medline:
27
4
2022
entrez:
11
5
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33974582
doi: 10.1097/MPH.0000000000002189
pii: 00043426-202203000-00079
doi:
Substances chimiques
Histones
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e597-e604Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
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.
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.
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.
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.
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.
Park CC, Hartmann C, Folkerth R, et al. Systemic metastasis in glioblastoma may represent the emergence of neoplastic subclones. J Neuropathol Exp Neurol. 2000;59:1044–1050.
Jahraus CD, Dishop MK, Bayliff SL, et al. Atypical presentation and progression of glioblastoma multiforme in a 6-year-old girl: multidisciplinary case report. J Pediatr Hematol Oncol. 2003;25:243–247.
Jethanandani A, Gule-Monroe MK, Chen M, et al. Extraneural metastases from a high-grade glioma (hgg) with an h3f3a g34r mutation. Front Oncol. 2019;9:373.
Paul M, Crawford J, Elster J. Bone metastases in pediatric high grade glioma: a case series and review of the literature. Neuro-Oncology. 2018;20(suppl 2):i90.
Yanagawa Y, Miyazawa T, Ishihara S, et al. Pontine glioma with osteoblastic skeletal metastases in a child. Surg Neurol. 1996;46:481–484.
Kingston JE, Plowman PN, Smith BF, et al. Differentiated astrocytoma with osteoblastic skeletal metastases in a child. Childs Nerv Syst. 1986;2:219–221.
Longee DC, Friedman HS, Phillips PC, et al. Osteoblastic metastases from astrocytomas: a report of two cases. Med Pediatr Oncol. 1991;19:318–324.
Wen PY, Drappatz J, de Groot J, et al. Phase ii study of cabozantinib in patients with progressive glioblastoma: subset analysis of patients naive to antiangiogenic therapy. Neuro Oncol. 2018;20:249–258.
Castel D, Philippe C, Calmon R, et al. Histone h3f3a and hist1h3b k27m mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes. Acta Neuropathol. 2015;130:815–827.
Jeon HM, Lee J. Met: roles in epithelial-mesenchymal transition and cancer stemness. Ann Transl Med. 2017;5:5.
Muller PA, Vousden KH, Norman JC. P53 and its mutants in tumor cell migration and invasion. J Cell Biol. 2011;192:209–218.
Madjd Z, Akbari ME, Zarnani AH, et al. Expression of emsy, a novel brca2-link protein, is associated with lymph node metastasis and increased tumor size in breast carcinomas. Asian Pac J Cancer Prev. 2014;15:1783–1789.
Martin D, Galisteo R, Molinolo AA, et al. Pi3kγ mediates kaposi’s sarcoma-associated herpesvirus vgpcr-induced sarcomagenesis. Cancer Cell. 2011;19:805–813.
Hoffman LM, DeWire M, Ryall S, et al. Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics. Acta Neuropathol Commun. 2016;4:1.
Meric-Bernstam F, Bruso L, Danieels M, et al. Incidental germline variants in 1000 advancved cancers on a prospective somatic genomic profiling protocol. Ann Oncol. 2016;27:795–800.
Uche A, Sila C, Tanoura T, et al. Brain complete response to cabozantinib prior to radiation therapy in metastatic renal cell carcinoma. Case Rep Urol. 2019:6769017.