Skip to main content
Top
Published in: BMC Neurology 1/2023

Open Access 01-12-2023 | Glioma | Case report

A rare case of H3K27-altered diffuse midline glioma with multiple osseous and spinal metastases at the time of diagnosis

Authors: A. Kaywan Aftahy, Vicki M. Butenschoen, Lisa Hoenikl, Friederike Liesche-Starnecker, Benedikt Wiestler, Friederike Schmidt-Graf, Bernhard Meyer, Jens Gempt

Published in: BMC Neurology | Issue 1/2023

Login to get access

Abstract

Background

H3K27-altered diffuse midline gliomas are uncommon central nervous system tumors with extremely poor prognoses.

Case presentation

We report the case of a 24-year-old man patient with multiple, inter alia osseous metastases who presented with back pain, hemi-hypoesthesia, and hemi-hyperhidrosis. The patient underwent combined radio-chemotherapy and demonstrated temporary improvement before deteriorating.

Conclusions

H3K27-altered diffuse midline glioma presents an infrequent but crucial differential diagnosis and should be considered in cases with rapid neurological deterioration and multiple intracranial and intramedullary tumor lesions in children and young adults. Combined radio-chemotherapy delayed the neurological deterioration, but unfortunately, progression occurred three months after the diagnosis.
Literature
1.
go back to reference Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropatho. 2016;131(6):803–20.CrossRef Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropatho. 2016;131(6):803–20.CrossRef
2.
go back to reference Morais N, Mascarenhas L, Soares-Fernandes JP, Silva A, Magalhães Z, Costa JA. Primary spinal glioblastoma: A case report and review of the literature. Oncology letters. 2013;5(3):992–6.CrossRefPubMed Morais N, Mascarenhas L, Soares-Fernandes JP, Silva A, Magalhães Z, Costa JA. Primary spinal glioblastoma: A case report and review of the literature. Oncology letters. 2013;5(3):992–6.CrossRefPubMed
3.
go back to reference Ciappetta P, Salvati M, Capoccia G, Artico M, Raco A, Fortuna A. Spinal glioblastomas: report of seven cases and review of the literature. Neurosurgery. 1991;28(2):302–6.CrossRefPubMed Ciappetta P, Salvati M, Capoccia G, Artico M, Raco A, Fortuna A. Spinal glioblastomas: report of seven cases and review of the literature. Neurosurgery. 1991;28(2):302–6.CrossRefPubMed
4.
go back to reference Shen CX, Wu JF, Zhao W, Cai ZW, Cai RZ, Chen CM. Primary spinal glioblastoma multiforme: A case report and review of the literature. Medicine. 2017;96(16):e6634.CrossRefPubMedPubMedCentral Shen CX, Wu JF, Zhao W, Cai ZW, Cai RZ, Chen CM. Primary spinal glioblastoma multiforme: A case report and review of the literature. Medicine. 2017;96(16):e6634.CrossRefPubMedPubMedCentral
5.
go back to reference Raco A, Esposito V, Lenzi J, Piccirilli M, Delfini R, Cantore G. Long-term follow-up of intramedullary spinal cord tumors: a series of 202 cases. Neurosurgery 2005;56(5):972-81; discussion -81. Raco A, Esposito V, Lenzi J, Piccirilli M, Delfini R, Cantore G. Long-term follow-up of intramedullary spinal cord tumors: a series of 202 cases. Neurosurgery 2005;56(5):972-81; discussion -81.
6.
go back to reference Mourad PD, Farrell L, Stamps LD, Chicoine MR, Silbergeld DL. Why are systemic glioblastoma metastases rare? Systemic and cerebral growth of mouse glioblastoma. Surg Neurol 2005;63(6):511-519; discussion 9. Mourad PD, Farrell L, Stamps LD, Chicoine MR, Silbergeld DL. Why are systemic glioblastoma metastases rare? Systemic and cerebral growth of mouse glioblastoma. Surg Neurol 2005;63(6):511-519; discussion 9.
7.
go back to reference Frank S, Kuhn SA, Brodhun M, Mueller U, Romeike B, Kosmehl H, et al. Metastatic glioblastoma cells use common pathways via blood and lymphatic vessels. Neurologia i neurochirurgia polska. 2009;43(2):183–90.PubMed Frank S, Kuhn SA, Brodhun M, Mueller U, Romeike B, Kosmehl H, et al. Metastatic glioblastoma cells use common pathways via blood and lymphatic vessels. Neurologia i neurochirurgia polska. 2009;43(2):183–90.PubMed
8.
go back to reference Hamilton JD, Rapp M, Schneiderhan T, Sabel M, Hayman A, Scherer A, et al. Glioblastoma multiforme metastasis outside the CNS: three case reports and possible mechanisms of escape. J Clin Oncol. 2014;32(22):e80–4.CrossRefPubMed Hamilton JD, Rapp M, Schneiderhan T, Sabel M, Hayman A, Scherer A, et al. Glioblastoma multiforme metastasis outside the CNS: three case reports and possible mechanisms of escape. J Clin Oncol. 2014;32(22):e80–4.CrossRefPubMed
9.
go back to reference Kup PG, Nieder C, Winnekendonk G, Adamietz IA, Fakhrian K. Extracranial oral cavity metastasis from glioblastoma multiforme: A case report. Mol Clin Oncol. 2016;5(4):437–9.CrossRefPubMedPubMedCentral Kup PG, Nieder C, Winnekendonk G, Adamietz IA, Fakhrian K. Extracranial oral cavity metastasis from glioblastoma multiforme: A case report. Mol Clin Oncol. 2016;5(4):437–9.CrossRefPubMedPubMedCentral
10.
go back to reference Rosen J, Blau T, Grau SJ, Barbe MT, Fink GR, Galldiks N. Extracranial Metastases of a Cerebral Glioblastoma: A Case Report and Review of the Literature. Case Rep Oncol. 2018;11(2):591–600.CrossRefPubMedPubMedCentral Rosen J, Blau T, Grau SJ, Barbe MT, Fink GR, Galldiks N. Extracranial Metastases of a Cerebral Glioblastoma: A Case Report and Review of the Literature. Case Rep Oncol. 2018;11(2):591–600.CrossRefPubMedPubMedCentral
11.
go back to reference Costa RB, Costa R, Kaplan J, Cruz MR, Shah H, Matsangou M, et al. A Rare Case of Glioblastoma Multiforme with Osseous Metastases. Case Rep Oncol Med. 2017;2017:2938319.PubMedPubMedCentral Costa RB, Costa R, Kaplan J, Cruz MR, Shah H, Matsangou M, et al. A Rare Case of Glioblastoma Multiforme with Osseous Metastases. Case Rep Oncol Med. 2017;2017:2938319.PubMedPubMedCentral
12.
go back to reference Kalokhe G, Grimm SA, Chandler JP, Helenowski I, Rademaker A, Raizer JJ. Metastatic glioblastoma: case presentations and a review of the literature. J Neurooncol. 2012;107(1):21–7.CrossRefPubMed Kalokhe G, Grimm SA, Chandler JP, Helenowski I, Rademaker A, Raizer JJ. Metastatic glioblastoma: case presentations and a review of the literature. J Neurooncol. 2012;107(1):21–7.CrossRefPubMed
13.
go back to reference Seo YJ, Cho WH, Kang DW, Cha SH. Extraneural metastasis of glioblastoma multiforme presenting as an unusual neck mass. J Korean Neurosurg Soc. 2012;51(3):147–50.CrossRefPubMedPubMedCentral Seo YJ, Cho WH, Kang DW, Cha SH. Extraneural metastasis of glioblastoma multiforme presenting as an unusual neck mass. J Korean Neurosurg Soc. 2012;51(3):147–50.CrossRefPubMedPubMedCentral
14.
go back to reference Franceschi S, Lessi F, Aretini P, Mazzanti CM, Menicagli M, La Ferla M, et al. Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing. Neuro Oncol. 2016;18(2):298.CrossRefPubMedPubMedCentral Franceschi S, Lessi F, Aretini P, Mazzanti CM, Menicagli M, La Ferla M, et al. Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing. Neuro Oncol. 2016;18(2):298.CrossRefPubMedPubMedCentral
15.
go back to reference Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, et al. The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol. 2021;23(8):1231–51.CrossRefPubMedPubMedCentral Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, et al. The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol. 2021;23(8):1231–51.CrossRefPubMedPubMedCentral
16.
go back to reference Gu Q, Huang Y, Zhang H, Jiang B. Case Report: Five Adult Cases of H3K27-Altered Diffuse Midline Glioma in the Spinal Cord. Front Oncol. 2021;11:701113.CrossRefPubMedPubMedCentral Gu Q, Huang Y, Zhang H, Jiang B. Case Report: Five Adult Cases of H3K27-Altered Diffuse Midline Glioma in the Spinal Cord. Front Oncol. 2021;11:701113.CrossRefPubMedPubMedCentral
17.
go back to reference Brat DJ, Aldape K, Colman H, Figrarella-Branger D, Fuller GN, Giannini C, et al. cIMPACT-NOW update 5: recommended grading criteria and terminologies for IDH-mutant astrocytomas. Acta Neuropathol. 2020;139(3):603–8.CrossRefPubMedPubMedCentral Brat DJ, Aldape K, Colman H, Figrarella-Branger D, Fuller GN, Giannini C, et al. cIMPACT-NOW update 5: recommended grading criteria and terminologies for IDH-mutant astrocytomas. Acta Neuropathol. 2020;139(3):603–8.CrossRefPubMedPubMedCentral
18.
go back to reference Hong CS, Kundishora AJ, Kahle KT, Diluna ML. Teaching NeuroImages: Unilateral focal segmental hyperhidrosis from spinal tumor progression. Neurology. 2019;93(7):e729–e30.CrossRefPubMedPubMedCentral Hong CS, Kundishora AJ, Kahle KT, Diluna ML. Teaching NeuroImages: Unilateral focal segmental hyperhidrosis from spinal tumor progression. Neurology. 2019;93(7):e729–e30.CrossRefPubMedPubMedCentral
19.
go back to reference Stupp R, Mason WP, van den Bent MJ, Weller M, Fisher B, Taphoorn MJ, et al. Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma. N Engl J Med. 2005;352(10):987–96.CrossRefPubMed Stupp R, Mason WP, van den Bent MJ, Weller M, Fisher B, Taphoorn MJ, et al. Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma. N Engl J Med. 2005;352(10):987–96.CrossRefPubMed
20.
go back to reference Martínez-Ricarte F, Mayor R, Martínez-Sáez E, Rubio-Pérez C, Pineda E, Cordero E, et al. Molecular Diagnosis of Diffuse Gliomas through Sequencing of Cell-Free Circulating Tumor DNA from Cerebrospinal Fluid. Clin Cancer Res. 2018;24(12):2812–9.CrossRefPubMed Martínez-Ricarte F, Mayor R, Martínez-Sáez E, Rubio-Pérez C, Pineda E, Cordero E, et al. Molecular Diagnosis of Diffuse Gliomas through Sequencing of Cell-Free Circulating Tumor DNA from Cerebrospinal Fluid. Clin Cancer Res. 2018;24(12):2812–9.CrossRefPubMed
21.
go back to reference Schreck KC, Ranjan S, Skorupan N, Bettegowda C, Eberhart CG, Ames HM, et al. Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas. J Neuro-oncol. 2019;143(1):87–93.CrossRef Schreck KC, Ranjan S, Skorupan N, Bettegowda C, Eberhart CG, Ames HM, et al. Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas. J Neuro-oncol. 2019;143(1):87–93.CrossRef
22.
go back to reference Gonzalez Castro LN, Wesseling P. The cIMPACT-NOW updates and their significance to current neuro-oncology practice. Neuro-Oncol Pract. 2020;8(1):4–10.CrossRef Gonzalez Castro LN, Wesseling P. The cIMPACT-NOW updates and their significance to current neuro-oncology practice. Neuro-Oncol Pract. 2020;8(1):4–10.CrossRef
24.
go back to reference Pan C, Diplas BH, Chen X, Wu Y, Xiao X, Jiang L, et al. Molecular profiling of tumors of the brainstem by sequencing of CSF-derived circulating tumor DNA. Acta Neuropathologica. 2019;137(2):297–306. Pan C, Diplas BH, Chen X, Wu Y, Xiao X, Jiang L, et al. Molecular profiling of tumors of the brainstem by sequencing of CSF-derived circulating tumor DNA. Acta Neuropathologica. 2019;137(2):297–306.
Metadata
Title
A rare case of H3K27-altered diffuse midline glioma with multiple osseous and spinal metastases at the time of diagnosis
Authors
A. Kaywan Aftahy
Vicki M. Butenschoen
Lisa Hoenikl
Friederike Liesche-Starnecker
Benedikt Wiestler
Friederike Schmidt-Graf
Bernhard Meyer
Jens Gempt
Publication date
01-12-2023
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2023
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-023-03135-4

Other articles of this Issue 1/2023

BMC Neurology 1/2023 Go to the issue