Imaging characteristics of H3 K27M histone-mutant diffuse midline glioma in teenagers and adults

Thust, Stefanie; Micallef, Caroline; Okuchi, Sachi; Brandner, Sebastian; Kumar, Atul; Mankad, Kshitij; Wastling, Stephen; Mancini, Laura; Jäger, Hans Rolf; Shankar, Ananth

doi:10.21037/qims-19-954

Cited by 27 publications

(19 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Additionally, the boundaries of the tumor are ill-defined, and mild peritumoral edema may be notable. These radiological features are consistent with a high-grade glioma (4,11,12). Some scholars summarized that H3 K27M-mutant DMGs occurring in the cervical spinal cord usually showed uniform enhancement (13).…”

Section: Discussionsupporting

confidence: 61%

Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient

Cheng

Zhang

et al. 2021

Front. Surg.

View full text Add to dashboard Cite

Background: Diffuse midline glioma (DMG) with histone H3 K27M mutation is a recently identified entity documented in the 2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System. Spinal cord DMGs with H3 K27M-mutant are commonly reported in adults. Herein, we reported a pediatric patient with spinal cord H3 K27M-mutant DMG.Case Report: A 7-year-old girl with 1-month history of neck pain and 3-week history of progressive weakness in the right hand was presented. Spinal magnetic resonance imaging showed an intramedullary lesion with slight enhancement at the C2-7 levels. With intraoperative neuroelectrophysiological monitoring, the lesion was subtotally resected. Histopathological examination revealed a DMG with histone H3 K27M mutation corresponding to WHO grade IV. Postoperatively, the neck pain was relieved, and the upper-extremity weakness remained unchanged. Oral temozolomide was administrated for 7 months, and radiotherapy was performed for 22 courses. After an 18-month follow-up, no tumor recurrence was noted.Conclusion: Spinal cord H3 K27M-mutant DMGs are extremely rare in pediatric patients. Preoperative differential diagnosis is challenging, and surgical resection with postoperative chemoradiotherapy may be an effective treatment.

show abstract

Section: Discussionsupporting

confidence: 61%

Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient

Cheng

Zhang

et al. 2021

Front. Surg.

View full text Add to dashboard Cite

show abstract

“…Furthermore, via correlation with molecular profiling, it is hoped that these and related computational techniques may permit the accurate, image-based, non-invasive phenotyping and predictive genotyping of brain tumours. This would be of particular benefit in guiding therapy in the 'non-operable tumours', such as in certain DMGs (12,13). There are, however, many challenges with these techniques, including problems with external generalisation and reproducibility.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic accuracy of qualitative MRI in 550 paediatric brain tumours: evaluating current practice in the computational era

Dixon¹,

Jandu²,

Sidpra³

et al. 2022

Quant Imaging Med Surg

Self Cite

View full text Add to dashboard Cite

Background: To investigate the accuracy of qualitative reporting of conventional magnetic resonance imaging (MRI) in the classification of paediatric brain tumours.Methods: Preoperative MRI reports of 608 children prior to resection or biopsy of an intracranial lesion were retrospectively reviewed. A total of 550 children had complete radiological and histopathological notes, thereby reaching our inclusion criteria. Concordance between MRI report and final histopathological diagnosis was assessed using an established lexicon derived from the WHO 2016 classification of CNS tumours. Levels of agreement based on cellular origin, tumour type, and tumour grade were evaluated.Diagnostic accuracy, sensitivity, specificity, confidence intervals, and positive and negative predictive values were calculated.Results: Diagnostic accuracy differed significantly between tumour types and tumour grades. Sensitivities were highest for ependymomas and sellar, pituitary, pineal, and cranial and/or paraspinal nerve tumours (range 80.65-100%). Sensitivity was slightly lower for astrocytic gliomas, oligodendrogliomas, and choroid plexus, neuronal, mixed neuronal-glial, embryonal, and histiocytic tumours (range 63.33-79.59%). Low sensitivities were noted for meningiomas and mesenchymal non-meningothelial, melanocytic, and germ cell tumours (range 0-56.25%). The most correct tumour type predictions were made in the posterior fossa whilst the most incorrect predictions were made in the lobar regions, pineal/tectal plate area, and the supratentorial ventricles.Conclusions: This is the largest published series investigating the predictive accuracy of MRI in paediatric brain tumours. We show that diagnostic accuracy varies greatly by tumour type and location. Looking forward, we should develop and leverage computational methods to improve accuracy in the tumour types and anatomical locations where qualitative diagnostic accuracy is lower.

show abstract

“…A radiological evaluation of pediatric non-brainstem HGG within the HERBY trial revealed increased contrast enhancement in H3 K27M mutant tumors, not differentiating between H3.1 and H3.3 subgroups [25]; however, a study on pDMG with and without H3 K27M mutations did not find differences regarding the presence of contrast enhancement and necrotic areas with respect to mutation status [32]. Furthermore, a recent study performed by Thust et al in a relatively small cohort of H3 K27M mutant pediatric and young adult DMG (n = 15) did not find characteristic MR morphologic parameters including diffusivity for this tumor entity; however, a control group of WT tumors was absent [33].…”

Section: Discussionmentioning

confidence: 85%

“…Furthermore, a recent study performed by Thust et al. in a relatively small cohort of H3 K27M mutant pediatric and young adult DMG ( n = 15) did not find characteristic MR morphologic parameters including diffusivity for this tumor entity; however, a control group of WT tumors was absent [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3 K27M Mutant Diffuse Midline Glioma

et al. 2021

View full text Add to dashboard Cite

Purpose Recent research identified histone H3 K27M mutations to be associated with a dismal prognosis in pediatric diffuse midline glioma (pDMG); however, data on detailed MRI characteristics with respect to H3 K27 mutation status and molecular subgroups (H3.1 and H3.3 K27M mutations) are limited. Methods Standardized magnetic resonance imaging (MRI) parameters and epidemiologic data of 68 pDMG patients (age <18 years) were retrospectively reviewed and compared in a) H3 K27M mutant versus H3 K27 wildtype (WT) tumors and b) H3.1 versus H3.3 K27M mutant tumors. Results Intracranial gliomas (n = 58) showed heterogeneous phenotypes with isointense to hyperintense signal in T2-weighted images and frequent contrast enhancement. Hemorrhage and necrosis may be present. Comparing H3 K27M mutant to WT tumors, there were significant differences in the following parameters: i) tumor localization (p = 0.001), ii) T2 signal intensity (p = 0.021), and iii) T1 signal homogeneity (p = 0.02). No significant imaging differences were found in any parameter between H3.1 and H3.3 K27M mutant tumors; however, H3.1 mutant tumors occurred at a younger age (p = 0.004). Considering spinal gliomas (n = 10) there were no significant imaging differences between the analyzed molecular groups. Conclusion With this study, we are the first to provide detailed MR imaging data on H3 K27M mutant pDMG with respect to molecular subgroup status in a large patient cohort. Our findings may support diagnosis and future targeted therapeutic trials of pDMG within the framework of the radiogenomics concept.

show abstract

Imaging characteristics of H3 K27M histone-mutant diffuse midline glioma in teenagers and adults

Cited by 27 publications

References 43 publications

Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient

Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient

Diagnostic accuracy of qualitative MRI in 550 paediatric brain tumours: evaluating current practice in the computational era

Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3 K27M Mutant Diffuse Midline Glioma

Contact Info

Product

Resources

About