cIMPACT-NOW update 2: diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant

Louis, David N.; Giannini, Caterina; Capper, David; Paulus, Werner; Figarella‐Branger, Dominique; Lopes, M. Beatriz S.; Batchelor, Tracy T.; Cairncross, J. Gregory; Bent, Martin J. van den; Wick, Wolfgang; Wesseling, Pieter

doi:10.1007/s00401-018-1826-y

Cited by 328 publications

(239 citation statements)

References 17 publications

Supporting

Mentioning

225

Contrasting

Unclassified

Order By: Relevance

“…However, the present case involved a diffuse infiltrating glioma with lesions affecting the midline structures of the brainstem and thalamus, and immunostaining and genetic analyses confirmed an H3 K27M mutation. Therefore, this case fulfilled the DMG, H3 K27M mutant criteria set forth by Louis et al 11 Radiographically, we speculate that the midlineoriginated tumor gained a focal, well-enhanced phenotype during malignant progression at the gliomatosis cerebri-like infiltration site. The 2016 WHO Classification of Tumors of the CNS already mentioned that DMG, H3 K27M mutant can show gliomatosis cerebri-like growth, 1 and the gain of a well-enhanced phenotype during follow-up is a frequently observed phenomenon.…”

Section: Discussionsupporting

confidence: 66%

“…11 In this case, it was difficult to determine the site of origin because of the gliomatosis cerebri-like infiltration of the tumor. 6-10 Therefore, Louis et al recommended that the term DMG, H3 K27M mutant be reserved for H3 K27M mutant tumors that are diffuse (i.e., infiltrating), midline (e.g., affecting the thalamus, brain stem, or spinal cord), gliomas and H3 K27M mutant, and should not be applied to other tumors that are H3 K27M mutant.…”

Section: Discussionmentioning

confidence: 93%

“…[6][7][8][9][10] Therefore, Louis et al recommended that the term DMG, H3 K27M mutant be reserved for H3 K27M mutant tumors that are diffuse (i.e., infiltrating), midline (e.g., affecting the thalamus, brain stem, or spinal cord), gliomas and H3 K27M mutant, and should not be applied to other tumors that are H3 K27M mutant. 11 In this case, it was difficult to determine the site of origin because of the gliomatosis cerebri-like infiltration of the tumor. Our preoperative diagnosis of the tumor was a hemispheric diffuse glioma, considering the dominancy of the hemispheric lesion area, distribution of enhanced area, and patient's age.…”

Section: Discussionmentioning

confidence: 93%

See 2 more Smart Citations

A case of diffuse midline glioma, H3 K27M mutant mimicking a hemispheric malignant glioma in an elderly patient

et al. 2019

View full text Add to dashboard Cite

Diffuse midline glioma, H3 K27M mutant arises from midline structures of the central nervous system and predominately affects pediatric patients. However, this disease entity was only recently established, and the clinical phenotypic spectrum remains largely unclear. We herein report a rare case of diffuse midline glioma, H3 K27M mutant with an unusual distribution in an elderly woman who presented with a diffuse glioma that invaded both sides of the thalami, and left hippocampus and frontoparietal lobes, thus mimicking a hemispheric malignant glioma. A biopsy of the lobular lesion led to a molecular diagnostic confirmation of diffuse midline glioma, H3 K27M mutant. The patient received concurrent bevacizumab and temozolomide therapy with radiation therapy and survived for 30 months. This case highlights the possibility that a glioma with cerebral hemispheric spread in an elderly patient may harbor the H3 K27M mutation.palliative care was administered. The patient had an overall survival (OS) duration of 30 months.

show abstract

Section: Discussionsupporting

confidence: 66%

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 93%

See 1 more Smart Citation

A case of diffuse midline glioma, H3 K27M mutant mimicking a hemispheric malignant glioma in an elderly patient

et al. 2019

View full text Add to dashboard Cite

show abstract

“…H3K27M mutations can be identified by IHC, which has demonstrated 100% sensitivity in these tumors with mutations. The mutation results in nuclear positivity on IHC . Simultaneous evaluation for H3K27me3 by IHC reveals reduced expression, confirming the mutation.…”

Section: Discussionmentioning

confidence: 78%

“…The mutation results in nuclear positivity on IHC. 15 Simultaneous evaluation for H3K27me3 by IHC reveals reduced expression, confirming the mutation. Most of the studies on thalamic gliomas with H3K27M mutations are in the pediatric population.…”

Section: Discussionmentioning

confidence: 94%

High frequency of H3K27M immunopositivity in adult thalamic glioblastoma

et al. 2019

View full text Add to dashboard Cite

Adult thalamic glioblastomas (GBM) are uncommon tumors with limited available molecular data. One of the reported molecular alterations in these tumors is the H3K27M mutation. It has been documented that H3K27M mutation is found in a high proportion of pediatric thalamic gliomas. In this study, we have analyzed the molecular alterations exclusive to adult thalamic GBM. This is a 6 years retrospective study of adult thalamic GBM patients who underwent surgical decompression of the tumor. Clinical data were obtained from the case records. Immunohistochemistry (IHC) was performed on the tumors using antibodies directed against the gene products of R132H mutant isocitrate dehydrogenase 1 (IDH1), alpha‐thalassemia/mental retardation X‐linked (ATRX), p53, H3K27M, H3K27me3, and V600E mutant BRAF. Molecular analyses were carried out to detect other IDH1 and IDH2 mutations, O6‐methylguanine‐DNA‐methyltransferase gene (MGMT) promoter methylation, and epidermal growth factor gene (EGFR) and telomerase reverse transcriptase gene (TERT) promoter mutations. A total of 42 cases of adult thalamic GBM were studied. The mean age of presentation was 42 years with age range of 19–58 years. Male predominance was noted. All the tumors were IDH wild‐type, BRAF (V600E)‐immunonegative and unmethylated for MGMT promoter. H3K27M immunopositivity was noted in 60% of tumors. Of these 33.3% were from older adults above the age of 50 years. Of the H3K27M‐immunopositive cases, ATRX loss of expression was seen in 32%, p53 immunopositivity in 24% and EGFR amplification in 12%. Higher frequency of TERT promoter mutations was noted in H3K27M‐immunonegative cases (58.8%) compared to immunopositive cases (20%). Ours is one of the few studies elucidating the molecular alterations exclusive to adult thalamic GBM. We show a high frequency of H3K27M immunopositivity, suggestive of its mutational status in these tumors, including in older adults.

show abstract

Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma

McAleenan

Jones

Kernohan

et al. 2022

Cochrane Database of Systematic Reviews

View full text Add to dashboard Cite

show abstract

cIMPACT-NOW update 2: diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant

Cited by 328 publications

References 17 publications

A case of diffuse midline glioma, H3 K27M mutant mimicking a hemispheric malignant glioma in an elderly patient

A case of diffuse midline glioma, H3 K27M mutant mimicking a hemispheric malignant glioma in an elderly patient

High frequency of H3K27M immunopositivity in adult thalamic glioblastoma

Diagnostic test accuracy and cost-effectiveness of tests for codeletion of chromosomal arms 1p and 19q in people with glioma

Contact Info

Product

Resources

About