Characteristics of H3 K27M-mutant gliomas in adults

Meyronet, David; Esteban-Mader, Maud; Bonnet, Charlotte; Joly, Marie‐Odile; Uro‐Coste, Emmanuelle; Amiel-Benouaich, Alexandra; Forest, Fabien; Rousselot-Denis, Cécilia; Burel‐Vandenbos, Fanny; Bourg, V.; Guyotat, Jacques; Fenouil, Tanguy; Jouvet, Anne; Honnorat, Jérôme; Ducray, François

doi:10.1093/neuonc/now274

Cited by 240 publications

(247 citation statements)

References 42 publications

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“…Most diffuse midline gliomas with histone H3‐K27M mutation display typical morphologic features of infiltrative astrocytoma, as well as a wide spectrum of morphologic variations, including giant, epithelioid and rhabdoid cells, primitive neuroectodermal tumor‐like foci, ependymal‐like areas, sarcomatous transformation, pleomorphic xanthoastrocytoma‐like areas, pilomyxoid features and ganglionic differentiation . Among known variants, K27M + diffuse midline gliomas with PNET‐like appearance or neuropil‐like islands are extremely rare.…”

Section: Discussionmentioning

confidence: 99%

“…The tumor is associated with aggressive clinical behavior and poor prognosis. 3,[5][6][7] Although the malignancy displays a broad spectrum of histological features, 2,[8][9][10][11] H3 K27M-mutant gliomas with primitive neuroectodermal tumor (PNET)-like appearance 2 or neuropil-like islands 2,8 are extremely rare. Herein, we report an extremely rare case of diffuse midline gliomas with histone H3-K27M mutation which simultaneously showed PNET-like appearance and neuropillike islands.…”

Section: Introductionmentioning

confidence: 99%

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Diffuse midline gliomas with histone H3‐K27M mutation: A rare case with PNET‐like appearance and neuropil‐like islands

Gao

Feng

et al. 2017

Neuropathology

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Diffuse midline glioma with histone H3-K27M mutation is a new tumor entity defined by the 2016 WHO Classification of Tumors of the Central Nervous System. A 51-year-old Chinese woman presented with neck pain for a month. Subsequent MRI revealed an intramedullary neoplasm extending from C5 to C7. Histologically, the cellular area of the tumor was composed of primitive, poorly differentiated, small cells with scant cytoplasm, nuclear molding, and brisk mitotic activity, exhibiting PNET-like appearance, while in the hypocellular area, oligodendroglioma-like cells were observed. More importantly, neuropil-like islands were observed in the cellular area. Microvascular proliferation was noted, with no necrosis. Besides histone H3K27M mutation, immunohistochemical staining also showed that the tumor cells were positive for oligodendrocyte lineage transcription factor 2 and ATRX. The neuropil-like areas were positive for synaptophysin, intermingled with scattered neuronal nuclear antigen positive cells. The Ki-67 proliferation index was about 30%, and tumor cells were highly immunopositive for p53. Sequencing for IDH1 codon 132 and IDH2 codon 172 gene mutations showed negative results. Furthermore, fluorescent analysis revealed 1p deletion in the lesion but no 19q deletion. Based on these findings, the tumor was diagnosed as diffuse midline gliomas with histone H3-K27M mutation in the spinal cord, corresponding to WHO grade IV. After 4 months of remission, the tumor recurred; 2 months later, the patient died. Herein, we report an extremely rare case of diffuse midline glioma with histone H3K27M mutation, which was morphologically characterized simultaneously by primitive neuroectodermal tumor-like appearance and neuropil-like islands.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diffuse midline gliomas with histone H3‐K27M mutation: A rare case with PNET‐like appearance and neuropil‐like islands

Gao

Feng

et al. 2017

Neuropathology

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“…El contar con el diagnóstico molecular de H3K27 tiene importancia a nivel diagnóstico, en ciertos casos el aspecto morfológico no es sugerente de un glioma de alto grado 9 . También tiene importancia pronóstica, pues se asocia a peor pronóstico, con una sobrevida menor a 10% a los 2 años 10 .…”

Section: Discussionunclassified

“…También tiene importancia pronóstica, pues se asocia a peor pronóstico, con una sobrevida menor a 10% a los 2 años 10 . La mediana de sobrevida se describe entre distintas series entre 9-15 meses 4,9 .…”

Section: Discussionunclassified

Glioma difuso de línea media H3K27M positivo en adulto. Caso clínico

et al. 2019

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The 2016 WHO Classification of Tumours of the Central Nervous System incorporates a new diagnostic entity: the mutant diffuse midline glioma H3K27, a tumor with a characteristic location and special molecular biology. We report the case of a 51-year-old male patient with progressive diplopia. The imaging study showed a mesencephalic tumor; the stereotacic biopsy disclosed an Anaplastic Astrocytoma Isocitrate dehydrogenase (IDH) wild type. The molecular study concludes H3K27 mutation. The patient was treated with radiotherapy with concurrent and adjuvant chemotherapy (temozolomide) with partial recovery of the diplopia.

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“…The most common alteration is the K27M mutation in the H3F3A or HIST1H3B/HIST1H3C genes, which encode the histone H3 variants H3.3 and H3.1. and occur predominantly in children and young adults (median age 10.5 years, range 5-23 years) in midline locations, including the thalamus, pons, and spinal cord [9]. K27M mutations in H3F3A or HIST1H3B/HIST1H3C have been identified as early hallmark events driving gliomagenesis [18].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Diffuse Midline Glioma, H3 K27M Mutant, of the Spinal Cord Mimicking Meningitis

Velz

Neidert

Struckmann

et al. 2018

SN Compr. Clin. Med.

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Characteristics of H3 K27M-mutant gliomas in adults

Abstract: In adults, as in children, H3 K27M mutations define a distinct subgroup of IDH wild-type gliomas characterized by a constant midline location, low rate of MGMT promoter methylation, and poor prognosis.

Cited by 240 publications

References 42 publications

Diffuse midline gliomas with histone H3‐K27M mutation: A rare case with PNET‐like appearance and neuropil‐like islands

Diffuse midline gliomas with histone H3‐K27M mutation: A rare case with PNET‐like appearance and neuropil‐like islands

Glioma difuso de línea media H3K27M positivo en adulto. Caso clínico

A Rare Case of Diffuse Midline Glioma, H3 K27M Mutant, of the Spinal Cord Mimicking Meningitis

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