Diffuse Midline Gliomas with Histone H3-K27M Mutation: A Series of 47 Cases Assessing the Spectrum of Morphologic Variation and Associated Genetic Alterations
| Autor: | Solomon, DA, Wood, MD, Tihan, T, Bollen, AW, Gupta, N, Phillips, JJJ, Perry, A |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Histones Methionine histone H3 2.1 Biological and endogenous factors Aetiology Child Cancer Brain Neoplasms Glioma Middle Aged Isocitrate Dehydrogenase Gene Expression Regulation Neoplastic ErbB Receptors diffuse midline glioma Child Preschool DIPG Female Adult X-linked Nuclear Protein Pediatric Research Initiative Adolescent Clinical Sciences Glycine histone H3.1 histone H3.3 Article Young Adult Rare Diseases HIST1H3B Genetics Humans Preschool astrocytoma Genetic Association Studies Aged Neoplastic Neurology & Neurosurgery PTEN Phosphohydrolase glioblastoma Neurosciences diffuse intrinsic pontine glioma Brain Disorders K27M mutation Brain Cancer Gene Expression Regulation Mutation Tumor Suppressor Protein p53 H3F3A |
| Zdroj: | Brain pathology (Zurich, Switzerland), vol 26, iss 5 Solomon, DA; Wood, MD; Tihan, T; Bollen, AW; Gupta, N; Phillips, JJJ; et al.(2016). Diffuse Midline Gliomas with Histone H3-K27M Mutation: A Series of 47 Cases Assessing the Spectrum of Morphologic Variation and Associated Genetic Alterations. Brain Pathology, 26(5), 569-580. doi: 10.1111/bpa.12336. UCSF: Retrieved from: http://www.escholarship.org/uc/item/8zj557h1 |
| DOI: | 10.1111/bpa.12336. |
| Popis: | © 2015 International Society of Neuropathology Somatic mutations of the H3F3A and HIST1H3B genes encoding the histone H3 variants, H3.3 and H3.1, were recently identified in high-grade gliomas arising in the thalamus, pons and spinal cord of children and young adults. However, the complete range of patients and locations in which these tumors arise, as well as the morphologic spectrum and associated genetic alterations remain undefined. Here, we describe a series of 47 diffuse midline gliomas with histone H3-K27M mutation. The 25 male and 22 female patients ranged in age from 2 to 65 years (median = 14). Tumors were centered not only in the pons, thalamus, and spinal cord, but also in the third ventricle, hypothalamus, pineal region and cerebellum. Patients with pontine tumors were younger (median = 7 years) than those with thalamic (median = 24 years) or spinal (median = 25 years) tumors. A wide morphologic spectrum was encountered including gliomas with giant cells, epithelioid and rhabdoid cells, primitive neuroectodermal tumor (PNET)-like foci, neuropil-like islands, pilomyxoid features, ependymal-like areas, sarcomatous transformation, ganglionic differentiation and pleomorphic xanthoastrocytoma (PXA)-like areas. In this series, histone H3-K27M mutation was mutually exclusive with IDH1 mutation and EGFR amplification, rarely co-occurred with BRAF-V600E mutation, and was commonly associated with p53 overexpression, ATRX loss (except in pontine gliomas), and monosomy 10. |
| Databáze: | OpenAIRE |
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