Biomaterial Database

BRAF V600E mutant oligodendroglioma-like tumors with chromosomal instability in adolescents and young adults. 2020

Kohei Fukuoka, and Yasin Mamatjan, and Scott Ryall, and Martin Komosa, and Julie Bennett, and Michal Zapotocky, and Julia Keith, and Sten Myrehaug, and Lili-Naz Hazrati, and Kenneth Aldape, and Norm Laperriere, and Eric Bouffet, and Uri Tabori, and Cynthia Hawkins

Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.

We performed genome-wide methylation analysis on 136 pediatric low-grade gliomas, identifying a unique cluster consisting of three tumors with oligodendroglioma-like histology, BRAF p.V600E mutations and recurrent whole chromosome gains of 7 and loss of 10. Morphologically, all showed similar features, including a diffusely infiltrative glioma composed of round nuclei with perinuclear halos, a chicken-wire pattern of branching capillaries and microcalcification. None showed astrocytic features or characteristics suggestive of high-grade tumors including necrosis or mitotic figures. All tumors harbored multiple chromosomal copy number abnormalities (>10 chromosomes altered), but none showed 1p/19q co-deletion or IDH1 p.R132H mutation. Hierarchical clustering and t-stochastic neighbor embedding analyses from DNA methylation data cluster them more closely to previously described pediatric-type low-grade gliomas and separate from adult gliomas. These tumors exhibit distinct clinical features; they are temporal lobe lesions occurring in adolescents and young adults with a prolonged history of seizures and all are alive with no recurrence (follow-up 3.2 to 13.2 years). We encountered another young adult case with quite similar pathological appearance and molecular status except for TERT promoter mutation. Although the series is small, these may represent a new category of IDH wild-type low-grade gliomas which may be confused with "molecular GBM." Further, they highlight the heterogeneity of IDH wild-type gliomas and the relatively indolent behavior of "pediatric-type" gliomas.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009837	Oligodendroglioma	A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)	Oligodendroblastoma,Anaplastic Oligodendroglioma,Mixed Oligodendroglioma-Astrocytoma,Mixed Oligodendroglioma-Ependymoma,Oligodendroglioma, Adult,Oligodendroglioma, Childhood,Oligodendroglioma, Well-Differentiated,Well-Differentiated Oligodendroglioma,Adult Oligodendroglioma,Adult Oligodendrogliomas,Anaplastic Oligodendrogliomas,Childhood Oligodendroglioma,Childhood Oligodendrogliomas,Mixed Oligodendroglioma Astrocytoma,Mixed Oligodendroglioma Ependymoma,Mixed Oligodendroglioma-Astrocytomas,Mixed Oligodendroglioma-Ependymomas,Oligodendroblastomas,Oligodendroglioma, Anaplastic,Oligodendroglioma, Well Differentiated,Oligodendroglioma-Astrocytoma, Mixed,Oligodendroglioma-Astrocytomas, Mixed,Oligodendroglioma-Ependymoma, Mixed,Oligodendroglioma-Ependymomas, Mixed,Oligodendrogliomas,Oligodendrogliomas, Adult,Oligodendrogliomas, Anaplastic,Oligodendrogliomas, Childhood,Oligodendrogliomas, Well-Differentiated,Well Differentiated Oligodendroglioma,Well-Differentiated Oligodendrogliomas
D001932	Brain Neoplasms	Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.	Brain Cancer,Brain Metastases,Brain Tumors,Cancer of Brain,Malignant Primary Brain Tumors,Neoplasms, Intracranial,Benign Neoplasms, Brain,Brain Neoplasm, Primary,Brain Neoplasms, Benign,Brain Neoplasms, Malignant,Brain Neoplasms, Malignant, Primary,Brain Neoplasms, Primary Malignant,Brain Tumor, Primary,Brain Tumor, Recurrent,Cancer of the Brain,Intracranial Neoplasms,Malignant Neoplasms, Brain,Malignant Primary Brain Neoplasms,Neoplasms, Brain,Neoplasms, Brain, Benign,Neoplasms, Brain, Malignant,Neoplasms, Brain, Primary,Primary Brain Neoplasms,Primary Malignant Brain Neoplasms,Primary Malignant Brain Tumors,Benign Brain Neoplasm,Benign Brain Neoplasms,Benign Neoplasm, Brain,Brain Benign Neoplasm,Brain Benign Neoplasms,Brain Cancers,Brain Malignant Neoplasm,Brain Malignant Neoplasms,Brain Metastase,Brain Neoplasm,Brain Neoplasm, Benign,Brain Neoplasm, Malignant,Brain Neoplasms, Primary,Brain Tumor,Brain Tumors, Recurrent,Cancer, Brain,Intracranial Neoplasm,Malignant Brain Neoplasm,Malignant Brain Neoplasms,Malignant Neoplasm, Brain,Neoplasm, Brain,Neoplasm, Intracranial,Primary Brain Neoplasm,Primary Brain Tumor,Primary Brain Tumors,Recurrent Brain Tumor,Recurrent Brain Tumors,Tumor, Brain
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D043171	Chromosomal Instability	An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.	Chromosomal Stability,Chromosome Instability,Chromosome Stability,Chromosomal Instabilities,Chromosomal Stabilities,Chromosome Instabilities,Chromosome Stabilities,Instabilities, Chromosomal,Instabilities, Chromosome,Instability, Chromosomal,Instability, Chromosome,Stabilities, Chromosomal,Stabilities, Chromosome,Stability, Chromosomal,Stability, Chromosome