Concurrent TERT promoter and BRAF V600E mutation in epithelioid glioblastoma and concomitant low-grade astrocytoma.
Epithelioid glioblastoma (E-GBM) is a rare variant of glioblastoma (GBM), characterized by epithelioid cells with eosinophilic round cytoplasm devoid of stellate cytoplasmic processes. A number of studies have demonstrated that more than half of E-GBMs harbor a valine to glutamic acid substitution at position 600 of the serine/threonine-protein kinase BRAF (BRAF V600E). However, there are no previous reports on E-GBM with telomerase reverse transcriptase (TERT) promoter mutation in addition to BRAF V600E mutation. Here, we report an E-GBM case in an 18-year-old man with BRAF V600E and TERT promoter mutations. The tumor composed of 80% E-GBM and 20% diffuse astrocytoma-like components, and BRAF V600E and TERT promoter mutations were detected in both. E-GBM generally arises as a primary lesion; however, a few previous cases have been demonstrated to accompany low-grade areas. Demonstration of concurrent BRAF V600E and TERT promoter mutations in low- and high-grade lesions strongly suggested their identical origin, and acquisition of each mutation may be an early event, possibly playing a pivotal role in the genesis and subsequent progression to E-GBM.
Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Nozomi
N
Matsumura
Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Nozomi
N
Nakajima
Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Tatsuya
T
Yamazaki
Department of Neurosurgery, Ohta Memorial Hospital, Ohta, Japan.
Takuro
T
Nagano
Department of Neurosurgery, Ohta Memorial Hospital, Ohta, Japan.
Kaie
K
Kagoshima
Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Sumihito
S
Nobusawa
Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Hayato
H
Ikota
Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Hideaki
H
Yokoo
D000293:Adolescent; D018906:Antineoplastic Agents, Alkylating / Q000627:therapeutic use; D001254:Astrocytoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D001932:Brain Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D016371:Cranial Irradiation; D003606:Dacarbazine / Q000031:analogs & derivatives / Q000627:therapeutic use; D017809:Fatal Outcome; D005909:Glioblastoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D019635:Neurosurgical Procedures; D011401:Promoter Regions, Genetic; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D019098:Telomerase / Q000235:genetics*; D000077204:Temozolomide; D013702:Temporal Lobe / Q000000981:diagnostic imaging* / Q000473:pathology* / Q000601:surgery
D018906:Antineoplastic Agents, Alkylating; D003606:Dacarbazine; D048493:Proto-Oncogene Proteins B-raf; D019098:Telomerase; D000077204:Temozolomide
BRAF; TERT promoter; epithelioid glioblastoma; low-grade astrocytoma; tumorigenesis