H3 G34-mutant high-grade glioma
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ORIGINAL ARTICLE
H3 G34‑mutant high‑grade glioma Ka Young Lim1 · Jae Kyung Won1,5 · Chul‑Kee Park2,5 · Seung‑Ki Kim2,5 · Seung Hong Choi3,5 · Taemin Kim4,5 · Hongseok Yun5 · Sung‑Hye Park1,5,6 Received: 23 June 2020 / Accepted: 31 July 2020 © The Japan Society of Brain Tumor Pathology 2020
Abstract H3F3A G34 (H3.3 G34)-mutant high-grade gliomas (HGG) are rare, and newly recognized infiltrating gliomas of the cerebral hemisphere. Here, we report the clinicopathological and molecular characteristics of four H3.3 G34-mutant gliomas in terms of its biological behavior compared to those of glioblastomas (GBMs) and H3 K27M-mutant diffuse midline gliomas (DMGs) of our hospital. The median age of the four patients with H3.3 G34 HGG was 44.5 years (14–66 years). Three patients had tumors in the cerebral hemisphere, whereas one patient had synchronous double tumors in the cerebral hemisphere and posterior fossa. All these tumors were high-grade glioma, but neither microvascular proliferation nor necrosis. They displayed uniform genetic and epigenetic signatures; ATRX-mutant, MGMT promoter-methylated, Olig2-negative, but IDH- and TERT promoter-wildtype. The median survival rate of H3.3 G34-mutant HGGs, IDH-was 23.5 months. In conclusion, H3.3 G34-mutant gliomas were unique HGGs with uniform genetic and epigenetic abnormalities, which suggested a single phylogenic origin. The median survival of H3.3 G34-mutant HGGs was better than those of IDH-wildtype GBMs and H3 K27M-mutant DMGs, but worse than that of IDH-mutant GBM. The tumor-infiltrating area and resectability may be the crucial parameters for the prognosis of the patients. Keywords Diffuse glioma · Glioblastoma · High grade glioma · H3.3 G34 · Survival Abbreviations ATRX Alpha Thalassemia/Mental Retardation Syndrome X BWA Burrows–Wheeler aligner Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10014-020-00378-8) contains supplementary material, which is available to authorized users. * Sung‑Hye Park [email protected] 1
Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
2
Department of Neurosurgery, Seoul National University Hospital, College of Medicine, Seoul, Republic of Korea
3
Department of Radiology, Seoul National University Hospital, College of Medicine, Seoul, Republic of Korea
4
Department of Internal Medicine, Seoul National University Hospital, College of Medicine, Seoul, Republic of Korea
5
Center for Precision Medicine, Seoul National University Hospital, College of Medicine, Seoul, Republic of Korea
6
Institute of Neuroscience, Seoul National University College of Medicine, Seoul, Republic of Korea
CCRT Chemotherapy and radiation treatment CDKN2A Cyclin dependent kinase inhibitor 2A CNV Copy number variants DAXX Death domain associated protein EGFR Epidermal growth factor receptor GATK Genome analysis toolkit BAM Binary alignment MAP GBM Glioblastoma GTR Gross total resection HGG High-gra
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