PMID- 34313881
OWN - NLM
STAT- MEDLINE
DCOM- 20220114
LR  - 20220114
IS  - 1861-387X (Electronic)
IS  - 1433-7398 (Linking)
VI  - 38
IP  - 4
DP  - 2021 Oct
TI  - Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by 
      methylation classification: a case report.
PG  - 283-289
LID - 10.1007/s10014-021-00412-3 [doi]
AB  - The most recurrent fusion of central nervous system high-grade neuroepithelial 
      tumor with MN1 alteration (HGNET-MN1) is MN1 rearrangement. Here, we report the 
      case of a 36-year-old man with spinal cord astroblastoma showing Ewing Sarcoma 
      breakpoint region 1/EWS RNA-binding protein 1 (EWSR1)-BEN domain-containing 2 
      (BEND2) fusion. The patient presented with back pain, gait disturbance and 
      dysesthesia in the lower extremities and trunk. Magnetic resonance imaging showed 
      an intramedullary tumor at the T3-5 level, displaying homogeneous gadolinium 
      enhancement. Partial tumor removal was performed with laminectomy. Histological 
      examinations demonstrated solid growth of epithelioid tumor cells showing high 
      cellularity, a pseudopapillary structure, intervening hyalinized fibrous stroma, 
      and some mitoses. Astroblastoma was diagnosed, classified as HGNET-MN1 by the 
      German Cancer Research Center methylation classifier. MN1 alteration was not 
      detected by fluorescence in situ hybridization (FISH), but EWSR1-BEND2 fusion was 
      detected by FISH and RNA sequencing. Previously, a child with EWSR1-BEND2 
      fusion-positive spinal astroblastoma classified as HGNET-MN1 was reported. In 
      conjunction with that, the present case provides evidence that EWSR1-BEND2 fusion 
      is identified in the entity of HGNET-MN1. Taken together, the BEND2 alteration 
      rather than MN1 may determine the biology of a subset of the central nervous 
      system HGNET-MN1 subclass.
CI  - (c) 2021. The Japan Society of Brain Tumor Pathology.
FAU - Tsutsui, Takeyoshi
AU  - Tsutsui T
AD  - Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 
      Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.
FAU - Arakawa, Yoshiki
AU  - Arakawa Y
AUID- ORCID: 0000-0003-4626-4645
AD  - Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 
      Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan. 
      yarakawa@kuhp.kyoto-u.ac.jp.
FAU - Makino, Yasuhide
AU  - Makino Y
AD  - Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 
      Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.
FAU - Kataoka, Hiroharu
AU  - Kataoka H
AD  - Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 
      Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.
FAU - Mineharu, Yohei
AU  - Mineharu Y
AD  - Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 
      Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.
FAU - Naito, Kentaro
AU  - Naito K
AD  - Department of Neurosurgery, Osaka City University Graduate School of Medicine, 
      Osaka, 545-8585, Japan.
FAU - Minamiguchi, Sachiko
AU  - Minamiguchi S
AD  - Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, 
      Kyoto, 606-8507, Japan.
FAU - Hirose, Takanori
AU  - Hirose T
AD  - Department of Diagnostic Pathology, Hyogo Cancer Center, Akashi, Hyogo, 673-8558, 
      Japan.
FAU - Nobusawa, Sumihito
AU  - Nobusawa S
AD  - Department of Human Pathology, Gunma University Graduate School of Medicine, 
      Gunma, 371-8514, Japan.
FAU - Nakano, Yoshiko
AU  - Nakano Y
AD  - Division of Brain Tumor Translational Research, National Cancer Center Research 
      Institute, Tokyo, 104-0045, Japan.
FAU - Ichimura, Koichi
AU  - Ichimura K
AD  - Division of Brain Tumor Translational Research, National Cancer Center Research 
      Institute, Tokyo, 104-0045, Japan.
FAU - Haga, Hironori
AU  - Haga H
AD  - Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, 
      Kyoto, 606-8507, Japan.
FAU - Miyamoto, Susumu
AU  - Miyamoto S
AD  - Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 
      Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.
LA  - eng
GR  - 19K09505 and 19K22685/the Ministry of Education, Culture, Sports, Science, and 
      Technology, Japan/
PT  - Case Reports
PT  - Journal Article
DEP - 20210727
PL  - Japan
TA  - Brain Tumor Pathol
JT  - Brain tumor pathology
JID - 9716507
RN  - 0 (Contrast Media)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (MN1 protein, human)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (Trans-Activators)
RN  - 0 (Tumor Suppressor Proteins)
RN  - AU0V1LM3JT (Gadolinium)
SB  - IM
MH  - Adult
MH  - *Contrast Media
MH  - Gadolinium
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Methylation
MH  - *Neoplasms, Neuroepithelial/genetics/surgery
MH  - RNA-Binding Protein EWS/genetics
MH  - Spinal Cord
MH  - Trans-Activators/genetics
MH  - Tumor Suppressor Proteins/genetics
OTO - NOTNLM
OT  - Astroblastoma
OT  - BEN domain-containing 2 (BEND2)
OT  - CNS high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1)
OT  - EWSR1-BEND2 fusion
OT  - Ewing Sarcoma breakpoint region 1/EWS RNA-binding protein 1 (EWSR1)
EDAT- 2021/07/28 06:00
MHDA- 2022/01/15 06:00
CRDT- 2021/07/27 12:31
PHST- 2021/04/24 00:00 [received]
PHST- 2021/07/15 00:00 [accepted]
PHST- 2021/07/28 06:00 [pubmed]
PHST- 2022/01/15 06:00 [medline]
PHST- 2021/07/27 12:31 [entrez]
AID - 10.1007/s10014-021-00412-3 [pii]
AID - 10.1007/s10014-021-00412-3 [doi]
PST - ppublish
SO  - Brain Tumor Pathol. 2021 Oct;38(4):283-289. doi: 10.1007/s10014-021-00412-3. Epub 
      2021 Jul 27.