Paediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangement

被引：10

作者：

Rossi, Sabrina ^{[1
]}

Barresi, Sabina ^{[1
]}

Colafati, Giovanna Stefania ^{[2
]}

Giovannoni, Isabella ^{[1
]}

Miele, Evelina ^{[3
]}

Alesi, Viola ^{[4
]}

Cacchione, Antonella ^{[3
]}

Diomedi-Camassei, Francesca ^{[1
]}

Macari, Gabriele ^{[5
]}

Antonelli, Manila ^{[6
]}

Carboni, Alessia ^{[2
]}

Carai, Andrea ^{[7
]}

Mastronuzzi, Angela ^{[3
]}

Giangaspero, Felice ^{[6
,8
]}

Gessi, Marco ^{[9
]}

Alaggio, Rita ^{[1
]}

机构：

[1] IRCCS, Bambino Gesu Childrens Hosp, Dept Labs, Pathol Unit, Rome, Italy

[2] IRCCS, Bambino Gesu Childrens Hosp, Imaging Dept, Neuroradiol Unit, Rome, Italy

[3] IRCCS, Bambino Gesu Childrens Hosp, Dept Oncohematol Cell Therapy Gene Therapies & He, Rome, Italy

[4] IRCCS, Bambino Gesu Childrens Hosp, Translat Cytogen Res Unit, Lab Med Genet, Rome, Italy

[5] IRCCS, Bambino Gesu Childrens Hosp, GenomeUp Srl, Rome, Italy

[6] Univ Roma La Sapienza, Dept Radiol Oncol & Anat Pathol, Rome, Italy

[7] IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Neurosurg Unit, Rome, Italy

[8] IRCCS Neuromed, Isernia, Italy

[9] Univ Cattolica S Cuore, Fdn Policlin Univ A Gemelli IRCCS, Pathol Div, Neuropathol Unit, Rome, Italy

来源：

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY | 2022年 / 48卷 / 05期

关键词：

astroblastoma-like neuroepithelial tumour; EWSR1-BEND2; fusion; high grade glioma; MAMLD1-BEND2; spinal cord; CLASSIFICATION;

D O I：

10.1111/nan.12814

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Astroblastomas are neuroepithelial tumours defined by the presence of MN1 rearrangement and are typically located in the cerebral hemispheres. Rare cases of astroblastoma-like tumours carrying an EWSR1-BEND2 fusion have been recently described in the brain stem and spinal cord. We report a paediatric case of neuroepithelial astroblastoma-like tumour occurring in the spine and carrying a novel MAMLD1-BEND2 fusion. We believe that our case aligns with the rare astroblastoma-like tumours with EWSR1-BEND2 fusion, in terms of non-hemispheric location, pathology, methylation profile and activation of BEND2 transcription. Whether they may represent a distinct entity or a variant of MN1-altered astroblastoma is not clear.

引用

页数：5

共 23 条

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Walker, Erin N.
Laws, Maxwell T.
Cozzi, Francesca
Quezado, Martha
Brown, Desmond A.
Burton, Eric C.
NEUROPATHOLOGY, 2024, 44 (04) : 278 - 284
[2] Spinal cord astroblastoma with an EWSR1-BEND2 fusion classified as a high-grade neuroepithelial tumour with MN1 alteration
Yamasaki, K.
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NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2020, 46 (02) : 190 - 193
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Tsutsui, Takeyoshi
Arakawa, Yoshiki
Makino, Yasuhide
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NEURO-ONCOLOGY, 2020, 22 : 429 - 429
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Sun, Dongjin
Liu, Jing
Xiao, Liling
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CLINICAL NEUROPATHOLOGY, 2023, 42 (01) : 30 - 39
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Tsutsui, Takeyoshi
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NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2024, 50 (05)
[8] Spinal Cord Astroblastoma With EWSR1-BEND2 Fusion in Female Patients: A Report of Four Cases From China and a Comprehensive Literature Review
Fu, Lingyi
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Yuan, Lei
Li, Ziteng
Li, Shuo
Hu, Wanming
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AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2024, 48 (11) : 1372 - 1380
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Anna Burford
Alan Mackay
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Aimee Avery
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Timothy E. Hassall
Thomas Robertson
Chris Jones
Scientific Reports, 8
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Hassall, Timothy E.
Robertson, Thomas
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SCIENTIFIC REPORTS, 2018, 8

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