Exploring a distinct FGFR2::DLG5 rearrangement in a low-grade neuroepithelial tumor: A case report and mini-review of protein fusions in brain tumors

被引：1

作者：

Palacio, Paola Loreto ^{[1
]}

Pan, Xiaokang ^{[2
]}

Jones, Dan ^{[3
]}

Otero, Jose Javier ^{[4
,5
]}

机构：

[1] Nationwide Childrens Hosp, Abigail Wexner Ctr Res Inst, Columbus, OH USA

[2] James Canc Hosp, James Mol Lab, Columbus, OH USA

[3] Ohio State Univ, Comprehens Canc Ctr, Columbus, OH USA

[4] Ohio State Univ, Wexner Med Ctr, Pathol Dept, Neuropathol Div, Columbus, OH USA

[5] Coll Med, Neuropathol Dept, 333 W 10th Ave, 4171 Graves Hall, Columbus, OH 43210 USA

来源：

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | 2024年 / 83卷 / 07期

关键词：

Brain tumor; FGFR2; FGFR2::DLG5 fusion; Low-grade neuroepithelial tumor; GROWTH-FACTOR RECEPTORS; GENE FUSION; PILOCYTIC ASTROCYTOMAS; ACQUIRED-RESISTANCE; PROSTATE-CANCER; CELL POLARITY; MAPK PATHWAY; ACTIVATION; FGFR; MUTATIONS;

D O I：

10.1093/jnen/nlae040

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the novel clinical presentation of a primary brain neoplasm in a 30-year-old man with a mass-like area in the anteromedial temporal lobe. Histopathological analysis revealed a low-grade neuroepithelial tumor with cytologically abnormal neurons and atypical glial cells within the cerebral cortex. Molecular analysis showed a previously undescribed FGFR2::DLG5 rearrangement. We discuss the clinical significance and molecular implications of this fusion event, shedding light on its potential impact on tumor development and patient prognosis. Additionally, an extensive review places the finding in this case in the context of protein fusions in brain tumors in general and highlights their diverse manifestations, underlying molecular mechanisms, and therapeutic implications.

引用

页码：567 / 578

页数：12

共 106 条

[1] Paths of FGFR-driven tumorigenesis [J].

Acevedo, Victor D. ;

Ittmann, Michael ;

Spencer, David M. .

CELL CYCLE, 2009, 8 (04) :580-588

[2]

Al-Mansoori Layla, 2020, Oncotarget, V11, P619, DOI 10.18632/oncotarget.27478

[3] NTRK gene fusions as novel targets of cancer therapy across multiple tumour types [J].

Amatu, Alessio ;

Sartore-Bianchi, Andrea ;

Siena, Salvatore .

ESMO OPEN, 2016, 1 (02)

[4] Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features [J].

Andreiuolo, Felipe ;

Varlet, Pascale ;

Tauziede-Espariat, Arnault ;

Juenger, Stephanie T. ;

Doerner, Evelyn ;

Dreschmann, Verena ;

Kuchelmeister, Klaus ;

Waha, Andreas ;

Haberler, Christine ;

Slavc, Irene ;

Corbacioglu, Selim ;

Riemenschneider, Markus J. ;

Leipold, Alfred ;

Ruediger, Thomas ;

Koerholz, Dieter ;

Acker, Till ;

Russo, Alexandra ;

Faber, Joerg ;

Sommer, Clemens ;

Armbrust, Sven ;

Rose, Martina ;

Erdlenbruch, Bernhard ;

Hans, Volkmar H. ;

Bernbeck, Benedikt ;

Schneider, Dominik ;

Lorenzen, Johann ;

Ebinger, Martin ;

Handgretinger, Rupert ;

Neumann, Manuela ;

van Buiren, Miriam ;

Prinz, Marco ;

Roganovic, Jelena ;

Jakovcevic, Antonia ;

Park, Sung-Hye ;

Grill, Jacques ;

Puget, Stephanie ;

Messing-Juenger, Martina ;

Reinhard, Harald ;

Bergmann, Markus ;

Hattingen, Elke ;

Pietsch, Torsten .

BRAIN PATHOLOGY, 2019, 29 (02) :205-216

[5] ZFTA-RELA Dictates Oncogenic Transcriptional Programs to Drive Aggressive Supratentorial Ependymoma [J].

Arabzade, Amir ;

Zhao, Yanhua ;

Varadharajan, Srinidhi ;

Chen, Hsiao-Chi ;

Jessa, Selin ;

Rivas, Bryan ;

Stuckert, Austin J. ;

Solis, Minerva ;

Kardian, Alisha ;

Tlais, Dana ;

Golbourn, Brian J. ;

Stanton, Ann-Catherine J. ;

Chan, Yuen San ;

Olson, Calla ;

Karlin, Kristen L. ;

Kong, Kathleen ;

Kupp, Robert ;

Hu, Baoli ;

Injac, Sarah G. ;

Ngo, Madeline ;

Wang, Peter R. ;

De Leon, Luz A. ;

Sahm, Felix ;

Kawauchi, Daisuke ;

Pfister, Stefan M. ;

Lin, Charles Y. ;

Hodges, H. Courtney ;

Singh, Irtisha ;

Westbrook, Thomas F. ;

Chintagumpala, Murali M. ;

Blaney, Susan M. ;

Parsons, Donald W. ;

Pajtler, Kristian W. ;

Agnihotri, Sameer ;

Gilbertson, Richard J. ;

Yi, Joanna ;

Jabado, Nada ;

Kleinman, Claudia L. ;

Bertrand, Kelsey C. ;

Deneen, Benjamin ;

Mack, Stephen C. .

CANCER DISCOVERY, 2021, 11 (09) :2200-2215

[6] Multinodular and Vacuolating Neuronal Tumor: Incidental Diagnosis of a Rare Brain Lesion [J].

Arbuiso, Sophia ;

Roster, Katie ;

Gill, Amanpreet ;

Tarawneh, Omar ;

Cole, Kyril L. ;

Kazim, Syed Faraz ;

Vellek, John ;

Schmidt, Meic H. ;

Bowers, Christian A. .

CUREUS JOURNAL OF MEDICAL SCIENCE, 2021, 13 (12)

[7] KIAA1549-BRAF Fusions and IDH Mutations Can Coexist in Diffuse Gliomas of Adults [J].

Badiali, Manuela ;

Gleize, Vincent ;

Paris, Sophie ;

Moi, Loredana ;

Elhouadani, Selma ;

Arcella, Antonietta ;

Morace, Roberta ;

Antonelli, Manila ;

Buttarelli, Francesca Romana ;

Figarella-Branger, Dominique ;

Kim, Young-Ho ;

Ohgaki, Hiroko ;

Mokhtari, Karima ;

Sanson, Marc ;

Giangaspero, Felice .

BRAIN PATHOLOGY, 2012, 22 (06) :841-847

[8] Ethical, Legal, and Social Issues in the Translation of Genomics Into Health Care [J].

Badzek, Laurie ;

Henaghan, Mark ;

Turner, Martha ;

Monsen, Rita .

JOURNAL OF NURSING SCHOLARSHIP, 2013, 45 (01) :15-24

[9] Mechanisms of Cancer Resistance to Immunotherapy [J].

Bai, Rilan ;

Chen, Naifei ;

Li, Lingyu ;

Du, Nawen ;

Bai, Ling ;

Lv, Zheng ;

Tian, Huimin ;

Cui, Jiuwei .

FRONTIERS IN ONCOLOGY, 2020, 10

[10] FGFR- gene family alterations in low-grade neuroepithelial tumors [J].

Bale, Tejus A. .

ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2020, 8 (01)

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