Molecular Pathology of Brain Tumors

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: 30 April 2025 | Viewed by 1258

Special Issue Editor


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Guest Editor
Department of Anatomical and Cellular Pathology, Chinese University of Hong Kong, Sha Tin, Hong Kong, China
Interests: molecular pathology; brain tumors; translational research

Special Issue Information

Dear Colleagues,

CNS tumors are cancers with the worst prognosis among the common cancers, and they are the most important cause of cancer death in children. Since the publication of the WHO Classification of CNS tumors (2021), the molecular pathology of brain tumors has become a critical diagnostic, prognostic, and treatment-predictive biomarker. Newer techniques, like AI or long-read sequencing, impact the way histological and molecular data are interpreted. In this Special Issue, we bring together experts on the following areas: the molecular pathology of pediatric primary CNS lymphoma, from researchers in Hong Kong; the relationship between MGMT hypermethylation and necrosis, a key histological feature of glioblastoma, from researchers in Sydney; AI and histology and molecular pathology of brain tumors, from researchers in Vancouver; and long-read sequencing to discover structural variants in pediatric brain tumors and how NTRK fusion impacts the results of the use of NTRK inhibitors in both children and adults, from researchers in Seoul.

Prof. Dr. Ho-Keung NG
Guest Editor

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Keywords

  • molecular pathology
  • brain tumors
  • AI
  • biomarkers
  • histopathology

Published Papers (2 papers)

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17 pages, 5709 KiB  
Article
The Molecular Landscape of Primary CNS Lymphomas (PCNSLs) in Children and Young Adults
by Zhi-Feng Shi, Kay Ka-Wai Li, Anthony Pak-Yin Liu, Nellie Yuk-Fei Chung, Sze-Ching Wong, Hong Chen, Peter Yat-Ming Woo, Danny Tat-Ming Chan, Ying Mao and Ho-Keung Ng
Cancers 2024, 16(9), 1740; https://doi.org/10.3390/cancers16091740 - 29 Apr 2024
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Abstract
Pediatric brain tumors are often noted to be different from their adult counterparts in terms of molecular features. Primary CNS lymphomas (PCNSLs) are mostly found in elderly adults and are uncommon in children and teenagers. There has only been scanty information about the [...] Read more.
Pediatric brain tumors are often noted to be different from their adult counterparts in terms of molecular features. Primary CNS lymphomas (PCNSLs) are mostly found in elderly adults and are uncommon in children and teenagers. There has only been scanty information about the molecular features of PCNSLs at a young age. We examined PCNSLs in 34 young patients aged between 7 and 39 years for gene rearrangements of BCl2, BCL6, CCND1, IRF4, IGH, IGL, IGK, and MYC, homozygous deletions (HD) of CDKN2A, and HLA by FISH. Sequencing was performed using WES, panel target sequencing, or Sanger sequencing due to the small amount of available tissues. The median OS was 97.5 months and longer than that for older patients with PCNSLs. Overall, only 14 instances of gene rearrangement were found (5%), and patients with any gene rearrangement were significantly older (p = 0.029). CDKN2A HD was associated with a shorter OS (p < 0.001). Only 10/31 (32%) showed MYD88 mutations, which were not prognostically significant, and only three of them were L265P mutations. CARD11 mutations were found in 8/24 (33%) cases only. Immunophenotypically, the cases were predominantly GCB, in contrast to older adults (61%). In summary, we showed that molecular findings identified in the PCNSLs of the older patients were only sparingly present in pediatric and young adult patients. Full article
(This article belongs to the Special Issue Molecular Pathology of Brain Tumors)
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Review
The Evolving Classification of Meningiomas: Integration of Molecular Discoveries to Inform Patient Care
by S. Joy Trybula, Mark W. Youngblood, Constantine L. Karras, Nikhil K. Murthy, Amy B. Heimberger, Rimas V. Lukas, Sean Sachdev, John A. Kalapurakal, James P. Chandler, Daniel J. Brat, Craig M. Horbinski and Stephen T. Magill
Cancers 2024, 16(9), 1753; https://doi.org/10.3390/cancers16091753 - 30 Apr 2024
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Abstract
Meningioma classification and treatment have evolved over the past eight decades. Since Bailey, Cushing, and Eisenhart’s description of meningiomas in the 1920s and 1930s, there have been continual advances in clinical stratification by histopathology, radiography and, most recently, molecular profiling, to improve prognostication [...] Read more.
Meningioma classification and treatment have evolved over the past eight decades. Since Bailey, Cushing, and Eisenhart’s description of meningiomas in the 1920s and 1930s, there have been continual advances in clinical stratification by histopathology, radiography and, most recently, molecular profiling, to improve prognostication and predict response to therapy. Precise and accurate classification is essential to optimizing management for patients with meningioma, which involves surveillance imaging, surgery, primary or adjuvant radiotherapy, and consideration for clinical trials. Currently, the World Health Organization (WHO) grade, extent of resection (EOR), and patient characteristics are used to guide management. While these have demonstrated reliability, a substantial number of seemingly benign lesions recur, suggesting opportunities for improvement of risk stratification. Furthermore, the role of adjuvant radiotherapy for grade 1 and 2 meningioma remains controversial. Over the last decade, numerous studies investigating the molecular drivers of clinical aggressiveness have been reported, with the identification of molecular markers that carry clinical implications as well as biomarkers of radiotherapy response. Here, we review the historical context of current practices, highlight recent molecular discoveries, and discuss the challenges of translating these findings into clinical practice. Full article
(This article belongs to the Special Issue Molecular Pathology of Brain Tumors)
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