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Molecular Testing of Brain Tumor.

Sung-Hye Park1,2, Jaekyung Won1, Seong-Ik Kim1

  • 1Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea.

Journal of Pathology and Translational Medicine
|May 24, 2017
PubMed
Summary

Molecular genetic testing is crucial for accurate brain tumor diagnosis and management, guiding classification based on specific gene mutations and copy number variations. These tests, including next-generation sequencing, are essential for predicting tumor behavior and selecting therapies.

Keywords:
Brain neoplasmsMolecular biologyNext generation sequencingPathological diagnosis

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Area of Science:

  • Neuropathology and Molecular Genetics
  • Central Nervous System (CNS) Oncology
  • Diagnostic Pathology

Background:

  • The 2016 World Health Organization (WHO) classification of CNS tumors integrates molecular genetics for diagnosis.
  • Accurate classification and management of brain tumors increasingly rely on molecular genetic profiling.
  • Routine pathological practice requires updated guidelines for molecular genetic testing.

Purpose of the Study:

  • To provide guidelines for molecular genetic testing in routine neuropathological practice for CNS tumors.
  • To detail diagnostic algorithms for classifying various brain tumors based on genetic alterations.
  • To highlight the role of molecular genetics in predicting tumor behavior and guiding patient management.

Main Methods:

  • Review of global guidelines and diagnostic algorithms for molecular genetic testing of brain tumors.
  • Focus on integrated diagnosis incorporating molecular genetics alongside traditional histopathology.
  • Emphasis on cost-effective, high-throughput testing methods like next-generation sequencing.

Main Results:

  • Specific genetic markers (e.g., IDH mutations, 1p/19q codeletion, EGFR copy number variations) characterize different tumor types (astrocytomas, glioblastomas, oligodendrogliomas).
  • Pediatric gliomas exhibit distinct genetic profiles (e.g., H3 K27M, BRAF mutations) compared to adult gliomas.
  • Low-grade pediatric neuroepithelial tumors often show alterations in BRAF and MYB pathways.
  • Ependymomas, embryonal tumors, and other CNS neoplasms possess significant genetic alterations with diagnostic and therapeutic implications.

Conclusions:

  • Molecular genetic testing is indispensable for the accurate classification and management of CNS tumors.
  • Identifying specific gene abnormalities aids in predicting prognosis and selecting targeted therapies.
  • Standardized guidelines and advanced molecular techniques are crucial for effective neuropathological evaluation.