Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas

Patient Guideline Summary

Publication Date: February 17, 2022

Objective

Objective

This patient summary means to discuss key recommendations from the College of American Pathologists in collaboration with the American Association of Neuropathologists, Association for Molecular Pathology, and Society for Neuro-Oncology for molecular biomarker testing for the diagnosis of diffuse gliomas.

Overview

Overview

  • Diffuse glioma is a brain and spinal cord cancer that intertwines (mixes in) with normal nerve cells, making it impossible to remove with surgery.
  • We will use the abbreviation DG throughout this summary to refer to diffuse gliomas.
  • These tumors affect patients of all ages. They are caused by genetic mutations.
  • Symptoms reflect the part of the nervous system involved.
  • This patient summary focuses on testing to characterize each individual case.

Diagnosis

Diagnosis

  • The nature of DGs varies greatly. Therefore, the course of the disease and its treatment also vary.
  • Note: MRI Imaging identifies the location, size, and shape of the tumor.
  • Molecular testing identifies abnormal genes and gene products (proteins)
    • Molecular testing must be done on all DGs.
    • Molecular testing requires a small biopsy specimen.
    • The Guideline lists 21 molecules that are found in DGs.
    • Testing is sequential; each test result leads to another until a final diagnosis is reached.

Treatment

Treatment

  • Treatment is either medical (chemotherapy or targeted agents) or radiologic or both, depending on the results of molecular testing.

Abbreviations

  • DG: Diffuse Glioma

Source Citation

Brat DJ, Aldape K, Bridge JA, Canoll P, Colman H, Hameed MR, Harris BT, Hattab EM, Huse JT, Jenkins RB, Lopez-Terrada DH, McDonald WC, Rodriguez FJ, Souter LH, Colasacco C, Thomas NE, Yount MH, van den Bent MJ, Perry A. Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas. Arch Pathol Lab Med. 2022 Feb 17. doi: 10.5858/arpa.2021-0295-CP. Epub ahead of print. PMID: 35175291.

Disclaimer

The information in this patient summary should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.