By Amanda Saratsis, MD, FAANS, FCNS – Senior Director, Global Medical Affairs, Oncology, Jazz Pharmaceuticals
Each May, Brain Cancer Awareness Month offers an opportunity to spotlight one of oncology’s most complex and underserved areas: brain and other central nervous system (CNS) cancers. While progress has been made in precision medicine and neuro‑oncology in recent years, patients with rare brain tumors continue to face systemic barriers that delay diagnosis, limit access to care, and restrict treatment options—often with devastating consequences.
Rare brain tumors, such as diffuse midline glioma (DMG), are defined not only by low incidence, but by extraordinary anatomic and biological complexity. Many are driven by distinct molecular alterations that cannot be identified through imaging or traditional histopathology alone. As a result, comprehensive biomarker testing has become mandatory for accurate diagnosis, prognostication, and treatment planning for both primary and metastatic CNS tumors. Without timely and thorough molecular profiling, tumors may be misclassified or incorrectly graded, leading to inappropriate treatment decisions, lost eligibility for clinical trials, and missed access to life‑extending or life‑saving therapies.
Despite its status as standard of care, access to molecular testing remains inconsistent—particularly outside major academic centers. Testing results can take two to three weeks to obtain, while treatment is ideally initiated within two weeks following surgery. These timelines leave little margin for delay.
| Brain Cancer Awareness Month is a great opportunity to increase awareness of the need for diagnostic molecular testing for these patients. In the case of DMG, the presence of a critical oncogenic mutation, H3 K27M, confers poorer prognosis and response to standard therapy, but also helps guide treatment decisions. Hence, there is a critical need for biomarker detection—to ensure accurate molecular tumor diagnosis and patient eligibility for potential treatments. To achieve this, both patients and clinicians need greater awareness of the critical impact of biomarker testing on patient clinical outcomes, as well as early access to molecular testing. |
Jazz_4x3.jpg
|
Recent research advancements have led to new insights into the biology of these complex tumors, providing hope for patients and their families as we look to the future. Researchers and clinicians are increasingly understanding these tumors at an astonishing level of detail. In the case of DMG, the recent confluence of increased availability of fresh tumor tissue for analysis due to improved surgical techniques enabling safe tissue biopsy for these deep-seated tumors with advancements in molecular profiling technologies to analyze these rare specimens has dramatically accelerated our knowledge and understanding of this disease. The hope is that this knowledge will allow us to better address the specific drivers of DMG and identify vulnerabilities that can be attacked with new, targeted treatments.
Despite this exciting progress, there is still more work to be done to raise awareness among health care professionals and patients about the importance of molecular testing and diagnosis, in particular for H3 K27M and other prevalent, targetable mutations, to inform treatment for glioma patients.
As research progresses, molecular testing represents a critical opportunity to help ensure patients are pointed to the right treatments early on in their journey. An exciting development is the recently demonstrated ability to detect cell-free circulating tumor DNA (ctDNA) released into the cerebrospinal fluid (CSF) of brain tumor patients.
Techniques to sequence and measure critical mutations, including H3 K27M, in these “liquid biopsy” specimens represents a new opportunity to potentially diagnose and monitor patients over time without necessarily needing multiple tumor biopsies or brain surgeries. This approach represents the next frontier in molecular testing for brain tumor diagnosis and management, with the opportunity to minimize risk to patients and improve clinical outcomes via precision stratification to molecular-targeted treatment. Innovative treatment options like targeted therapy and advanced molecular diagnostic techniques are opening new doors for patients, and their impact grows when molecular testing is part of the patient journey.