Recent advances in subtyping tumors of the central nervous system using molecular data

ABSTRACT

Introduction: Primary brain tumors account for substantial morbidity and mortality. They often infiltrate the brain diffusely, continue growing, and cause adverse events, such as headaches, seizures, and neurological deficits. The classification of primary brain tumors, based for decades on histology, has been fundamentally changed by the World Health Organization in 2016 by incorporation of molecular data.

Areas covered: Literature from glioblastomas, high- and low-grade astrocytic, oligodendroglial, glioneuronal and ependymal tumors from the last five years were reviewed. Results from comprehensive molecular profiling of neoplasms and impact of recent molecular subtyping on neuropathological diagnosis are presented.

Expert commentary: The identification of frequent acquired mutations shows that adult and pediatric glioblastomas have divergent biology with differing prognoses. Astrocytoma and oligodendroglioma are more closely related than previously thought. Molecular profiling now enables the precise classification of most diffuse gliomas into three clinically and therapeutically different subtypes according to the presence or absence of IDH mutation and 1p/19q codeletion. New subgroups with different clinical outcomes and anatomic locations have emerged in ependymomas and pediatric embryonal tumors.

KEYWORDS:

• Glioma
• IDH
• ATRX
• TERT
• H3F3A
• BRAF
• 1p/19q codeletion

Declaration of interest

J. Schittenhelm is supported by a grant (D.30.19845) from the Else Übelmesser Foundation for Applied Cancer Research; Tübingen, Germany. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. Writing assistance was utilised in the preparation of this manuscript, it was funded by the Department of Pathology and Neuropathology, University of Tuebingen, and carried out by Michael Hanna, PhD, of Mercury Medical Research & Writing.

Additional information

Funding

This paper was not funded.