Neuro-Oncology
Neuro-oncology covers primary central nervous system tumours, central nervous system metastases and the neurological complications of cancer. Its diagnostic framework is explicitly integrated, combining histology with molecular findings.
Disease categories
Major disease categories
- Gliomas
- Meningiomas
- CNS lymphoma
- Brain metastases
- Leptomeningeal disease
- Paediatric CNS tumours
Molecular
Molecular considerations
IDH status, 1p/19q co-deletion, MGMT promoter methylation and DNA methylation class are central to diagnosis and discussion in glioma.
Markers commonly discussed in neuro-oncology
- IDH1 / IDH2
- 1p/19q co-deletion
- MGMT promoter methylation
- H3 K27M
- BRAF V600E
- Methylation class
Not exhaustive, and not every marker is assessed in every patient. Which of these is relevant depends on the individual case and should be discussed with the treating team.
Testing
Genomic testing considerations
Integrated diagnosis is standard. Methylation profiling is increasingly discussed for diagnostically difficult cases.
Germline
Germline considerations
Considered where a syndromic pattern is present.
Molecular monitoring
ctDNA and liquid biopsy considerations
Cerebrospinal fluid analysis is the more promising route in central nervous system disease; plasma ctDNA is limited by the blood–brain barrier.
Single-cell & computation
Single-cell and algorithmic approaches
Single-cell sequencing in neuro-oncology is used to characterise the cellular hierarchy within a tumour, including the stem-like populations implicated in recurrence, and to describe the immune compartment that bulk profiling represents poorly. Single-cell DNA analysis addresses regional heterogeneity, which is pronounced in glioma. Algorithm work is dominated by DNA methylation classification, which has become one of the more reliable diagnostic tools in difficult central nervous system cases, alongside cerebrospinal fluid analysis methods.
In practice
What a review of this disease typically surfaces
Integrated diagnosis is the recurring gap — histology recorded without the molecular markers that the classification now requires. For brain metastases, the primary tumour's molecular profile is frequently unknown despite bearing directly on the options. Where the clinical course has been unexpected, methylation profiling has usually not been considered even where the diagnosis is genuinely in doubt.
Patterns observed across precision oncology case reviews. Every case differs; these are the questions worth checking, not conclusions about any individual patient.
Decisions
Treatment decision questions
Questions worth raising with a treating team when a decision is being made:
- Is the diagnosis integrated, combining histology and molecular findings?
- Has methylation profiling been considered for a difficult case?
- For brain metastases, is the primary tumour’s molecular profile known?
Resistance
Resistance and recurrence questions
- Has pseudoprogression been distinguished from true progression?
Trials
Clinical trial considerations
Molecular class is frequently determinative for eligibility.
When a precision oncology review may help
A review is most useful where the standard pathway has been exhausted or where the picture is more complicated than a protocol accounts for — rare presentations, treatment resistance, complex or apparently contradictory molecular findings, or a decision between several defensible options.
The output is a structured analysis and a set of questions for the treating team. It is not treatment, and it does not replace the treating oncologist.