Diffuse Leptomeningeal Glioneuronal Tumor Diagnosis and Treatment

Diffuse leptomeningeal glioneuronal tumour (DLGNT) is a rare, provisional entity recognised in the 2016 World Health Organization classification of central nervous system tumours. It is defined by widespread infiltration of the leptomeninges by neoplastic cells exhibiting both glial and neuronal differentiation. Clinical presentation is often insidious, with symptoms of raised intracranial pressure, hydrocephalus and cranial neuropathies. Radiologically, diffuse nodular leptomeningeal enhancement on contrast-enhanced MRI is characteristic, frequently accompanied by small non-enhancing cystic lesions along the neuraxis. Histopathology typically reveals oligodendrocyte-like cellular morphology with co-expression of glial fibrillary acidic protein and synaptophysin, while molecular studies demonstrate activation of the MAPK-ERK pathway—most commonly via KIAA1549:BRAF fusion—and chromosomal alterations such as 1p deletion or 1p/19q codeletion. Accurate diagnosis requires integration of clinical, imaging, histological and molecular data. Therapeutic strategies include CSF diversion for hydrocephalus, targeted biopsy, conventional chemotherapy and emerging MAPK inhibitors. Prognosis remains variable, with some cases following indolent courses and others demonstrating aggressive leptomeningeal dissemination. Continued multidisciplinary research is essential to refine diagnostic biomarkers and optimise treatment algorithms.

Research from Nature Portfolio

No recent Nature Portfolio content available.

Diffuse Leptomeningeal Glioneuronal Tumor Diagnosis and Treatment publication trend

The graph below shows the total number of articles in diffuse leptomeningeal glioneuronal tumor diagnosis and treatment across all publications each year (not limited to Nature Index journals).

Technical terms

Diffuse leptomeningeal glioneuronal tumour (DLGNT): A rare primary central nervous system neoplasm characterised by widespread infiltration of the pia and arachnoid mater by mixed neuronal and glial cells.

Leptomeningeal enhancement: Radiological finding on contrast-enhanced MRI indicating abnormal thickening and contrast uptake of the pia-arachnoid layers along the brain and spinal cord.

KIAA1549:BRAF fusion: A genetic rearrangement that constitutively activates the MAPK-ERK signalling pathway, commonly observed in low-grade glial and glioneuronal tumours.

DNA methylation profiling: An epigenetic technique that assesses genome-wide methylation patterns to classify tumour subtypes and inform diagnostic precision.

1p/19q codeletion: Concurrent loss of chromosomal arms 1p and 19q, often associated with prognostic and diagnostic implications in oligodendroglial and mixed glioneuronal neoplasms.

References

1. Rare Neuronal, Glial and Glioneuronal Tumours in Adults. Cancers (2023).
2. Clinical progression, pathological characteristics, and radiological findings in children with diffuse leptomeningeal glioneuronal tumors: A systematic review. Frontiers in Oncology (2022).
3. Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours. Acta Neuropathologica (2022).