Evaluating pediatric spinal low-grade gliomas: a 30-year retrospective analysis

Carey, Steven S.; Sadighi, Zsila; Wu, Shengjie; Chiang, Jason; Robinson, Giles; Ghazwani, Yahya; Liu, Anthony Pak-Yin; Acharya, Sahaja; Merchant, Thomas E.; Boop, Frederick A.; Gajjar, Amar; Qaddoumi, Ibrahim

doi:10.1007/s11060-019-03319-4

Cited by 11 publications

(2 citation statements)

References 33 publications

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“…5 ). In previous published works [ 4 , 6 , 8 , 23 , 36 , 40 ] where the two groups were not differentiated, the median age for spinal LGG ranged from 6 to 14 years. With the exception of age at the time of diagnosis, spinal PAs and DLGNTs show no clear demographic or clinical differences.…”

Section: Discussionmentioning

confidence: 99%

“…From a series of 32 DLGNT with DNA-methylation profiling, the 1p deletion was observed in 100% of cases and thus was considered an essential diagnostic criteria in the 2021 WHO classification [ 48 ]. However, very little cytogenetic data (only 3 cases reported with 1p19q codeletion) concerning chromosome 1 are available in existing literature (108 reported spinal PAs) (Supplementary Table 1, online resource) [ 4 , 6 , 8 , 23 , 24 , 36 , 40 ]. Moreover, there is no series in the literature comparing radiological features and clinical behaviors of these two histomolecular diagnoses in this spinal location.…”

Section: Introductionmentioning

confidence: 99%

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Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours

et al. 2022

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Pediatric spinal low-grade glioma (LGG) and glioneuronal tumours are rare, accounting for less 2.8–5.2% of pediatric LGG. New tumour types frequently found in spinal location such as diffuse leptomeningeal glioneuronal tumours (DLGNT) have been added to the World Health Organization (WHO) classification of tumours of the central nervous system since 2016, but their distinction from others gliomas and particularly from pilocytic astrocytoma (PA) are poorly defined. Most large studies on this subject were published before the era of the molecular diagnosis and did not address the differential diagnosis between PAs and DLGNTs in this peculiar location. Our study retrospectively examined a cohort of 28 children with LGGs and glioneuronal intramedullary tumours using detailed radiological, clinico-pathological and molecular analysis. 25% of spinal PAs were reclassified as DLGNTs. PA and DLGNT are nearly indistinguishable in histopathology or neuroradiology. 83% of spinal DLGNTs presented first without leptomeningeal contrast enhancement. Unsupervised t-distributed stochastic neighbor embedding (t-SNE) analysis of DNA methylation profiles showed that spinal PAs formed a unique methylation cluster distinct from reference midline and posterior fossa PAs, whereas spinal DLGNTs clustered with reference DLGNT cohort. FGFR1 alterations were found in 36% of spinal tumours and were restricted to PAs. Spinal PAs affected significantly younger patients (median age 2 years old) than DLGNTs (median age 8.2 years old). Progression-free survival was similar among the two groups. In this location, histopathology and radiology are of limited interest, but molecular data (methyloma, 1p and FGFR1 status) represent important tools differentiating these two mitogen-activated protein kinase (MAPK) altered tumour types, PA and DLGNT. Thus, these molecular alterations should systematically be explored in this type of tumour in a spinal location.

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