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Table 1 Molecular profiling of DLGNT cases from the PRISM clinical trial

From: Diffuse leptomeningeal glioneuronal tumour (DLGNT) in children: the emerging role of genomic analysis

  Case 1 Case 2
Tumour purity % 71 79
Ploidy Diploid Diploid
Tumour mutational burden (mutations/Mb) 0.68 (low) 0.98 (low)
Mutational signatures NIL NIL
Somatic mutations BCOR:c.1555G > T (p.Glu519Ter) RET:c.2755G > C (p.Ala919Pro)
Fusions KIAA1549-BRAF KIAA1549-BRAF
Reportable copy number alterations 1p/19q loss, 1q gain 1p loss, 1q gain, chr8 gain
Germline mutations NIL NIL
RNA Expression Degraded sample Insufficient sample
Methylation Match: methylation class diffuse leptomeningeal glioneuronal tumor (0.97) No match: methylation class family Glioblastoma, IDH wildtype (0.78)
  1. Molecular alterations from WGS, RNAseq and methylome data as curated and discussed at a Multidisciplinary Tumour Board