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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