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. 2023 Dec 7;13:21623. doi: 10.1038/s41598-023-48774-2

Table 1.

Patient and tumor characteristics.

Patient No 1 No 2 No 3 No 4 No 5 No 6
Primary tu/ relapse Primary Primary Primary Primary Relapse Primary
Age at dg 30 months 5 months 30 months 21 months 29 months 13 years
Localization of tumor Brain–supratentorial, M0 Brain–supratentorial, M0 Brain–infratentorial, M0 Brain–infratentorial, M0 Metastatic relapse spinal cord Right ovary
Sex Female Male Male Female Male Female
Histology AT/RT AT/RT AT/RT AT/RT AT/RT Rhabdoid tumor
Subtype SHH SHH SHH Not known Not known Not applicable
Somatic alteration SMARCB1 c.157C>T/p.R53* + LOH SMARCB1 deletion SMARCB1 c.618G>A/p.W206* + SMARCB1 loss SMARCB1 deletion SMARCB1 loss SMARCA4 loss
Germline alteration No No No No SMARCB1 c.1005del/p.Y335* SMARCA4 c.260del/p.D87fs