Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency

Table 1

Clinical data and mutation summary.

Sex	Male
Age at diagnosis (months)	3
Localization	Left supratentorial
Operation^a	Subt. resection + residual
IHC^b	INI1 negative
Therapy^c	EU-RHAB protocol
Recurrence (months)	8 and 20
Survival (months)	23
Number of somatic mutations	7
Somatic mutation rate per Mb	0.145
Transitions/Transversions	2/3
Deletions/Insertions	1/1
Number of postfiltering germline variants^d	205

Initial operation performed. Subt. = Subtotal. Residual = additional
operation had to be done to remove residual tumour.
^bSelected IHC marker from pathology analysis.
^cEU-RHAB includes several chemotherapy drugs including Doxorubicin, Ifosfamide, Carboplatinum, Etoposide, Vincristine, and Cyclophosphamide.
^dThe uncommon and predicted damaging variants.