Table 3.

Molecular features of intracranial DSRCTs, including methylation profiling calibrated scores as analyzed by the DKFZ sarcoma classifier (molecularneuropathology.org), fusions, pathogenic mutations and copy number alterations. For cases 1–4, the EWSR1‐WT1 gene fusion was detected by the UCSF500 Cancer Panel; for case #5, the EWSR1‐WT1 fusion transcript was detected by RT‐PCR. The symbol “–” is used to indicate when selected information was not available.

Case #	Methylation profile DKFZ Sarcoma Classifier	Fusions	Pathogenic mutations	Copy number alterations
1	Desmoplastic small round cell tumor (calibrated score of 0.99)	EWSR1‐WT1 gene fusion, NM_013986, NM_024426, intron 8–9 of EWSR1 to intron 7–8 of WT1, 334 reads over fusion junction	None	Loss of 8p
2	Desmoplastic small round cell tumor (calibrated score of 0.99)	EWSR1‐WT1 gene fusion, NM_013986, NM_024426, intron 8–9 of EWSR1 to intron 7–8 of WT1, 229 reads over fusion junction	None	None
3	Desmoplastic small round cell tumor (calibrated score of 0.99)	EWSR1‐WT1 gene fusion, NM_013986, NM_024426, intron 8–9 of EWSR1 to intron 7–8 of WT1, 191 reads over fusion junction	TERT promoter hotspot mutation c.‐124C > T NM_198253 796 reads, 28% MAF	Gains of proximal 1p, 1q, 2, 5, 7, proximal 11p, 11q, 15, 18, 19, 20, 21, and distal 22q Losses of distal 1p, 16, and 17
4	Desmoplastic small round cell tumor (calibrated score of 0.99)	EWSR1‐WT1 gene fusion, NM_013986, NM_024426, intron 8–9 of EWSR1 to intron 7–8 of WT1, 389 reads over fusion junction	STAG2 splice site mutation c.3278‐1G > A NM_001042749 480 reads, 19% MAF	Gain of 1q and loss of 20p
5	Desmoplastic small round cell tumor (calibrated score of 0.99)	EWSR1‐WT1 fusion transcript	–	–