Table 4.

Tumor Genetics by UCSF500 Next-Generation Sequencing Panel

	Germline: Number (%), N=32
	Tumor: Number (%), N=30*
Germline or Mosaic Alterations in Normal Sample:
Germline RB1 mutation or deletion	12 (38)
Post-zygotic mosaicism for RB1 mutation	2 (6)
Somatic Alterations in Tumor:
Known Genetic Alternations in Retinoblastoma
RB1 mutation or deletion	28 (93)
MYCN amplification	4 (13)
BCOR mutation (truncating)	4 (13)
MDM4 amplification	1 (3)
Novel Likely Pathogenic Alternations
MGA mutation (truncating)	2 (7)
ARID1A mutation (truncating)	2 (7)
FAT1 mutation (splice site)	1 (3)
ATRX mutation (missense)	1 (3)
RAF1 amplification	1 (3)
Frequent Chromosomal Copy Number Variations
Chromosome 13q loss or loss of heterozygosity	20 (67)
Chromosome 1q gain	19 (63)
Chromosome 6p gain	17 (57)
Chromosome 16q loss	17 (57)
Chromosome 2p gain	13 (43)

^*Due to limited or no viable eye tumor in enucleation specimens in patients #17, 18 and 28, all of whom had pre-enucleation chemotherapy, Next-Generation Sequencing of the eye tumor was not possible. Patient #16 had genetic testing of a cerebellar metastatic lesion.