Somatic gene mutations
The molecular genetic results of the samples originating from the
different tumor type are presented in Table 2 .
In the right bulbus Rb sample (S1) CTNNB1 and EZH2mutations were identified opposite to the S2 (left bulbus) tumor, whereALK , APC and CDH1 variants were detected.EZH2 aberration emerged in the all tumor samples, but not in the
non-tumor control, therefore, this was considered as a tumor-specific
somatic gene variant. In the chondroblastic osteosarcoma sample (S3) no
other somatic mutations were detected. In contrast, all osteoblastic
osteosarcoma samples (S4-S6) featured the same TP53 pathogenic
variant with high VAF (38.4-69.0%). Additional variants of the genesERBB , HRAS and SMAD4 were identified at the level
of the individual samples.