Germline gene mutations
In all samples of the patient the same c.2548C>T;
p.(Gln850Ter) mutation of the RB1 gene were detected in a
heterozygotic form (variant allele frequence (VAF): 50±10%). In
addition, the c.3029C>T;
p.(Thr1010Ile)/c.2975C>T; p.(Thr992Ile) variant of theMET gene was identified throughout the samples (VAF range: 27 to
50%). Targeted Sanger sequencing of the parental DNA isolated from the
peripheral blood did not detect the mutations in question.