Table 1

Molecular analysis was performed on DNA from formalin-fixed paraffin-embedded tissue

The targeted panel Myriapod NGS-LT 56G Onco Panel (Diatech Pharmacogenetics) was run on Ion Torrent Ion S5 platform (Thermo Fisher Scientific). Data were analysed by Myriapod NGS Data Analysis Software (Diatech Pharmacogenetics). The main hotspot regions in the below-mentioned genes were analysed.
ABL1CSF1RFBXW7GNASKITNPM1SKT11
AKT1CTNNB1FGFR1HNF1AKRASNRASSMAD4
ALKDOR2FGFR2HRASMAP2K1PDGFRASMARCB1
APCDNMT3AFGFR3IDH1METPIK3CASMO
ATMEGFRFLT3IDH2MLH1PTENSRC
BRAFERBB2FOXL2JAK2MLPPTPN11TP53
CDH1ERBB4GNA11JAK3MSH6RB1TSC1
CDKN2AEZH2GNAQKDRNOTCHRETVHL
Patient 1 Ref.: I/23022/2017/LS2
PASS VARIANTS
GeneVariant classificationcDNA changeProtein changeAllele frequencyClinVar
TP53missensec.524G>Ap.R175H63.70%Pathogenic/likely pathogenic
PTENframeshiftc.1048delAp.T350fs5.30%Not reported
LOW-QUALITY VARIANTS (confirmation by another tecnique is needed)
GeneVariant classificationcDNA changeProtein changeAllele frequencyClinVarWARNING
RB1nonsensec.763C>Tp.R255*38.50%PathogenicStrand bias
Patient 2 Ref: I/3628/2018/LS3
PASS VARIANTS
GeneVariant classificationcDNA changeProtein changeAllele frequencyClinVar
TP53missensec.839G>Cp.R280T33.40%Conflicting interpretations of pathogenicity
  • ‘ClinVar’ (https://www.ncbi.nlm.nih.gov/clinvar) refers to the clinical significance (described or predicted) of the variant (eg, pathogenic or likely pathogenic). ‘Conflicting interpretations of pathogenicity’ indicates controversial data in the literature.

  • *This sequence change creates a premature translational stop signal in the RB1 gene