Table 2.
Summary of the somatic mutations detected in H/FPC and sporadic cases by sequencing analysis.
| Case | Somatic Mutations Detected by Sequencing | KRAS Status by BEAMing |
|---|---|---|
| H/FPC | KIT: p.(Glu640Lys) and TP53: p.(His214Tyr) and ERBB2: p.(Asn850Ser) | md |
| KRAS: p.(Gly12Arg) and TP53: p.(His193Arg) | md | |
| KRAS: p.(Gly12Asp) | md | |
| KRAS:p.(Gly12Asp) and TP53:p.(Tyr220Cys) and ERBB2:p.(Asn850Ser) | md | |
| AKT: p.(Lys39Asn) and TP53: p.(Pro250His) and ERBB2: p.(Arg849Gln) | nmd | |
| ERBB2: p.(Ala710Val) | nmd | |
| ERBB2: p.(Cys560Phe) and AKT: p.(Thr34Asn) and TP53: p.(Pro250His) | nmd | |
| PDGFRA: p.(Ala840Thr) and AKT: p.(Thr34Asn) and TP53:p.(Pro250His) | nmd | |
| TP53 p.(Ser215Ile) and PDGFRA p.(Ala840Val) and KIT p.(Tyr545Phe) | nmd | |
| TP53: p.(Glu171Gly) and AKT: p.(Thr34Asn) | nmd | |
| TP53: p.(His214Tyr) | nmd | |
| TP53: p.(His214Tyr) | nmd | |
| TP53:p.(His214Tyr) and ERBB2:p.(Tyr735Cys) | nmd | |
| TP53:p.(His214Tyr) and KIT:p.(Glu640Lys) and ERBB2:p.(Tyr735Cys) and ERBB2:p.(Asn850Ser) | nmd | |
| NEG | nmd | |
| NEG | nmd | |
| NEG | nmd | |
| NEG | nmd | |
| ERBB2:p.(Leu715Arg) and AKT:p.(Pro24Ser) | not tested | |
| NEG | not tested | |
| NEG | not tested | |
| Sporadic | KRAS: p.(Gly12Asp) and TP53: p.(Gly266Val) | md |
| KRAS p.(Gly12Asp) and TP53 p.(Gly266Val) | md | |
| KRAS: p.(Gly12Asp) and TP53: p.(Gly244Ser) and AKT: p.(Arg23Trp) and ERBB2: p.(Gly732Asp) | md | |
| TP53: p.(Pro177Arg) and ERBB2: p.(Pro1130His) | md | |
| PDGFRA p.(Ala820Val) and TP53 p.(Pro223Ser) | nmd | |
| PIK3CA: p.(Ala995Asp) and KIT: p.(Pro832Ser) and BRAF:p.(His585Tyr) and ERBB2: p.(Pro761Thr) | nmd | |
| NEG | nmd |
NEG: negative for somatic mutations by sequencing analysis. md: KRAS mutation detected by BEAMing. nmd: no KRAS mutation detected by BEAMing.