Table 2.

Summary of relevant findings of multiregional tumor genetic analysis for patients 1 to 5

PatientRegion sampledMutationsCopy-number alterationFunctional effect
Patient 1 (temsirolimus × 27 months)Region 1 primary tumorTSC1 frameshift (c.932delC)Heterozygous deletion of TSC1Functional loss of TSC1
Region 2 primary tumorTSC1 frameshift (c.932delC)Heterozygous deletion of TSC1Functional loss of TSC1
Region 3 primary tumorTSC1 nonsense (Q527*)Heterozygous deletion of TSC1Functional loss of TSC1
Patient 2 (temsirolimus × 34 months)Region 1 primary tumorTSC1 frameshift (c.1738delAT)Heterozygous deletion of TSC1Functional loss of TSC1
Region 2 primary tumorTSC1 frameshift (c.1738delAT)Heterozygous deletion of TSC1Functional loss of TSC1
Region 3 primary tumorTSC1 frameshift (c.1738delAT)Heterozygous deletion of TSC1Functional loss of TSC1
MetastasisTSC1 frameshift (c.1738delAT)Heterozygous deletion of TSC1Functional loss of TSC1
Patient 3 (everolimus × 20 months)Region 1 primary tumormTOR missense (Q2223K)Functional gain of mTOR
Region 2 primary tumormTOR missense (Q2223K)Functional gain of mTOR
Region 3 primary tumorTSC1 nonsense (Q781*)
Region 4 primary tumorTSC1 nonsense (Q781*)Heterozygous deletion of TSC1Functional loss of TSC1
Patient 4 (temsirolimus × 28 months)Primary tumor
Metastasis
Patient 5 (temsirolimus >45 months)Primary tumor