Table 1

Features of RSPO-rearranged liver tumours

PatientSpecimenSexAge (years)AetiologyTumour size (cm)Nodules (n=)DiagnosisRSPO2 rearrangementOther molecular alterations
#1ResectionFemale45None8.21b-HCA8q23.1 Δ46.4 kb
(500 reads)
ESR1-CCDC170 (E2C8, 306 reads)
#2BiopsyFemale34None61b-HCA8q23.1 Δ46.4 kb
(3172 reads)
MLH1 (V326A)
#3ResectionFemale25None101b-IHCA-HCC transition8q23.1 Δ46.4 kb
(666 reads)
FGFR4 (G388R)
#4BiopsyMale26Chronic HBVNDNDHCC8q23.1 Δ46.4 kb
(124 reads)
PMS2 (R20Q)
#5BiopsyFemale85ND61HCC8q23.1 Δ46.4 kb
(6855 reads)
TERT+CTNNB1 G34Q, ATM (V1268fs*1)
#6ResectionMale46ND6.21HCC8q23.1 Δ46.4 kb
(43 933 reads)
FANCD2 (S10P), FANCI (L382I)
  • ND, no data available; RSPO, roof plate-specific spondin.