Patient | Specimen | Sex | Age (years) | Aetiology | Tumour size (cm) | Nodules (n=) | Diagnosis | RSPO2 rearrangement | Other molecular alterations |
#1 | Resection | Female | 45 | None | 8.2 | 1 | b-HCA | 8q23.1 Δ46.4 kb (500 reads) | ESR1-CCDC170 (E2C8, 306 reads) |
#2 | Biopsy | Female | 34 | None | 6 | 1 | b-HCA | 8q23.1 Δ46.4 kb (3172 reads) | MLH1 (V326A) |
#3 | Resection | Female | 25 | None | 10 | 1 | b-IHCA-HCC transition | 8q23.1 Δ46.4 kb (666 reads) | FGFR4 (G388R) |
#4 | Biopsy | Male | 26 | Chronic HBV | ND | ND | HCC | 8q23.1 Δ46.4 kb (124 reads) | PMS2 (R20Q) |
#5 | Biopsy | Female | 85 | ND | 6 | 1 | HCC | 8q23.1 Δ46.4 kb (6855 reads) | TERT+CTNNB1 G34Q, ATM (V1268fs*1) |
#6 | Resection | Male | 46 | ND | 6.2 | 1 | HCC | 8q23.1 Δ46.4 kb (43 933 reads) | FANCD2 (S10P), FANCI (L382I) |
ND, no data available; RSPO, roof plate-specific spondin.