Table 2.
Genomic alterations in rare primary liver cancers.
| Study | Classification | Type of analysis | N patients Subtypes |
Fibrosis (F3-F4) | Somatic genetic alterations |
|---|---|---|---|---|---|
| Hepatocholangiocarcinoma | |||||
| Cazals-Hatem et al. 2004155 | Lisa et Allen 1949 | Target sanger sequencing | 14 mixed, 1 fibrolamellar HCC 3 collision tumours | 3/15 | TP53 |
| Fujimoto et al. 201524 | WHO 2010 |
WGS and RNA-seq | 30 Liver cancer with biliary phenotype 7cHCC-CCA +2CLC |
4/9 | TERT promoter 53%, PBMR1 20%, ARID2 27% |
| Sasaki et al. 201727 | WHO 2010 |
Target sanger sequencing + IHC | 53 mixed tumours 4 CT, 4 TS, 20 INT, 25 CLC |
38/53 | cHCC-CCA: TERT 50%, TP53 25%, KRAS 50% ARID1A 0% Intermediate: TERT 42%, TP53 58%, , KRAS 5%, ARID1A 11% |
| Moeini et al. 201728 | WHO 2010 |
Microarray, DNA copy number, WES |
18 mixed tumours 6 CLC/8SC/4CT |
10/18 | CLC: TP53 and IDH1 cHCC-CCA: TP53, TERT promoter, BRAF, FGFR2-BICC1 fusion |
| Liu et al. 201825 |
WHO 2010 |
WGS, WES and RNA-seq | 4 cHCC-CCA not specified | n.a. | TP53, CTNNB1 and ARID1A |
| Wang et al. 201831 |
WHO 2010 |
WES | 7 cHCC-CCA | n.a. | TP53 and ARID2 |
| Xue et al. 201929 |
Lisa et Allen 1949 | WES, WGS, RNA-seq, | 121 tumours: 6 separate type, 56 combined type, 59 mixed type. | 54/115 | TP53 49% , TERT promoter 23%, AXIN 10%, KMT2D 9%, KEAP1 8%, ARID1A 8%, RB1 8%, CTNNB1 6%, IDH1 5% |
| Joseph et al. 201926 | Consensus 2019 |
Target next-generation sequencing | 20CT | 15/18 | TP53 (80%), TERT (70%), ARID1A (15%), CTNNB1 (10%), AXIN1 (10%), KRAS (5%) |
| Sasaki et al. 201930 | Consensus 2019 |
Target sequencing + IHC | 9 CT | 6/9 | TP53 (66%), TERT promoter (33%), KRAS (22%) |
| Fibrolamellar carcinoma | |||||
| Honeyman et al. 201479 | n.a. | RNA-seq | 15 FLC | 0 | DNAJB1-PRKACA fusion (100%) |
| Cornella et al. 201580 | n.a. | FISH WES |
78 FLC | 0 |
DNAJB1-PRKACA fusion (79%) BRCA2 (4.2%) |
| Graham et al. 201581 | n.a. | RT-PCR FISH |
26 FLC | 0 | DNAJB1-PRKACA fusion (100%) |
| Graham et al. 201886 | n.a. | FISH NGS |
3 FLC without DNAJB1-PRKACA fusion | 0 | PRKAR1A (100%) in patients with Carney syndrome and FLC |
| Graham et al. 2018156 | n.a. | FISH | 104 typical FLC, 12 probable FLC and 9 unlikely FLC | 0 | 99% DNAJB1-PRKACA fusion in typical, 75% in probable and 0% in unlikely FLC |
| Hepatic haemangioendothelioma | |||||
| Tanas et al. 2011113 |
n.a. | RNA-seq FISH |
47 haemangioendothelioma (hepatic and non-hepatic) | 0 | 89% WWTR1-CAMTA1 fusion |
| Errani et al. 2011115 | n.a. | FISH | 17 haemangioendothelioma (hepatic and non-hepatic) | 0 | 100% WWTR1-CAMTA1 fusion |
| Antonescu et al. 2013116 | n.a. | FISH | 10 haemangioendothelioma without WWTR1-CAMTA1 | 0 | 100% YAP1-TFE3 fusion (in tumours without WWTR1-CAMTA1 fusion) |
| Flucke et al. 2014157 | n.a. | FISH RT-PCR |
35 haemangioendothelioma (hepatic and non-hepatic) | 0 | 94% WWTR1-CAMTA1 and 6% YAP1-TFE3 fusion |
| Patel et al. 2015117 | n.a. | RT-PCR | 18 haemangioendothelioma (hepatic and non-hepatic) | 0 | 78% WWTR1-CAMTA1 and 6% YAP1-TFE3 fusion |
Molecular alterations of HAS were not represented as very few data are currently available in the literature. CLC, cholangiolocarcinoma; CT, classical type; IHC, immunohistochemistry; INT, intermediate subtype; SC, stem cell subtype; TS, typical subtype; WES, whole-exome sequencing; WGS, whole-genome sequencing.