1. Volume 61, Issue 5, Pages 1178-1183 (November 2014)
Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations 
Sílvia Vilarinho, E. Zeynep Erson-Omay, Akdes Serin Harmanci, Raffaella Morotti, Geneive Carrion-Grant, Jacob Baranoski, A.S. Knisely, Udeme Ekong, Sukru Emre, Katsuhito Yasuno, Kaya Bilguvar, Murat Günel 
Journal of Hepatology 
Volume 61, Issue 5, Pages (November 2014)
DOI: /j.jhep
Copyright © 2014 European Association for the Study of the Liver Terms and Conditions

2. Fig. 1
Proband’s germline genetic analysis and liver background histology. Compound heterozygous missense mutations in ABCB11: R1226H and A389P, and their conservation across species (A and B respectively). (C) Trichrome stain of the background liver (10×). (D) Abnormal cytokeratin-7 expression by hepatocytes in peri-central vein location (10×). (E) Normal canalicular BSEP expression in the background hepatic parenchyma (20×).
Journal of Hepatology  , DOI: ( /j.jhep )
Copyright © 2014 European Association for the Study of the Liver Terms and Conditions

3. Fig. 2
Proband’s HCC somatic driver mutations, copy number profile, clonal evolution and histology. (A) CTNNB1 somatic mutation, S33P. (B) NFE2L2 somatic mutation, D27_L30delID. (C) The log ratio of Depth of Coverage of each exon between tumour and blood is shown as gray dots. The black lines represent the segmental copy neutral events. (D) The difference between minor allele frequency in blood and in the tumour shows no regions of loss of heterozygosity. (E) Mutations having a clonality rate ⩾0.8 are identified to be clonal whereas mutations with a clonality rate <0.8 are identified to be subclonal. CTNNB1 has a clonality rate of 0.95 and NFE2L2 has a clonality rate of (F) Temporal relationship of CTNNB1 and NFE2L2 mutations. (G) H&E stain shows interface between well-differentiated and poorly differentiated components of HCC (10×). (H) Beta catenin immunostain in poorly differentiated and better differentiated areas of the HCC. The poorly differentiated portion shows strong immunostaining in both nucleus and cytoplasm. The better differentiated portion (bottom left) shows only strong nuclear positivity (20×).
Journal of Hepatology  , DOI: ( /j.jhep )
Copyright © 2014 European Association for the Study of the Liver Terms and Conditions