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. Author manuscript; available in PMC: 2022 Oct 1.
Published in final edited form as: Cancer Discov. 2021 Apr 23;11(10):2524–2543. doi: 10.1158/2159-8290.CD-20-1809

Figure 2. Pre-malignant clonal expansions with 11p15 alteration in hepatoblastoma patients.

Figure 2.

a Identification of a copy-neutral LOH (cn-LOH) at 11p15 locus in the non-tumor liver of patient #3559. B Allele frequencies (BAF) of heterozygous single-nucleotide polymorphisms (SNPs) are represented along chromosome 11. SNPs with a BAF greater (resp. lower) than 0.5 in the tumor are colored in red (resp. blue). In the cn-LOH region, red (resp. blue) SNPs correspond to those for which the B allele was retained (resp. lost). The same BAF imbalance is identified in the non-tumor sample, with the same boundaries, demonstrating the presence of the cn-LOH. The amplitude of BAF changes indicate that the cn-LOH is present in 30% of cells in the non-tumor sample. b Pre-malignant expansions with cn-LOH at 11p15 locus were identified in 6 hepatoblastoma patients. The proportion of non-tumor cells harboring the alteration is indicated below. Copy-neutral LOH became clonal in matched hepatoblastoma that had acquired in addition activating CTNNB1 mutations. c Expression levels of IGF2 and the β-catenin targets GLUL, LGR5, AXIN2 (2-ΔΔCt ) in tumor and non-tumor samples from patients with and without 11p15.5 cn-LOH premalignant expansions. d Representative areas of FFPE slides from 2 HB patients: patient #3559 with mosaic 11p15.5 cn-LOH and control patient #4217. Four types of staining were performed: hematoxylin and eosin staining (H&E), IGF2 RNAscope in situ hybridization, and β-catenin and Glutamine synthetase immunostainings.