PMC5142752_01
Histology of metastatic basal cell Carcinoma sample:medium (a) and high (b) magnification views of liver biopsy and CT scans demonstrating near complete response to PD-1 blockade (e, f). The metastatic tumour extensively infiltrates the liver; several tumour cells have large pleomorphic nuclei (a). Aggregates of the basaloid tumour cells are also present (b). (Hematoxylin and eosin: ; x10, a; x40, b). Baseline CT of liver lesions before treatment (c, e). Near complete resolution of the liver lesion after nivolumab for four months (d, f). The white arrows demonstrate metastatic basal cell carcinoma in the liver prior to (c, e) and following (d, f) 4 months of treatment with nivolumab.
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Repeat NGS, shown in Table 1, was performed on a liver biopsy specimen (Figure 1a,b). Four months after starting nivolumab, CT scans demonstrated near complete resolution in the hepatic lesions (Figure 1c-f), and his mood and appetite improved.
Genome-wide sequencing of cfDNA using non-invasive prenatal testing (NIPT) technology. Sequencing reads were assigned to 50 kilobase (kb) non-overlapping segments of the human reference genome. The normalised read counts from each segment of the genome are shown with alternating colours delineating chromosomes and the number of each chromosome shown. A LOESS regression was performed for each chromosome (orange lines) with 95% confidence intervals shown (white lines). Deviations above and below the median value (dashed black line) indicate amplifications and deletions, respectively. (a) Genome-wide profiles from a patient with Erdheim-Chester disease that was sequenced as a comparator. The lack of deviations of genomic segments above or below the median representation is shown to depict a sample without copy-number alterations. (b) Genome-wide profile of this patient with basal cell carcinoma. In addition to amplification of 9p24.3-9p22.2, numerous copy-number alterations are shown throughout the genome as indicated by the deviation of these regions away from the median value.
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fig2
CfDNA was also isolated from plasma and analysed for genome-wide CNAs using Sequenom Laboratories technology originally developed for the genome-wide detection of sub-chromosomal CNAs in noninvasive prenatal testing (Figure 2).