Clonal analyses of the autopsy samples from the maxillary sinus cancer patient.

<p>A) DAPI-based DNA content analysis detected a 3.8N clonal population in brain right frontal pole brain left cerebellar and lung left lower lobe samples, while a 2.4N clonal population was seen in the jejunum sample. The diploid and aneuploid populations were sorted for subsequent aCGH studies. <b>B</b>) Zoomed in chromosome view showing the <i>PKP4</i> gene locus in the above four samples. <b>C</b>) Zoomed in chromosome view showing the <i>pre-miR-651 (labeled miR-651)</i> gene locus status in the above four samples.</p

The aCGH results were validated by qPCR using the flow-sorted DNA.

<p>Primers were designed for <i>PKP4</i> and <i>pre-miR-651</i> genomic sequences. Primers were also designed using sequences outside the deleted regions for <i>PKP4</i> and <i>pre-miR-651</i> and were called <i>PKP4-</i>control and <i>pre-miR-651-</i>control respectively. Actin was used as the universal control. qPCR was performed and fold change was calculated and plotted. The left lower lung tumor sample validated as expected for <i>pre-miR-651</i> and <i>PKP4</i> deletion and the brain right frontal lobe sample did not show any of these deletions validating the aCGH results. The jejunum sample did not validate for these results.</p

Circos plot for WGS results for ONB.

<p>This figure depicts the genomic location in the outer ring and chromosomal copy number in the inner ring. The SNVs and indels are marked on the outer ring in their respective genomic locations. In the inner ring, copy gains are shown in red, while copy losses are shown in green. No interchromosomal translocations were observed by assessing counts of anomalous read pairs between specific regions of the genomes, noting that the use of shorter-paired end sequencing may limit our ability to detect these events with this analysis.</p

Single nucleotide variations in the seven genes chosen for validation by Sanger sequencing.

<p>Key: *Low confidence, Mutated Codon column-somatic mutation depicted in bold face.</p

Validation of mutations in previously collected archival FFPE samples from the ONB patient.

<p>Key: Validated mutations compared to reference codon depicted in bold italics.</p