Figure 5: Chromosomal integration of human herpesvirus-6 in paediatric ACT.

(a) Coverage plot for cases SJACT004 and SJACT005 showing diagnostic tumour (D) and germline (G) samples reveals integration of the full-length HHV6 genome in SJACT004. The HHV6 genome is duplicated in the tumour sample as a consequence of cn-LOH. (b) FISH of metaphase chromosomes from peripheral blood confirmed HHV6 integration at 11p in both cases. The MLL probe (chromosome 11q23) was used as control (left, SJACT004; right, SJACT017). (c) HHV6 MCP (major capsid protein) and U94 were amplified with PCR from SJACT017 (germline and tumour) and parental DNA demonstrating paternal vertical transmission of integrated HHV6. Exon 6 of the TP53 gene was amplified as DNA quality control.