Detection of inherited chromosomally integrated HHV-6 (ci HHV-6) in a marker chromosome.

Objectives Inherited chromosomally integrated human herpesvirus-6 (ci HHV-6) is characterised by the complete HHV-6 genome integration into the host germ line genome and is vertically transmitted with a Mendelian inheritance. By now, the only relationship between ci HHV-6 and diseases seems to be with angina pectoris. Methods We report a case of an 82-year-old man diagnosed with diffuse large B-cell lymphoma ( DLBCL) on October 2014. To substantiate the suspicion of ci HHV-6, we analysed peripheral blood mononuclear cells, bone marrow biopsy and pleural effusion-derived mesothelial cells with PCR, RT- PCR and FISH. Results Virological routine screening by PCR showed the absence of HHV-8 and EBV infections, while the presence of HHV-6 DNA (ie, U22, U42 and U94 HHV-6 genes), with a viral load of about 1.0 genome per cell, strongly suggests ci HHV-6. The RT- PCR showed the positivity only for the immediate-early U94, at low levels of transcription (100±15 transcripts/1 μg RNA). FISH analysis reported a case of inherited ci HHV-6 in 17p chromosome region and, for the first time, in a marker chromosome. Conclusions This is the first case of inherited ci HHV-6 in a marker chromosome, possibly elucidating the role of this abnormality in the biology of DLBCL. [ABSTRACT FROM AUTHOR]