在一条标记染色体中检测遗传性染色体整合的人疱疹病毒6型（ciHHV-6）

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

作者信息

Campioni Diana, Gentili Valentina, Cavazzini Francesco, Bortolotti Daria, Nacheva Elisabeth P, Cuneo Antonio, Di Luca Dario, Rizzo Roberta

机构信息

Section of Microbiology, University of Ferrara, Ferrara, Italy.

Section of Haematology, University of Ferrara, Ferrara, Italy.

出版信息

Eur J Haematol. 2017 Jun;98(6):635-637. doi: 10.1111/ejh.12872. Epub 2017 Mar 31.

DOI:10.1111/ejh.12872

PMID:28244148

Abstract

OBJECTIVES

Inherited chromosomally integrated human herpesvirus-6 (ciHHV-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 ciHHV-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 ciHHV-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 ciHHV-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 ciHHV-6 in 17p chromosome region and, for the first time, in a marker chromosome.

CONCLUSIONS

This is the first case of inherited ciHHV-6 in a marker chromosome, possibly elucidating the role of this abnormality in the biology of DLBCL.

摘要

目的

遗传性染色体整合型人疱疹病毒6型（ciHHV-6）的特征是HHV-6基因组完整整合到宿主种系基因组中，并以孟德尔遗传方式垂直传播。到目前为止，ciHHV-6与疾病之间唯一的关联似乎是与心绞痛有关。

方法

我们报告一例2014年10月被诊断为弥漫性大B细胞淋巴瘤（DLBCL）的82岁男性病例。为证实对ciHHV-6的怀疑，我们采用聚合酶链反应（PCR）、逆转录聚合酶链反应（RT-PCR）和荧光原位杂交（FISH）技术分析了外周血单个核细胞、骨髓活检组织和胸腔积液来源的间皮细胞。

结果

PCR病毒学常规筛查显示不存在HHV-8和EBV感染，而HHV-6 DNA（即U22、U42和U94 HHV-6基因）的存在，病毒载量约为每细胞1.0个基因组，强烈提示为ciHHV-6。RT-PCR仅显示即刻早期U94呈阳性，转录水平较低（100±15转录本/1μg RNA）。FISH分析报告了一例17号染色体区域遗传性ciHHV-6病例，且首次在一条标记染色体上发现。