High specificity of HPV cell-free DNA tests in persons with HIV for the detection of HPV-related cancer Journal Article


Authors: Ellsworth, G.; Shen, R.; Marcelin, K. A.; Majumdar, R.; Bazil, M.; Moore, G.; Nelson, M.; Alland, I.; Sepulveda, G.; Wilkin, T.; Higginson, D. S.
Article Title: High specificity of HPV cell-free DNA tests in persons with HIV for the detection of HPV-related cancer
Abstract: Introduction:Persons with HIV (PWH) experience high rates of human papillomavirus (HPV)-associated cancers compared with the general population. Plasma HPV cell-free DNA (cfDNA) tests are sensitive in patients with known HPV-associated cancers. It is not known whether these tests can screen for invasive cancers in populations with high burdens of nonmalignant HPV disease such as PWH. It was not known whether HPV infection and/or noninvasive anal high-grade squamous intraepithelial lesions (HSIL) alone in this population would result in detectable HPV cfDNA, which would result in a high number of false positives if HPV cfDNA is used to screen for invasive cancers.Methods:We conducted a prospective study of PWH in 2 cohorts: 20 without anal HSIL and 20 with anal HSIL. We tested anal and vaginal swabs for HPV infection, and HPV genotyped the biopsies of anal HSIL. Finally, we performed HPV cfDNA droplet digital polymerase chain reaction to test for HPV16/18/33 from plasma samples.Results:In the combined cohorts, the median age was 56 years, 12.5% were cisgender women, and none had detectable HIV. In total, 84.6% had prevalent anovaginal HPV infection, including 10 participants with HPV16, 13 with HPV18, and 2 with HPV33 infections. Five and 2 participants had HPV16 and HPV33 detected in anal HSIL, respectively. Despite the high prevalence of HPV infection and anal HSIL, no participant had HPV16/18/33 detectable cfDNA by droplet digital polymerase chain reaction.Conclusions:These results provide a strong rationale for investigating the use of HPV cfDNA in a screening setting for suspected HPV-related invasive cancers in PWH. © Copyright 2023 Wolters Kluwer Health, Inc.
Keywords: middle aged; genetics; human immunodeficiency virus infection; prospective study; prospective studies; prevalence; cancer screening; hiv infections; wart virus; papillomavirus infections; complication; papillomavirus infection; anal cancer; anus neoplasms; anus tumor; human papillomavirus type 16; human papillomavirus 16; human papillomavirus type 18; human papillomavirus 18; hpv; papillomaviridae; squamous intraepithelial lesions; humans; human; female; cell-free dna; human papillomavirus type 33; squamous cell lesion; human papillomavirus viruses; human papillomavirus 33
Journal Title: JAIDS: Journal of Acquired Immune Deficiency Syndromes
Volume: 94
Issue: 1
ISSN: 1525-4135
Publisher: Lippincott Williams & Wilkins  
Date Published: 2023-09-01
Start Page: 73
End Page: 81
Language: English
DOI: 10.1097/qai.0000000000003231
PUBMED: 37276242
PROVIDER: scopus
PMCID: PMC10500630
DOI/URL:
Notes: Article -- MSK Cancer Center Support Grant (P30 CA008748) acknowledged in PubMed and PDF -- MSK corresponding author is Daniel Higginson --Source: Scopus
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MSK Authors
  1. Grace Mierzwa Moore
    5 Moore
  2. Maximilian J. Bazil
    2 Bazil
  3. Roger Shen
    4 Shen