Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus

Authors

  • Blanche P. Alter,

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
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  • Neelam Giri,

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
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  • Sharon A. Savage,

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
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  • Wim G.V. Quint,

    1. DDL Diagnostic Laboratory, Rijswijk, The Netherlands
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  • Maurits N.C. de Koning,

    1. DDL Diagnostic Laboratory, Rijswijk, The Netherlands
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  • Mark Schiffman

    Corresponding author
    • Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
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Correspondence to: Blanche Alter, MD, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South 7020, Rockville, MD 20852, USA, Tel.: +301–402-9731, Fax: +301–496-1854, E-mail alterb@mail.nih.gov

Abstract

Patients with Fanconi anemia (FA) and dyskeratosis congenita (DC) are at high risk of head and neck squamous cell carcinomas (HNSCC) and anogenital squamous cell carcinomas (SCC). In the general population, these sites (particularly oropharyngeal SCC) may be associated with infection with human papillomavirus (HPV). In FA and DC, however, the majority of HNSCC occur in the oral cavity. We investigated the HPV status of HNSCC and vulvar SCC from nine patients with FA and four with DC using a very sensitive PCR assay, and found HPV16 DNA in only a single vulvar tumor from one patient with FA, and in none of the HNSCC. These results suggest that HPV may not be the cause of SCC in patients with FA or DC, and that vaccination may not reduce the incidence of HNSCC in these patients.

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