Double helix intertwined with a virus symbolizing genetics, viral infections, and cancer research.

Fanconi Anemia and Cancer: Unraveling the Viral Connection

Jordan Keane in Health & Wellness August 2025 • 5 min read.

"Could common viruses play a role in the increased cancer risk for individuals with Fanconi Anemia? A new study investigates."

Fanconi anemia (FA) is a rare genetic disorder known for causing bone marrow failure, birth defects, and a significantly increased risk of certain cancers. Individuals with FA are particularly susceptible to squamous cell carcinomas (SCC) of the head, neck, and anogenital regions. This heightened cancer risk, far exceeding that of the general population, has prompted researchers to investigate potential underlying causes, including viral infections.

One area of interest is the potential role of human polyomaviruses (HPyVs). These common viruses, like human papillomavirus (HPV), infect most people, but typically do not cause disease in healthy individuals. However, in those with weakened immune systems or genetic predispositions, such as individuals with FA, these viruses might contribute to cancer development.

This article delves into a recent study that explored the connection between human polyomaviruses and FA-related head and neck squamous cell carcinoma (HNSCC). By examining tumor samples for the presence of these viruses, the research aimed to determine whether these infections play a causal role in the development of cancer in individuals with Fanconi anemia.

Do Common Viruses Trigger Cancer in Fanconi Anemia Patients?

Double helix intertwined with a virus symbolizing genetics, viral infections, and cancer research.

The study focused on analyzing tumor samples from individuals with FA-related HNSCC for the presence of human polyomaviruses. Researchers used a specialized immunohistochemistry test, called P-PIT, designed to detect T antigens, which are proteins produced by all known human polyomaviruses. This broad-spectrum approach allowed them to screen for a range of viral infections that might be contributing to cancer development.

While the study did find some evidence of viral presence in a small percentage of the FA-related HNSCC samples, the overall detection rate was low. Specifically, only 17% of the samples showed weak reactivity to the P-PIT test. This suggests that, based on the criteria used, human polyomaviruses are unlikely to be a primary cause of the squamous cell carcinomas analyzed in this study.

Although the study's findings suggest a limited role for human polyomaviruses in FA-related HNSCC, it's important to consider other factors and interpretations:

Hit-and-Run Mechanism: Some researchers have proposed that viruses might initiate cancer development through a "hit-and-run" mechanism. In this scenario, the virus triggers genetic damage or cellular changes that eventually lead to cancer, even if the virus itself is no longer present in the tumor cells.
Technical Considerations: Variations in tissue preservation and processing could affect the detection of viral antigens. Serological studies, which measure antibody levels against specific viruses, might provide additional insights.
MCV detection: The MCV genome copies detected with qPCR and the immunostaining pattern with P-PIT and MCV specific CM2B4 suggest that based on conventional criteria, neither MCV nor other known human polyomaviruses are causal pathogens for FA-related SCCs.

It's also important to note that the study had some limitations. The number of patient samples was relatively small, and the samples were collected across multiple institutions over a long period. This variability could have influenced the results. Further research with larger, more uniform sample sets is needed to draw more definitive conclusions.

The Ongoing Quest to Understand Cancer in Fanconi Anemia

While this study suggests that human polyomaviruses may not be a primary driver of FA-related HNSCC, it's crucial to continue exploring other potential causes. Individuals with FA have impaired immune function, making them more vulnerable to viral infections and other environmental factors.

Future research should focus on a multi-faceted approach, considering genetic predispositions, immune system dysfunction, viral infections, and other environmental exposures. By gaining a deeper understanding of these complex interactions, we can develop more effective strategies for cancer prevention and treatment in individuals with Fanconi anemia.

Studies on the possibility that viruses might initiate cancer development through a "hit-and-run" mechanism is required. Technical reasons including variations in preservation/processing of tissues might also explain observations. Serological studies might reveal a distinct pattern or level of antibody reactivity for certain polyomaviruses in FASCC patients.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1371/journal.pone.0209235, Alternate LINK

Title: Limited Detection Of Human Polyomaviruses In Fanconi Anemia Related Squamous Cell Carcinoma

Subject: Multidisciplinary

Journal: PLOS ONE

Publisher: Public Library of Science (PLoS)

Authors: Tuna Toptan, Marion G. Brusadelli, Brian Turpin, David P. Witte, Jordi Surrallés, Eunike Velleuer, Martin Schramm, Ralf Dietrich, Ruud H. Brakenhoff, Patrick S. Moore, Yuan Chang, Susanne I. Wells

Published: 2018-12-27

Everything You Need To Know

What is Fanconi Anemia (FA), and why are individuals with this condition at a higher risk of developing cancer?

Fanconi Anemia (FA) is a rare genetic disorder characterized by bone marrow failure, birth defects, and a significantly increased risk of certain cancers, particularly squamous cell carcinomas (SCC) of the head, neck, and anogenital regions. This heightened cancer risk is substantially higher than that of the general population, prompting investigations into underlying causes such as viral infections and genetic predispositions.

What are human polyomaviruses (HPyVs), and what role might they play in cancer development, particularly in individuals with Fanconi Anemia?

Human polyomaviruses (HPyVs) are common viruses that infect most people, often without causing disease in healthy individuals. However, in those with weakened immune systems or genetic predispositions like Fanconi Anemia (FA), these viruses could potentially contribute to cancer development. The study explored whether these viruses might be a cause of head and neck squamous cell carcinoma (HNSCC) in individuals with Fanconi Anemia, although the study found limited evidence to support this, there may be other explanations for the link.

How was the presence of human polyomaviruses investigated in tumor samples from individuals with Fanconi Anemia-related head and neck squamous cell carcinoma (HNSCC)?

Researchers used a specialized immunohistochemistry test called P-PIT, designed to detect T antigens. These T antigens are proteins produced by all known human polyomaviruses. This broad-spectrum approach allowed them to screen for a range of viral infections that might be contributing to cancer development. The detection rate was low (17%) which suggests the virus is unlikely to be a primary cause of the squamous cell carcinomas.

What is the 'hit-and-run' mechanism in the context of viral infections and cancer, and how might it relate to the findings regarding human polyomaviruses in Fanconi Anemia-related cancers?

The 'hit-and-run' mechanism suggests that a virus might initiate cancer development by triggering genetic damage or cellular changes, even if the virus itself is no longer present in the tumor cells at the time of detection. While the study found limited direct evidence of human polyomaviruses in Fanconi Anemia-related HNSCC, this mechanism suggests that a past viral infection could still have contributed to the cancer's development. It may be difficult to confirm, especially if the virus is gone.

Besides viral infections, what other factors might contribute to the increased risk of cancer in individuals with Fanconi Anemia, and what further research is needed?

Individuals with Fanconi Anemia (FA) have impaired immune function, making them more vulnerable to other environmental factors that could contribute to cancer development. Future research with larger, more uniform sample sets is needed to draw more definitive conclusions. Additionally, exploring genetic predispositions and other potential environmental exposures is essential to fully understand the complex factors driving cancer risk in FA.