Study of the Week: Early GI Cancer Screening is Recommended for Primary Immunodeficiency Patients

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest or importance and go more in-depth. In this story we will talk about the details of the study and explain why it’s important, who will be impacted, and more.

If you read our short form research stories and find yourself wanting to learn more, you’ve come to the right place.


This week’s study is…

Immunogenetics of Gastrointestinal Cancers: A Systematic Review of Inborn Errors of Immunity in Humans

We previously published about this research in a story titled “Primary Immunodeficiency Patients Should be Screened for Gastrointestinal Cancers Early” which can be found here. The study is currently a preprint, has not been peer-reviewed, and has not yet been published. You can view the full text of the study here.

This research team was affiliated with the Columbia University Irving Medical Center and the Woodhull Medical and Mental Health Center.

What Happened?

The immune system plays an important role modulating the tumor microenvironment and in cancer surveillance. In patients with primary immunodeficiency disorders, also called inborn errors of immunity, risk of frequent or chronic bacterial, fungal, or viral infections is greatly increased. The can lead to chronic inflammation and epithelial dysfunction. This dysfunction can be a significant risk factor for early onset cancer affecting the gastrointestinal tract. In this study, scientists evaluated 149 cases that included primary immunodeficiency and gastrointestinal cancer in order to evaluate if these patients appeared to be at greater risk of early onset gastrointestinal cancer.

The 149 cases were drawn from three databases: EMBASE, MEDLINE, and SCOPUS. 95 of them presented with both primary immunodeficiency and gastric cancers. There were also 35 with colorectal cancer, 13 with small bowel cancer, and six with cancers at other areas. In the cases of colorectal and gastric cancers, the age of onset was found to be substantially earlier than in the general population. Common variable immunodeficiency (CVID) was the type of immunodeficiency most associated with gastrointestinal malignancy.

Epstein-Barr virus infection and impaired humoral immunity were widely reported factors that potentially played a role in early onset gastrointestinal cancer. From these results, the researchers concluded that people living with primary immunodeficiency disorders such as common variable immunodeficiency are at greater risk of early onset gastrointestinal cancers. With this in mind, they should be screened for these cancers at an earlier age than the general population.

About Primary Immunodeficiency

Primary immunodeficiency describes a group of disorders which are characterized by some degree of dysfunction of the immune system. These diseases are generally the result of genetic abnormalities and are not the result of other conditions or external factors. In some cases, they may remain latent until a certain environmental trigger causes problems to appear. The symptoms of these disorders may vary considerably in severity and depend on the specific subtype. However, some symptoms may include chronic, persistent infections, developmental delays due to infection, dysfunction of certain organs, and increased vulnerability to autoimmune disorders or blood cancers such as lymphoma. Treatment of most types of primary immunodeficiency is symptomatic and supportive; patients may be told to take steps to avoid exposure to pathogens; medications to enhance immune function and fight infections are also used. To learn more about primary immunodeficiency, click here.

Why Does it Matter?

These findings suggest an update to guidelines so that the presence of primary immunodeficiency disorders can be officially recognized as a risk factor for cancers of the gastrointestinal system, particular early onset cancer. Immunodeficiency disorders also increase the patient’s risk for allergies and autoimmune diseases, but have not been perceived as a risk factor for any form of cancer. There are also no guidelines for screening these patients for cancer.

These changes would herald a major shift in the management and care of patients living with primary immunodeficiency disorders. It would also give them a better chance at surviving a diagnosis of gastrointestinal cancer, as earlier screenings would result in earlier detection. This would give physicians a greater opportunity to treat the cancer in its early stages, when it is like to be more responsive to treatment. Overall, outcomes for these patients would likely improve.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email