Relationship to Cancer

People with Fanconi anemia often develop leukemia and other cancers. In fact, Fanconi anemia patients have a much greater risk of developing acute myeloid leukemia (AML) than people without Fanconi anemia.

A note about FA Gene Mutations in Familial Breast Cancers

Leukemia is a malignancy of the blood system in which the bone marrow produces vast quantities of immature white cells called “blasts.” The blasts can proliferate rapidly and suppress the development of healthy blood cells needed for effective functioning of the patient’s body. If untreated, leukemia results in uncontrollable infections and bleeding, and death. The type of leukemia that FA patients are likely to develop, AML, is a particularly aggressive type, usually found in older people. AML is difficult to treat successfully, especially in FA patients, who are very sensitive to the toxic drugs used to suppress the leukemia.

Other Cancers
Fanconi anemia patients have an extremely high risk of developing squamous cell cancers in areas of the body in which cells normally reproduce rapidly, such as the oral cavity, esophagus, the gastrointestinal tract, the anus and vulva. FA patients may develop these cancers at a much earlier age than people without Fanconi anemia. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problems associated with FA, still must have regular examinations to watch for signs of cancer.

Head and neck squamous cell carcinoma (HNSCC) is a significant threat for people with FA, regardless of bone marrow transplantation status. Not only is the incidence of HNSCC considerably higher than in the general population (500-700 times higher), patients with FA present with these types of cancers at a younger age than those without FA – the median age is 27 years. Regular screenings are critically important.

To help you communicate the urgency of this issue with health care professionals, we’ve prepared two flyers – one for dentists and one for ear, nose and throat doctors (ENTs). The flyers include specific instructions about how to conduct a thorough oral cancer screening exam. We recommend that you take a flyer with you to every visit with your ENT physician and dentist. You can request color copies from our office or download the files in a variety of languages here.**

**Special thanks to FA parent and oral surgeon, David Fiaschetti, who consulted on this project.

The Fanconi Anemia Research Fund supports the ongoing efforts of Dr. Eunike Velleuer and Ralf Dietrich to reduce the burden of squamous cell carcinoma in individuals with FA. To learn more about their project that is provided free of charge, please check out the links below:

Information provided on this page about medications, treatments or products should not be construed as medical instruction or scientific endorsement. Always consult your physician before taking any action based on this information.

of note

Now accepting applications for the $5,000 Amy Winn & Christopher Byrd Award for Adults with FA learn more...

The first Joel Walker Scientific Focus Meeting has been announced learn more...

FARF Receives Grant to Expand Development Program learn more...

Aileen Carlos, Portland-based lawyer, joins the Board of Directors learn more...