Oral Screening for Cancer Prevention in Fanconi Anemia Patients
Fanconi anemia is a rare genetic disease in which the bone marrow, which is responsible for the formation of blood cells, does not function properly. As a result, fewer red blood cells, white blood cells and platelets are produced in the blood.
Typical symptoms are pallor, tiredness, infections and an increased tendency to bleed.
Increased risk of oral cancer in Fanconi anemia (FA):
Unfortunately, this disease also brings with it an increased risk of various cancers, including oral cancer (squamous cell carcinoma)- Link, which can occur in the mouth, larynx and esophagus. These tumors can occur in young adulthood and are often very aggressive.
The risk is around 500-1000 times higher than the population average (in Germany, around one in 800,000 people develop squamous cell carcinoma every year).
Thanks to advances in treatment, such as bone marrow transplantation and hormone therapy, many people with FA can now reach a later age.
However, if such tumors are detected late, this makes additional treatments such as chemotherapy, immunotherapy or radiotherapy necessary. For people with FA, these therapies pose a particular challenge due to the genetic defects that make DNA repair more difficult. This is why targeted preventive screening is so important: early diagnosis can significantly increase the chances of recovery.
What is the importance of oral screening?
The higher risk for people with FA to develop squamous cell carcinoma means that multifocal (multiple sites at the same time) changes can occur at a young age, including benign lesions (changes or damage to tissue) as well as premalignant (precancerous) and invasive tissue changes (where abnormal cells have already spread to neighboring tissues). Due to the genetic defect underlying FA, conventional therapies are often only tolerated to a very limited extent.
Screening for the early detection of visible precursor lesions (early stages of tissue changes that can become cancer) plays a particularly important role in this patient group. Conspicuous changes, particularly leukoplakia (white patches in the mouth or throat that indicate that the mucous membrane is altered, possibly even abnormal), occur very frequently, increasingly from adulthood onwards. However, as only a small proportion of the changes degenerate, an invasive scalpel biopsy is rarely necessary. A non-invasive brush biopsy can supplement the regular screening for precursor lesions and enable an assessment of the dysplasia (i.e. the abnormal cell changes).
Regular brush biopsies are uncomplicated to perform and allow changes to be observed during the course of screening examinations. If the cytological findings are doubtful or positive, a scalpel biopsy should be performed immediately. In particular, lesions with a mixed appearance of leukoplakia (white areas) and erythroplakia (red areas/inflammation) can be classified more reliably and necessary surgical measures can be initiated earlier.
From what Age or Stage is Oral Screening advisable?
- From the age of 12: Semi-annual screening as part of dental care
- From adulthood: Intensified oral screening, ideally 3-4 times a year
- If oral lesions are present: Oral screening at least four times a year, if possible supplemented by brush biopsies (painless brush tapping)
- If a tumor is suspected, a scalpel biopsy is required (minimally invasive procedure)
Further information and support for those affected and their relatives can be found at fanconi.de
Our practice has been certified by the German Cancer Society DKG since 2025 and is part of the Onkologichen Zentrums Offenbach (OCO)
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