Diagnostic accuracy of brush biopsy-based cytology for the early detection of oral cancer and precursors in Fanconi anemia.
Eunike Velleuer, Ralf Dietrich, Natalia Pomjanski...
https://pubmed.ncbi.nlm.nih.gov/32022466Actively Recruiting
Age: 8Years - 90Years
All Genders
ID05687149
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Led by National Cancer Institute (NCI) · Updated on 2026-03-17
200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the natural history of squamous cell carcinoma (SCC) in people with Fanconi anemia (FA), an inherited disorder that increases the risk of certain cancers, especially SCC in the mouth, esophagus, and genital and anal areas. This observational study aims to screen individuals with FA regularly to detect early signs of these cancers and better understand the development and progression of oral potentially malignant lesions (OPMLs) in this high-risk population. Participants will be part of a comprehensive cancer screening program including physical exams, blood and saliva collection, cheek cell swabs, skin samples, and photographs of the mouth. Specialists will examine ears, nose, throat, teeth, and skin. Adults may undergo additional gastrointestinal or pelvic exams, endoscopy, and liver ultrasound. Screenings occur annually for up to 10 years, with each visit lasting up to 3 days and remote follow-ups every 6 to 8 months. During the study, participants will complete questionnaires and have clinical and research evaluations, including laboratory tests, medical record reviews, and cancer surveillance. Researchers will monitor oral lesions using brush biopsies and genomic analyses to identify markers of cancer risk. The study will measure how lesions progress or regress and aims to develop screening guidelines. Participation may last many years, with ongoing safety and clinical monitoring throughout.
CONDITIONS
Brief Title
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Who Can Participate
Age: 8Years - 90Years
All Genders
Eligibility Criteria
You may qualify if you...
- Persons aged 12 years and older with Fanconi anemia primarily from North America
- Children aged 8 to 11 years with Fanconi anemia who have persistent oral lesions, difficulty swallowing, or other concerning symptoms
- Individuals with a prior cancer diagnosis
- Individuals from other countries who can travel to the USA on their own
- Ability to understand and willingness to provide informed consent by the individual or legal guardian
You will not qualify if you...
- Individuals whose diagnosis of Fanconi anemia cannot be verified
- Individuals or legal guardians unable or unwilling to understand and sign informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Surveillance
Duration - Ongoing throughout the study duration
Participants undergo regular clinical evaluations, questionnaires, laboratory tests, and cancer surveillance to monitor the development and progression of oral potentially malignant lesions and other related cancers.
Periodic visits at the NIH Clinical Center for evaluations and biospecimen collection
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Loading map...
Research Team
N
NCI Family Study Referrals
L
Lisa J McReynolds, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
Blanche P Alter, Neelam Giri, Sharon A Savage...
https://pubmed.ncbi.nlm.nih.gov/29051281