Clinical trial · Observational
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
Background: Fanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC). These cancers usually appear first in the mouth, esophagus, and genital and anal areas. Early detection of SCCs may help improve survival rates for people with FA. Objective: This natural history study will regularly screen people with FA for SCC. Eligibility: People aged 12 years and older with FA or a prior cancer diagnosis. Children aged 8 to 11 years with FA may also be eligible. Design: Participants will receive a comprehensive screening for cancer or early signs of cancer. Participants will have a physical exam. They will provide blood and saliva samples. Cells will be collected by rubbing a swab on the inside of the cheeks. A skin sample may be removed from the back, buttocks, or inside of the upper arm. Participants will have pictures taken of their mouth. Any mouth sores will be mapped. Cells will be collected from the sores with a small brush. Specialists will examine the participant s ears, nose, throat, teeth, and skin. Adult participants may have a gastrointestinal exam or pelvic exam. Participants may have an endoscopy. A long tube with a camera and a light will be inserted through the mouth and down into the stomach. Participants may have a liver ultrasound. A wand will be pressed against their belly to get pictures of the organs inside the body. Participants will have screenings every year for up to 10 years. Each visit will last up to 3 days. They will have remote follow-up visits every 6 - 8 months....
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Fanconi Anemia | — | UNRESOLVED | — |
| Inherited Bone Marrow Failure Syndrome | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (1)
- label
- Fanconi anemia
- description
- A prospective cohort of individuals with Fanconi anemia (FA) at very high risk of squamous cell carcinoma (SCC)
Primary outcomes (3)
- measure
- Screen Patients with FA
- timeFrame
- ongoing
- description
- Prospectively screen individuals with FA for early indicators for the development of esophageal and anogenital SCC.
- measure
- Clinical and Pathological Natural History of Oral Potentially Malignant Lesion
- timeFrame
- ongoing
- description
- Characterize the clinical and pathological natural history of OPMLs in AYAs with FA using brush biopsies for cytopathologic diagnosis and aneuploidy and correlate those findings with tissue biopsies and genomic analyses of oral epithelial dysplasia (OED) and SCC.
- measure
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 8 Years
- Maximum age
- 90 Years
Show eligibility criteria text
* INCLUSION CRITERIA: 1. On referral, persons \>= 12 years with FA primarily from North America will be included. An individual with FA who is 8 - 11 years can also be included if they have a history of persistent OPMLs, dysphagia, or other concerning symptoms. 2. Individuals with prior cancer diagnosis are eligible. 3. Individuals from other countries are eligible provided they can travel to the USA on their own. 4. Ability to understand and/or the willingness of the individual, parent, LAR, or minor s legal guardian to provide informed consent. EXCLUSION CRITERIA: 1. Referred individuals for whom reported diagnosis of FA cannot be verified. 2. Inability of the individual, parent, LAR, or legal guardian to understand and be willing to sign a written informed consent document.
References
Publications (2)
- BACKGROUNDVelleuer E, Dietrich R, Pomjanski N, de Santana Almeida Araujo IK, Silva de Araujo BE, Sroka I, Biesterfeld S, Bocking A, Schramm M. Diagnostic accuracy of brush biopsy-based cytology for the early detection of oral cancer and precursors in Fanconi anemia. Cancer Cytopathol. 2020 Jun;128(6):403-413. doi: 10.1002/cncy.22249. Epub 2020 Feb 5. PMID 32022466
- BACKGROUNDAlter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018 Jan;103(1):30-39. doi: 10.3324/haematol.2017.178111. Epub 2017 Oct 19. PMID 29051281