Natural History Study of Squamous Cell Carcinoma Risk in People with Fanconi Anemia Screening for Early Signs of Cancer in Adolescents and Adults with FA

What this Trial Is About

Fanconi anemia FA is an inherited disorder that increases the risk of developing certain cancers, especially squamous cell carcinoma SCC, which commonly affects the mouth, esophagus, and genital and anal regions. This study aims to better understand the natural history of SCC in people with FA by regularly screening for early signs of these cancers. The research focuses on adolescents and young adults with FA, using detailed clinical evaluations and biospecimen collection to track cancer development and progression. Participants will undergo comprehensive cancer screenings, including physical exams, blood and saliva sample collection, cheek swabs, and possibly skin biopsies. Specialists will examine areas such as the ears, nose, throat, teeth, and skin. Adult participants may also have gastrointestinal or pelvic exams, including endoscopy and liver ultrasound to capture images of internal organs. Screenings occur annually for up to 10 years, with each visit lasting up to 3 days, supplemented by remote follow-up visits every 6 to 8 months. During participation, individuals will complete questionnaires and undergo clinical and research laboratory tests, along with medical record reviews. Photographs of the mouth will document any sores, and brush biopsies will collect cells from suspicious areas. Researchers will monitor the development and changes in oral potentially malignant lesions OPMLs and other indicators of SCC risk. The study aims to identify biomarkers and mechanisms behind cancer development in FA, contributing to improved screening guidelines and possible enrollment in future intervention trials. Participants may be involved for many years, providing valuable information about the diseases progression and early detection methods.

Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia