Surveillance of Adolescents and Young Adult Patients with Fanconi Anemia (FA): Awareness of Diagnosing Solid Tumors at a Young Age

ABSTRACT Disclosure All authors have declared no conflicts of interest. A great proportion of FA patients reaches adulthood and become at risk for developing secondary malignancies. In 2009, the High Risk and Cancer Prevention Unit (HRCPU) at Hospital Vall d'Hebron started a follow-up program for adolescents and adult patients with FA. The goal was to advocate for prevention measures to reduce cancer risk, and coordinate a multidisciplinary surveillance for different neoplasms. During annual HRCPU visits, FA patients undergo a complete anamnesis and receive health education. The surveillance program includes: hematological follow up with hemograms and bone marrow aspiration; examination for head and neck lesions by an otolaryngologist; detailed examination of the oral cavity by a maxillofacial specialist; semestral gynecologic examinations for women with annual cervical cytology testing and breast examination. Finally, HPV vaccination is encouraged. Since 2009, 14 FA patients have been enrolled in our follow-up program. Overall, 50% were women, and median age was 22 years (14-32). Their mean age at diagnosis of FA was 6.5 years, 57% belonged to FANCA group and 57% underwent a bone marrow transplantation (BMT). Follow up has ranged from 1 month to 3 years, 70% of patients have adhered properly with the program and 83% of women have received HPV vaccination. So far, 4 patients (29%) have been diagnosed with a malignant tumor and another two with a premalignant lesion. Premalignant lesions were found in the oral cavity (hyperplasia with mild dysplasia of the tongue) and gynecological (squamous intraepithelial lesion of the cervix CIN1). From those diagnosed with cancer, two of them had head and neck tumors. One was a lingual squamous cell carcinoma pT2N1M0 diagnosed at 24 years which recurred at 4 years and the patient died at age 30. The patient had received a BMT at age 8. The other one was a squamous cell carcinoma of the epiglottis pT4N1M0 diagnosed at 32 years in a patient with mosaicism. The third and fourth patients have developed several basal cell carcinomas in the jaw and back since age 21 and both had undergone BMT at 7 and 8 years. Head and neck tumors are frequent neoplasms in young adults with FA, regardless prior BMT. We need to reinforce surveillance and prevention strategies to reduce the risk of malignancies in these locations.