2026-05-30T09:32:30Zhttps://riuma.uma.es/rest/oai/request

oai:riuma.uma.es:10630/356512026-02-03T10:53:22Zcom_10630_2254col_10630_37953

Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma Errazquin, Ricardo Carrasco, Estela Del Marro, Sonia Suñol, Anna Peral, Jorge Ortiz, Jessica Rubio, Juan Carlos Segrelles, Carmen Dueñas, Marta Garrido-Aranda, Alicia Alvarez, Martina Belendez, Cristina Balmaña, Judith Garcia-Escudero, Ramon Oncología Boca -- Cáncer Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma (OSCC) and oral potentially malignant lesions (OPMLs) at early ages. As patients have defects in their DNA repair mechanisms, standard-of-care treatments for OSCC such as radiotherapy and chemotherapy, give rise to severe toxicities. New methods for early diagnosis are urgently needed to allow for treatment in early disease stages and achieve better clinical outcomes. We conducted a prospective, longitudinal study wherein liquid biopsies from sixteen patients with no clinical diagnoses of OPML and/or OSCC were analyzed for the presence of mutations in cancer genes. The DNA from saliva and plasma were sequentially collected and deep-sequenced, and the clinical evaluation followed over a median time of approximately 2 years. In 9/16 FA patients, we detected mutations in cancer genes (mainly TP53) with minor allele frequencies (MAF) of down to 0.07%. Importantly, all patients that had mutations and clinical follow-up data after mutation detection (n = 6) developed oral precursor lesions or OSCC. The lead-time between mutation detection and tumor diagnosis ranged from 23 to 630 days. Strikingly, FA patients without mutations displayed a significantly lower risk of developing precursor lesions or OSCCs. Therefore, our diagnostic approach could help to stratify FA patients into risk groups, which would allow for closer surveillance for OSCCs or precursor lesions. 2024-12-13T09:52:52Z 2024-12-13T09:52:52Z 2024-12-13T09:52:52Z 2023-03-21 journal article Errazquin, R.; Carrasco, E.; Del Marro, S.; Suñol, A.; Peral, J.; Ortiz, J.; Rubio, J.C.; Segrelles, C.; Dueñas, M.; Garrido-Aranda, A.; et al. Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma. Cancers 2023, 15, 1871. https://doi.org/10.3390/ cancers15061871 https://hdl.handle.net/10630/35651 10.3390/ cancers15061871 eng http://creativecommons.org/licenses/by/4.0/ open access Atribución 4.0 Internacional MDPI