Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma

Ricardo Errazquin
,
Estela Carrasco
,
Sonia Del Marro
,
Anna Suñol
,
Jorge Peral
,
Jessica Ortiz
,
Juan C. Rubio
,
Carmen Segrelles
,
Marta Dueñas
ORCID logo ,
Alicia Garrido-Aranda
,
Martina Álvarez
ORCID logo ,
Cristina Belendez
ORCID logo ,
Judith Balmaña
,
Ramon Garcia-Escudero
* ORCID logo
Version 1 : Received: 15 January 2023 / Approved: 16 January 2023 / Online: 16 January 2023 (09:10:06 CET)

A peer-reviewed article of this Preprint also exists.

Errazquin, R.; Carrasco, E.; Del Marro, S.; Suñol, A.; Peral, J.; Ortiz, J.; Rubio, J.C.; Segrelles, C.; Dueñas, M.; Garrido-Aranda, A.; Alvarez, M.; Belendez, C.; Balmaña, J.; Garcia-Escudero, R. Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma. Cancers 2023, 15, 1871. Errazquin, R.; Carrasco, E.; Del Marro, S.; Suñol, A.; Peral, J.; Ortiz, J.; Rubio, J.C.; Segrelles, C.; Dueñas, M.; Garrido-Aranda, A.; Alvarez, M.; Belendez, C.; Balmaña, J.; Garcia-Escudero, R. Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma. Cancers 2023, 15, 1871.

Abstract

Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma (OSCC) and precursor lesions at young ages, mainly at the oral cavity. As patients have defects in DNA repair mechanisms, standard-of-care treatments to OSCC such as radiotherapy and chemotherapy give rise to severe toxicities. New methods for early diagnosis are urgently necessary to allow treatments in early disease stages and achieve better clinical outcomes. We have conducted a prospective, longitudinal study whereby liquid biopsies from sixteen lesion/tumor-free patients were analyzed for the presence of mutations in cancer genes. DNA from saliva and plasma were sequentially collected and deep-sequenced, and the clinical evolution followed during a median time of around 2 years. In 9/16 FA patients we detected mutations in cancer genes (mainly TP53) with molecular allele frequencies (MAF) down to 0.07 %. Importantly, all patients having mutations and clinical follow-up data after mutation detection (n=6) developed oral precursor lesions or OSCC. Lead-time between mutation detection and tumor diagnosis ranged from 23 to 630 days. Strikingly, FA patients without mutations display significantly lower risk of developing precursor lesions or OSCC. Therefore, our diagnostic approach could help to stratify FA patients into risk groups, which would allow closer surveillance for OSCC or precursor lesions.

Keywords

Fanconi anemia; oral cancer; oral potentially malignant lesion; liquid biopsy; saliva; oral rinse; plasma; next generation sequencing; cancer gene panel; early diagnosis; diagnostic test; deep sequencing

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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