Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-03-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/15/6/1871 |
| _version_ | 1797612921748979712 |
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| author | Ricardo Errazquin Estela Carrasco Sonia Del Marro Anna Suñol Jorge Peral Jessica Ortiz Juan Carlos Rubio Carmen Segrelles Marta Dueñas Alicia Garrido-Aranda Martina Alvarez Cristina Belendez Judith Balmaña Ramon Garcia-Escudero |
| author_facet | Ricardo Errazquin Estela Carrasco Sonia Del Marro Anna Suñol Jorge Peral Jessica Ortiz Juan Carlos Rubio Carmen Segrelles Marta Dueñas Alicia Garrido-Aranda Martina Alvarez Cristina Belendez Judith Balmaña Ramon Garcia-Escudero |
| author_sort | Ricardo Errazquin |
| collection | DOAJ |
| description | 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 <i>TP53</i>) with minor allele frequencies (MAF) of down to 0.07%. Importantly, all patients that had mutations and clinical follow-up data after mutation detection (<i>n</i> = 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. |
| first_indexed | 2024-03-11T06:48:42Z |
| format | Article |
| id | doaj.art-809927a916354dc9b9a99866451b903b |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-11T06:48:42Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-809927a916354dc9b9a99866451b903b2023-11-17T10:08:21ZengMDPI AGCancers2072-66942023-03-01156187110.3390/cancers15061871Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and PlasmaRicardo Errazquin0Estela Carrasco1Sonia Del Marro2Anna Suñol3Jorge Peral4Jessica Ortiz5Juan Carlos Rubio6Carmen Segrelles7Marta Dueñas8Alicia Garrido-Aranda9Martina Alvarez10Cristina Belendez11Judith Balmaña12Ramon Garcia-Escudero13Research Institute Hospital 12 de Octubre (Imas12), University Hospital 12 de Octubre, Av Cordoba s/n, 28041 Madrid, SpainHereditary Cancer Genetics Group, Medical Oncology Department, Vall d’Hebron Institute of Oncology (VHIO), 08035 Barcelona, SpainMolecular Oncology Unit, CIEMAT (Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas), Avenida Complutense 40, 28040 Madrid, SpainHereditary Cancer Genetics Group, Medical Oncology Department, Vall d’Hebron Institute of Oncology (VHIO), 08035 Barcelona, SpainMolecular Oncology Unit, CIEMAT (Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas), Avenida Complutense 40, 28040 Madrid, SpainMolecular Oncology Unit, CIEMAT (Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas), Avenida Complutense 40, 28040 Madrid, SpainResearch Institute Hospital 12 de Octubre (Imas12), University Hospital 12 de Octubre, Av Cordoba s/n, 28041 Madrid, SpainResearch Institute Hospital 12 de Octubre (Imas12), University Hospital 12 de Octubre, Av Cordoba s/n, 28041 Madrid, SpainResearch Institute Hospital 12 de Octubre (Imas12), University Hospital 12 de Octubre, Av Cordoba s/n, 28041 Madrid, SpainCentro de Investigaciones Médico-Sanitarias (CIMES), 29071 Malaga, SpainCentro de Investigaciones Médico-Sanitarias (CIMES), 29071 Malaga, SpainCentro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, SpainHereditary Cancer Genetics Group, Medical Oncology Department, Vall d’Hebron Institute of Oncology (VHIO), 08035 Barcelona, SpainResearch Institute Hospital 12 de Octubre (Imas12), University Hospital 12 de Octubre, Av Cordoba s/n, 28041 Madrid, SpainFanconi 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 <i>TP53</i>) with minor allele frequencies (MAF) of down to 0.07%. Importantly, all patients that had mutations and clinical follow-up data after mutation detection (<i>n</i> = 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.https://www.mdpi.com/2072-6694/15/6/1871Fanconi anemiahead and neck squamous cell carcinomaoral squamous cell carcinomaOSCCSCCoral potentially malignant lesion |
| spellingShingle | Ricardo Errazquin Estela Carrasco Sonia Del Marro Anna Suñol Jorge Peral Jessica Ortiz Juan Carlos Rubio Carmen Segrelles Marta Dueñas Alicia Garrido-Aranda Martina Alvarez Cristina Belendez Judith Balmaña Ramon Garcia-Escudero Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma Cancers Fanconi anemia head and neck squamous cell carcinoma oral squamous cell carcinoma OSCC SCC oral potentially malignant lesion |
| title | Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma |
| title_full | Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma |
| title_fullStr | Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma |
| title_full_unstemmed | Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma |
| title_short | Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma |
| title_sort | early diagnosis of oral cancer and lesions in fanconi anemia patients a prospective and longitudinal study using saliva and plasma |
| topic | Fanconi anemia head and neck squamous cell carcinoma oral squamous cell carcinoma OSCC SCC oral potentially malignant lesion |
| url | https://www.mdpi.com/2072-6694/15/6/1871 |
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