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

Errazquin, Ricardo; Carrasco, Estela; Marro, Sonia Del; Suñol, Anna; Peral, Jorge; Ortiz, Jessica S.; Rubio, J.; Segrelles, Carmen; Dueñas, Marta; Garrido-Aranda, Alicia; Álvarez, Martina; Beléndez, Cristina; Balmañà, Judith; García-Escudero, Ramón

doi:10.20944/preprints202301.0280.v1

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…Treatment for OSCC in FA is challenging since patients are not tolerant of the available treatments, which include platinum-based chemotherapy and ionizing radiation. In FA, the majority of tumors are found at an advanced stage [19].…”

Section: Hereditarymentioning

confidence: 99%

Non-Habit-Related Oral Squamous Cell Carcinoma: A Review

Lalremtluangi,

Dangore-Khasbage

2024

Cureus

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Oral squamous cell carcinoma (OSCC) is a serious and potentially life-threatening condition that can have a profound impact on an individual's health and well-being. Its etiology is commonly known to be habit induced, such as tobacco consumption, smoking, or alcohol abuse. Apart from these etiologies, certain factors that lead to OSCC are also present but are less frequently encountered in hospitals and clinics. However, these non-habitual factors, with their pathogenesis, can lead to OSCC, which may be confusing to certain medical practitioners. This article discusses the various non-habitual causes that can lead to OSCC, as well as their pathophysiology, molecular expression, and related indicators and prognostic factors.

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Section: Hereditarymentioning

confidence: 99%

Non-Habit-Related Oral Squamous Cell Carcinoma: A Review

Lalremtluangi,

Dangore-Khasbage

2024

Cureus

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“… 9 Individuals with FA are at markedly increased risk of hematologic malignancy (acute myeloid leukemia) and solid tumors of the head and neck, genitourinary tract, and skin. 1 , 2 , 3 , 4 , 10 , 11 , 12 …”

Section: Introductionmentioning

confidence: 99%

Liver abnormalities are frequent and persistent in patients with Fanconi anemia

Snyder,

Campbell,

Lane

et al. 2024

Blood Advances

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Liver disease has not been well-described in patients with Fanconi anemia (FA). Chronic hepatobiliary disease in patients with FA has been attributed variously to the consequences of androgen therapy, acute and late toxicities from hematopoietic stem cell transplant and hepatic tumors. Improvements in outcomes of transplant mean that more individuals with FA are reaching adulthood and new features of the FA phenotype are being discovered. We performed a retrospective review of liver function in a cohort of 97 FA patients followed for at least 10 years at a single center. We identified a high frequency of transaminitis without elevation of bilirubin and with no evidence of structural abnormality, in patients with FA. Transaminitis was persistent in many cases, sometimes lasting more than a decade without clinical manifestations. Transaminitis was found in patients who had and had not received transplant but was more frequent in transplant recipients. Exposure to total body irradiation increased risk, while treatment with anabolic steroids did not. Review of limited numbers of liver biopsies and autopsy material showed a cholestatic pattern of liver injury, with progressive fibrosis, in the majority of patients. Occurrence in untransplanted as well as transplanted cases argues against a potential diagnosis of atypical liver graft versus host disease. Limited data regarding therapy suggested no benefit from treatment with steroids or other immune suppressive medications. Our data show that liver disease is common in patients with FA, and as most children with FA now reach adulthood we are starting to see end-stage liver disease.

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Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head–Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay

Koukourakis,

Xanthopoulou,

Koukourakis

et al. 2023

Current Oncology

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Using next-generation sequencing (NGS), we investigated DNA mutations in the plasma tumor cell-free circulating DNA (ctDNA) of 38 patients with inoperable squamous cell head neck cancer (SCHNC) before and after the completion of chemoradiotherapy (CRT). Baseline mutations of the TP53 were recorded in 10/38 (26.3%) and persisted in 4/10 patients after CRT. ΤP53 mutations were further detected post CRT in 7/38 additional patients with undetectable mutations at baseline (overall rate 44.7%). Furthermore, 4/38 patients exhibited baseline mutations of the EGFR, AR, FGFR3, and FBXW3, and four new gene mutations were detected after CRT (MTOR, EGFR3, ALK, and SF3B1). Τ4 stage was related with a significantly higher rate of mutations (TP53 and overall). Mutations were observed in 8/30 (26.6%) responders (complete/partial response) vs. in 6/8 (75%) of the rest of the patients (p = 0.03). Significant poorer LRFS was noted for patients with mutations detected before and after CRT (p = 0.02). Patients who had detectable mutations either before or after CRT had significantly worse DMFS (p = 0.04 overall, and p = 0.02 for TP53 mutations). It was concluded that assessment of mutations before and after the end of CRT is essential to characterize patients with a high risk of locoregional recurrence or metastatic progression.

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

Cited by 3 publications

References 6 publications

Non-Habit-Related Oral Squamous Cell Carcinoma: A Review

Non-Habit-Related Oral Squamous Cell Carcinoma: A Review

Liver abnormalities are frequent and persistent in patients with Fanconi anemia

Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head–Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay

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