Clonality analysis in primary oral squamous cell carcinoma and related lymph-node metastasis revealed by TP53 and mitochondrial DNA next generation sequencing analysis

Morandi, Luca; Tarsitano, Achille; Gissi, Davide Bartolomeo; Leonardi, Elisa; Balbi, Tiziana; Marchetti, Claudio; Montebugnoli, Lucio; Foschini, Maria Pia

doi:10.1016/j.jcms.2014.11.007

Cited by 18 publications

(7 citation statements)

References 31 publications

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“…1). For patients with multiple primary carcinomas, the local recurrence rate was 14.8% (8/54): 1.9% (1/54) for synchronous first multiple primary carcinomas, 25.9% (14/54) for metachronous second multiple primary carcinomas and 9.3% (5/54) for metachronous third multiple primary carcinomas.…”

Section: Resultsmentioning

confidence: 99%

Clinical features of multiple primary carcinomas of the oral cavity

Li¹,

Ma²,

Han³

et al. 2016

Experimental and Therapeutic Medicine

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Abstract. The present study aimed to elucidate the clinical characteristics of multiple primary carcinomas of the oral cavity. The clinical records of 1,024 patients who were treated during follow-up for oral cancer at the Department of Stomatology, Henan Provincial People's Hospital, between March 2013 and December 2014 were retrospectively reviewed. The clinical characteristics of 961 patients who developed single primary oral squamous cell carcinoma (SCC) during follow-up and 54 patients who subsequently developed multiple primary carcinomas in the oral cavity were compared. Multiple primary carcinomas exhibited a female predilection, were most prevalent in the gingiva, and tended to show earlier tumor and nodal stages, as compared with single primary carcinomas. The local recurrence rate was higher for multiple primary carcinomas, as compared with single primary carcinomas, and was demonstrated to increase with the number of multiple primary occurrences. The cumulative incidence rates for metachronous second primary carcinomas following the onset of the first carcinoma at 10 years was 8.0%. Recurrence of multiple primary carcinomas did not decrease the survival rates of the patients assessed in the present study. Furthermore, differences were detected in the clinical characteristics between patients with single oral SCC and those with multiple primary oral carcinomas. The results of the present study indicated that early diagnosis and treatment and close long-term follow-up are required for patients with multiple primary oral carcinomas.

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Section: Resultsmentioning

confidence: 99%

Clinical features of multiple primary carcinomas of the oral cavity

Li¹,

Ma²,

Han³

et al. 2016

Experimental and Therapeutic Medicine

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“…[ 19 ] However, the different biological growth patterns of malignancies mean that the identification of and socio-demographic and clinicopathological risk factors is still of utmost importance for predicting mortality. [ 20 , 21 ] However, data on socio-demographic and clinicopathological characteristics of patients with OSCC are still rare and therefore, for clarification, need to be obtained for a larger numbers of patients. [ 22 ] Therefore, the present retrospective, single-center study investigated the importance of socio-demographic and clinicopathological parameters that influence the mortality rate of the patients suffering from OSCC in the Kelantanse population.…”

Section: Introductionmentioning

confidence: 99%

Risk factors associated with the mortality rate of oral squamous cell carcinoma patients

Ahmad

Nawaz²,

Qurban³

et al. 2021

Medicine

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In Malaysia, oral cancer is very common and the reported 5-year survival of such patients is nearly 50% after treatment with surgery and radiotherapy, much lower than most of the developed countries. This study aimed to investigate the socio-demographic and clinicopathological parameters that influence the mortality rate of the patients suffering from oral squamous cell carcinoma (OSCC) in the Kelantanse population. In this retrospective study, data regarding socio-demographic, clinicopathological factors, and treatment outcome associated with OSCC were gathered from the archives of the medical records office of Hospital Universiti Sains Malaysia. For statistical analysis, simple and multiple logistic regression were performed. The significance level was set to P < .25. A total of 211 OSCC cases were registered in Hospital Universiti Sains Malaysia from January 1, 2000 to December 31, 2018. Majority of them were male (57.82%), non-smoker (54.97%), non-alcohol consumer (91.94%), and non-betel quid chewer (93.83%) Malay (60.66%) patients. The tongue was the most commonly involved part of the oral cavity (41.52%). Histologically, the majority of the cases had moderately-differentiated OSCC (52.82%). Most of the patients were diagnosed at stage IV at the time of diagnosis (61.61%). When this study was performed, the survival status of the majority of the patients was alive (68.24%). Within the analyzed socio-demographic and clinicopathological parameters, gender, alcohol consumption, T-classification, histological grading, and treatment status have been demonstrated as an independent risk factors for mortality rate in multivariate analysis. Hence, these parameters need to be taken into account for the individualized therapy management of OSCC patients.

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“…In fact, our group could demonstrate the involvement of mtDNA mutations in several types of cancer [ 11 , 12 , 13 , 14 ]. Several studies reported a potential role of mtDNA mutations in OSCC [ 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. The majority, however, suffered from limitations such as low sensitivity Sanger sequencing on a very small part of the mtDNA genome, like the D-Loop that undermined the original claims.…”

Section: Introductionmentioning

confidence: 99%

Profiling of Mitochondrial DNA Heteroplasmy in a Prospective Oral Squamous Cell Carcinoma Study

Fendt

Fazzini

Weißensteiner

et al. 2020

Cancers

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While a shift in energy metabolism is essential to cancers, the knowledge about the involvement of the mitochondrial genome in tumorigenesis and progression in oral squamous cell carcinoma (OSCC) is still very limited. In this study, we evaluated 37 OSCC tumors and the corresponding benign mucosa tissue pairs by deep sequencing of the complete mitochondrial DNA (mtDNA). After extensive quality control, we identified 287 variants, 137 in tumor and 150 in benign samples exceeding the 1% threshold. Variant heteroplasmy levels were significantly increased in cancer compared to benign tissues (p = 0.0002). Furthermore, pairwise high heteroplasmy frequency difference variants (∆HF% > 20) with potential functional impact were increased in the cancer tissues (p = 0.024). Fourteen mutations were identified in the protein-coding region, out of which thirteen were detected in cancer and only one in benign tissue. After eight years of follow-up, the risk of mortality was higher for patients who harbored at least one ∆HF% > 20 variant in mtDNA protein-coding regions relative to those with no mutations (HR = 4.6, (95%CI = 1.3–17); p = 0.019 in primary tumor carriers). Haplogroup affiliation showed an impact on survival time, which however needs confirmation in a larger study. In conclusion, we observed a significantly higher accumulation of somatic mutations in the cancer tissues associated with a worse prognosis.

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Clonality analysis in primary oral squamous cell carcinoma and related lymph-node metastasis revealed by TP53 and mitochondrial DNA next generation sequencing analysis

Cited by 18 publications

References 31 publications

Clinical features of multiple primary carcinomas of the oral cavity

Clinical features of multiple primary carcinomas of the oral cavity

Risk factors associated with the mortality rate of oral squamous cell carcinoma patients

Profiling of Mitochondrial DNA Heteroplasmy in a Prospective Oral Squamous Cell Carcinoma Study

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