Evidence for the approach to the diagnostic evaluation of squamous cell carcinoma occult primary tumors of the head and neck

Golusiński, Paweł; Maio, Pasquale Di; Pehlivan, Berrin; Colley, Steve; Nankivell, Paul; Kong, Anthony; Hartley, A.; Mehanna, Hisham

doi:10.1016/j.oraloncology.2018.11.020

Cited by 43 publications

(36 citation statements)

References 62 publications

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“…Head and neck squamous cell carcinoma of unknown primary origin is a challenging diagnosis of exclusion, which should be performed undertaking the shortest and the least invasive diagnostic pathway, with low morbidity and maximum cost effectiveness . Regarding the proper timing of the NBI assessment in the SCCUP, although we have selected studies with patients already scanned with conventional radiological investigations for the reasons mentioned above, we agree with the recent statements by Piazza et al, in which it is suggested that NBI should be executed in the outpatient clinic after WL endoscopy, and before any kind of imaging.…”

Section: Discussionsupporting

confidence: 70%

“…Moreover, another interesting and emerging field of application is the identification of occult mucosal lesions in patients with head and neck squamous cell carcinoma of unknown primary (SCCUP) origin. In this subgroup of patients, which represents one of the most challenging management for the ENT specialist, the endoscopic examination is an essential part of clinical evaluation . Therefore, since the first report by Hayashi et al the addition of the NBI analysis to the traditional diagnostic work up has become increasingly frequent and subject of research.…”

Section: Introductionmentioning

confidence: 99%

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Narrow band imaging in head and neck unknown primary carcinoma: A systematic review and meta‐analysis

et al. 2019

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Objective To estimate the diagnostic performance of Narrow Band Imaging (NBI) in patients with cervical metastasis from head and neck squamous cell carcinoma of unknown primary (SCCUP) origin. Methods PubMed, Embase, and Scopus databases were systematically scrutinized up to July 1, 2019, looking for studies that encompassed the NBI in the SCCUP diagnostic work up. The main inclusion criteria for eligible articles for the meta‐analysis were non‐evidence of primary tumor after physical examination and conventional cross‐section imaging before NBI assessment and the availability of complete data on the diagnostic accuracy of NBI. A set of random‐effects model meta‐analyses was then performed following the Meta‐analysis of Observational Studies in Epidemiology (MOOSE) guidelines. Results Five studies, conducted between January 2003 and September 2016, comprising 169 patients imaged with NBI, were included in the meta‐analysis. The pooled sensitivity and specificity of NBI in patients with head and neck SCCUP was 0.83 (99% CI, 0.54–0.95) and 0.88 (99% CI, 0.55–0.97), respectively. The positive and negative likelihood ratios were 6.38 (99% CI, 1.6–25.44) and 0.06 (99% CI, 0.005–0.86). The pooled diagnostic odds ratio (DOR) was 82.15 (99% CI, 7.06–955). The overall detection rate of NBI was 0.35 (99% CI, 0.18–0.53), which allowed localization the primary tumor in 61 out of 169 patients, otherwise not detected by the usual diagnostic work‐up. Conclusions Current available evidence suggests that NBI has a considerable diagnostic accuracy in patients affected by head and neck SCCUP. Laryngoscope, 130:1692–1700, 2020

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Section: Discussionsupporting

confidence: 70%

Section: Introductionmentioning

confidence: 99%

Narrow band imaging in head and neck unknown primary carcinoma: A systematic review and meta‐analysis

et al. 2019

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“…The prognosis of HNSCC is largely based on pathological staging systems. Current post-treatment surveillance of HNSCC patients is monitored via clinical evaluation combined with flexible endoscopy and conventional imaging [2]. Genomic sequencing has delivered vast amounts of information regarding different cancer subtypes and is providing new therapeutic targets [3].…”

Section: Introductionmentioning

confidence: 99%

Identification of novel methylation markers in HPV-associated oropharyngeal cancer: genome-wide discovery, tissue verification and validation testing in ctDNA

et al. 2020

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Human papilloma virus (HPV)-associated oropharyngeal cancer (OPC) is an independent tumour type with regard to cellular, biological, and clinical features. The use of non-invasive biomarkers such as circulating tumour DNA (ctDNA) may be relevant in early diagnosis and eventually improve the outcomes of patients with head and neck squamous cell carcinoma (HNSCC). Genome-wide discovery using RNA sequencing and reduced representation bisulfite sequencing yielded 21 candidates for methylation-targeted genes. A verification study (252 HNSCC patients) using quantitative methylationspecific PCR (Q-MSP) identified 10 genes (ATP2A1, CALML5, DNAJC5G, GNMT, GPT, LY6D, LYNX1, MAL, MGC16275, and MRGPRF) that showed a significant increase recurrence in methylation groups with OPC. Further study on ctDNA using Q-MSP in HPV-associated OPC showed that three genes (CALML5, DNAJC5G, and LY6D) had a high predictive ability as emerging biomarkers for a validation set, each capable of discriminating between the plasma of the patients from healthy individuals. Among the 42 ctDNA samples, methylated CALML5, DNAJC5G, and LY6D were observed in 31 (73.8%), 19 (45.2%), and 19 (45.2%) samples, respectively. Among pre-treatment ctDNA samples, methylated CALML5, DNAJC5G, and LY6D were observed in 8/8 (100%), 7/8 (87.5%), and 7/8 (87.5%) samples, respectively. Methylated CALML5, DNAJC5G, and LY6D were found in 2/8 (25.0%), 0/8 (0%), and 1/8 (12.5%) of the final samples in the series, respectively. Here, we present the relationship between the methylation status of three specific genes and cancer recurrence for risk classification of HPV-associated OPC cases. In conclusion, ctDNA analysis has the potential to aid in determining patient prognosis and real-time surveillance for disease recurrences and serves as an alternative method of screening for HPVassociated OPC.

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“…The treatment strategy for patients with HNSCC is generally guided by tumor-node-metastasis (TNM) classi cation and clinical staging (2). Current pre-and post-treatment surveillance of HNSCC patients involve clinical evaluation combined with exible endoscopy and conventional imaging (3). HNSCC is a heterogeneous disease, and although molecular studies have been used in distinguishing HPV-positive from HPV-negative HNSCC, validated molecular characterizations have not yet been established (4)(5)(6).…”

Section: Introductionmentioning

confidence: 99%

Long interspersed nuclear element 1 hypomethylation has novel prognostic value and potential utility in liquid biopsy for oral cavity cancer

Misawa

Yamada

Mima

et al. 2020

Preprint

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Background New biomarkers are urgently needed to improve personalized treatment approaches for head and neck squamous cell carcinoma (HNSCC). Global DNA hypomethylation has wide-ranging functions in multistep carcinogenesis, and the hypomethylation of long interspersed nucleotide element-1 (LINE-1) has been generally considered to be related with increased retrotransposon activity and induced genome instability. However, little information is available regarding LINE-1 hypomethylation and its prognostic implications in HNSCC. Methods In this study, we analyzed LINE-1 hypomethylation levels in a well-characterized dataset of 317 matched pairs of HNSCC tissues and oral cavity cancer (OCC) circulating tumor DNA (ctDNA) using quantitative real-time methylation and unmethylation PCR. This analysis was performed according to various clinical characteristics and prognostic implications. Results Our results demonstrated that LINE-1 hypomethylation levels were significantly higher in HNSCC tissues than in corresponding normal tissues from the same individuals (P < 0.001). Univariate analysis revealed that high levels of LINE-1 hypomethylation were correlated with poor disease-free survival (DFS; log-rank test, P = 0.038), whereas multivariate analysis demonstrated that it is a significant independent prognostic factor for DFS (hazard ratio: 2.10, 95% confidence interval: 1.02–4.36; P = 0.045). Moreover, patients with high LINE-1 hypomethylation levels exhibited the greatest decrease in 5-hydroxymethylcytosine (5-hmC) levels and increase in tumor-suppressor gene methylation index (P = 0.006 and P < 0.001, respectively). Further ctDNA studies also showed that LINE-1 hypomethylation had high predictive ability for OCC. Conclusions LINE-1 hypomethylation is associated with a higher risk of early OCC relapse, and is hence, a potential predictive biomarker for OCC. Furthermore, 5-hmC levels also exhibited predictive potential in OCC, based on its inverse correlation with LINE-1 hypomethylation levels. LINE-1 hypomethylation analysis, therefore, has applications in determining patient prognosis and real-time surveillance for disease recurrence, and could serve as an alternative method for OCC screening.

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Evidence for the approach to the diagnostic evaluation of squamous cell carcinoma occult primary tumors of the head and neck

Abstract: Evidence for the approach to the diagnostic evaluation of squamous cell carcinoma occult primary tumors of the head and neck

Cited by 43 publications

References 62 publications

Narrow band imaging in head and neck unknown primary carcinoma: A systematic review and meta‐analysis

Narrow band imaging in head and neck unknown primary carcinoma: A systematic review and meta‐analysis

Identification of novel methylation markers in HPV-associated oropharyngeal cancer: genome-wide discovery, tissue verification and validation testing in ctDNA

Long interspersed nuclear element 1 hypomethylation has novel prognostic value and potential utility in liquid biopsy for oral cavity cancer

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