Prognostic value of the non invasive procedure based on DNA methylation analysis in patients surgically treated for Oral Cancer

Background: This study aimed to evaluate the prognostic value of a non-invasive sampling procedure based on 13-gene DNA methylation analysis in the follow-up of patients previously treated for oral squamous cell carcinoma (OSCC). Methods: The study population included 49 consecutive patients treated for OSCC. Oral brushing sample collection was performed at two different times: before any cancer treatment in the tumor mass and during patient follow-up almost 6 months after OSCC treatment, within the regenerative area after OSCC resection. Each sample was considered positive or negative in relation to a predefined cut-off value. Results: Before any cancer treatment, 47/49 specimens exceeded the score and were considered as positive. Six months after OSCC resection, 16/49 specimens also had positive scores in the samples collected from the regenerative area. During the follow-up period, 7/49 patients developed locoregional relapse: 6/7 patients had a positive score in the regenerative area after OSCC resection. The presence of a positive score after oral cancer treatment was the most powerful variable related to the appearance of locoregional relapse. Conclusion: 13-gene DNA methylation analysis by oral brushing may have a clinical application as a prognostic non-invasive tool in the follow-up of patients surgically treated for OSCC.

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13-Gene DNA Methylation Analysis from Oral Brushing: A Non Invasive Diagnostic Tool in the Follow-Up of Patients Surgically Treated for Oral Cancer

Proceedings ◽

10.3390/proceedings2019035032 ◽

2019 ◽

Vol 35 (1) ◽

pp. 32

Author(s):

Morselli ◽

Rossi ◽

Morandi ◽

Tarsitano ◽

Gabusi ◽

...

Keyword(s):

Dna Methylation ◽

Squamous Cell Carcinoma ◽

Oral Cancer ◽

Oral Squamous Cell Carcinoma ◽

Diagnostic Tool ◽

Significant Risk ◽

Methylation Analysis ◽

Non Invasive ◽

Dna Methylation Analysis

Patients treated for Oral Squamous Cell Carcinoma (OSCC) showed a significant risk todevelop a loco-regional relapse during follow-up period. [...]

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Clinical Validation of 13-gene DNA Methylation Analysis from Oral Brushing: A Non Invasive Sampling Procedure for Early Detection of Oral Squamous Cell Carcinoma. A Multicentric Study

Proceedings ◽

10.3390/proceedings2019035027 ◽

2019 ◽

Vol 35 (1) ◽

pp. 27

Author(s):

Gissi ◽

Romeo ◽

Tenore ◽

Pentenero ◽

Campisi ◽

...

Keyword(s):

Dna Methylation ◽

Squamous Cell Carcinoma ◽

Oral Squamous Cell Carcinoma ◽

Early Detection ◽

Sampling Procedure ◽

Clinical Validation ◽

Methylation Analysis ◽

Multicentric Study ◽

Non Invasive ◽

Dna Methylation Analysis

In a recent study our research group described a non-invasive sampling procedure based on [...]

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The Prognostic Value of Methylation Signatures and NF2 Mutations in Atypical Meningiomas

Cancers ◽

10.3390/cancers13061262 ◽

2021 ◽

Vol 13 (6) ◽

pp. 1262

Author(s):

Rahmina Meta ◽

Henning B. Boldt ◽

Bjarne W. Kristensen ◽

Felix Sahm ◽

Wenche Sjursen ◽

...

Keyword(s):

Dna Methylation ◽

Prognostic Value ◽

Methylation Analysis ◽

Who Grade ◽

Group I ◽

Genome Wide ◽

Atypical Meningiomas ◽

Dna Methylation Analysis ◽

Recurrence Group ◽

Mutation Analyses

Background: Due to the solely subjective histopathological assessment, the WHO 2016 classification of human meningiomas is subject to interobserver variation. Consequently, the need for more reliable and objective markers are highly needed. The aim of this pilot study was to apply genome-wide DNA methylation analysis on a series of atypical meningiomas to evaluate the practical utility of this approach, examine whether prognostic subclasses are achieved and investigate whether there is an association between the methylation subclasses with poor prognosis and time to recurrence. NF1/2 mutation analyses were also performed to explore the prognostic value of such mutations in these atypical meningiomas. Methods: Twenty intracranial WHO grade II atypical meningiomas from adult patients were included. They consisted of 10 cases with recurrence (group I), and 10 cases without recurrence (group II). The formalin-fixed and paraffin-embedded tissues underwent standardized genome-wide DNA methylation analysis, and the profiles were matched with the reference library and tumor classifier from Heidelberg. NF1/2 somatic mutation analyses were performed using the CNSv1panel from Düsseldorf. Results: Eighteen out of 20 cases matched to the meningioma class using the common brain tumor classifier (v11b4). Four of these cases matched to a methylation subclass related to a prognostic subgroup based on a cut-off of 0.9. NF2 mutations were detected in 55% of cases across both groups, and the most prominent copy number alterations were chromosomal losses of 22q, 1p and 14q. No significant NF1 mutations were identified. Conclusions: Genome-wide DNA methylation profiling represents a useful tool in the diagnostics of meningiomas, however, methodological adjustments need to be addressed.

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Non-invasive detection of endometrial cancer by DNA methylation analysis in urine

Clinical Epigenetics ◽

10.1186/s13148-020-00958-7 ◽

2020 ◽

Vol 12 (1) ◽

Author(s):

Rianne van den Helder ◽

Birgit M. M. Wever ◽

Nienke E. van Trommel ◽

Annina P. van Splunter ◽

Constantijne H. Mom ◽

...

Keyword(s):

Dna Methylation ◽

Endometrial Cancer ◽

Cancer Detection ◽

Characteristic Curve ◽

Sample Type ◽

Methylation Analysis ◽

Urine Sediment ◽

Non Invasive ◽

Diagnostic Potential ◽

Dna Methylation Analysis

Abstract Background The incidence of endometrial cancer is rising, and current diagnostics often require invasive biopsy procedures. Urine may offer an alternative sample type, which is easily accessible and allows repetitive self-sampling at home. Here, we set out to investigate the feasibility of endometrial cancer detection in urine using DNA methylation analysis. Results Urine samples of endometrial cancer patients (n = 42) and healthy controls (n = 46) were separated into three fractions (full void urine, urine sediment, and urine supernatant) and tested for three DNA methylation markers (GHSR, SST, ZIC1). Strong to very strong correlations (r = 0.77–0.92) were found amongst the different urine fractions. All DNA methylation markers showed increased methylation levels in patients as compared to controls, in all urine fractions. The highest diagnostic potential for endometrial cancer detection in urine was found in full void urine, with area under the receiver operating characteristic curve values ranging from 0.86 to 0.95. Conclusions This feasibility study demonstrates, for the first time, that DNA methylation analysis in urine could provide a non-invasive alternative for the detection of endometrial cancer. Further investigation is warranted to validate its clinical usefulness. Potential applications of this diagnostic approach include the screening of asymptomatic women, triaging women with postmenopausal bleeding symptoms, and monitoring women with increased endometrial cancer risk.

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Detection of colorectal cancer in urine using DNA methylation analysis

Scientific Reports ◽

10.1038/s41598-021-81900-6 ◽

2021 ◽

Vol 11 (1) ◽

Cited By ~ 1

Author(s):

S. Bach ◽

I. Paulis ◽

N. R. Sluiter ◽

M. Tibbesma ◽

I. Martin ◽

...

Keyword(s):

Colorectal Cancer ◽

Dna Methylation ◽

Regression Tree ◽

Classification And Regression Tree ◽

Multivariate Logistic Regression ◽

Methylation Analysis ◽

Methylated Dna ◽

Non Invasive ◽

Regression Tree Analysis ◽

Dna Methylation Analysis

AbstractColorectal cancer (CRC) is the second leading cause for cancer-related death globally. Clinically, there is an urgent need for non-invasive CRC detection. This study assessed the feasibility of CRC detection by analysis of tumor-derived methylated DNA fragments in urine. Urine samples, including both unfractioned and supernatant urine fractions, of 92 CRC patients and 63 healthy volunteers were analyzed for DNA methylation levels of 6 CRC-associated markers (SEPT9, TMEFF2, SDC2, NDRG4, VIM and ALX4). Optimal marker panels were determined by two statistical approaches. Methylation levels of SEPT9 were significantly increased in urine supernatant of CRC patients compared to controls (p < 0.0001). Methylation analysis in unfractioned urine appeared inaccurate. Following multivariate logistic regression and classification and regression tree analysis, a marker panel consisting of SEPT9 and SDC2 was able to detect up to 70% of CRC cases in urine supernatant at 86% specificity. First evidence is provided for CRC detection in urine by SEPT9 methylation analysis, which combined with SDC2 allows for an optimal differentiation between CRC patients and controls. Urine therefore provides a promising liquid biopsy for non-invasive CRC detection.

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