Epigenetic markers of esophageal cancer: DNA methylation

Vodolazhskiy, D.I.; Kolesnikov, Evgeniy N.; Timoshkina, Natalya N.

doi:10.1134/s1990750817010048

Cited by 3 publications

(3 citation statements)

References 27 publications

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“…In general, more and more studies have shown that integrating multi-omics detection is a promising methodology for non-invasive early diagnosis of many types of cancer. Both 5mC and 5hmC were presumed to have an important role in gene expression and regulation, and their modification changes were observed in a wide range of malignant tumors, including ESCC [ 32 , 49 – 52 ]. Similarly, the combination of 5hmC and WGS efficiently differentiated very early ESCC from HC either in south or north cohort, implying curable treatment and better survival of ESCC.…”

Section: Discussionmentioning

confidence: 99%

Plasma cell-free DNA 5-hydroxymethylcytosine and whole-genome sequencing signatures for early detection of esophageal cancer

Lu,

Wu,

et al. 2023

Cell Death Dis

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Esophageal cancer is a highly incidence and deadly disease with a poor prognosis, especially in developing countries. Owing to the lack of specific symptoms and early diagnostic biomarkers, most patients are diagnosed with advanced disease, leading to a 5-year survival rate of less than 15%. Early (n = 50) and middle-advanced (n = 50) esophageal squamous cell carcinoma (ESCC) patients, as well as 71 healthy individuals, underwent 5-hydroxymethylcytosine (5hmC) sequencing on their plasma cell-free DNA (cfDNA). A Northern Chinese cohort of cfDNA 5hmC dataset of 150 ESCC patients and 183 healthy individuals were downloaded for validation. A diagnostic model was developed using cfDNA 5hmC signatures and then improved by low-pass whole genome sequencing (WGS) features of cfDNA. Conserved cfDNA 5hmC modification motifs were observed in the two independent ESCC cohorts. The diagnostic model with 5hmC features achieved an AUC of 0.810 and 0.862 in the Southern and Northern cohorts, respectively, with sensitivities of 69.3–74.3% and specificities of 82.4–90.7%. The performance was well maintained in Stage I to Stage IV, with accuracy of 70–100%, but low in Stage 0, 33.3%. Low-pass WGS of cfDNA improved the AUC to 0.934 with a sensitivity of 82.4%, a specificity of 88.2%, and an accuracy of 84.3%, particularly significantly in Stage 0, with an accuracy up to 80%. 5hmC and WGS could efficiently differentiate very early ESCC from healthy individuals. These findings imply a non-invasive and convenient method for ESCC detection when clinical treatments are available and may eventually prolong survival.

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Section: Discussionmentioning

confidence: 99%

Plasma cell-free DNA 5-hydroxymethylcytosine and whole-genome sequencing signatures for early detection of esophageal cancer

Lu,

Wu,

et al. 2023

Cell Death Dis

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“…В последнее время молекулярно-генетические методы все шире входят в практику современной онкологии [1]. Заболеваемость злокачественными опухолями слюнных желез относительно низка по сравнению с другими видами рака головы и шеи.…”

Section: Introductionunclassified

Genetic factors influence the survival rate of parotid salivary gland cancer patients

Engibaryan¹,

Kostoev²,

Maksimov³

et al. 2021

jour

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Introduction. The complex of transcriptional proteins of NF-kB (Nuclear Factor kappa-light-chain-enhancer of activated B cells) family deservedly attracts attention as a factor capable of determining the course of malignant disease. Its promising study in combination with the expression of proinflammatory gene IL6 in patients with parotid cancer (PSG) is associated with the development of modulation of malignant disease treatment and risk assessment of the disease course. Aims — to determine the effect of the expression activity of the proinflammatory interleukin-6 gene and the NFKB1 transcriptional gene on the survival rate of patients with parotid cancer. Materials and methods. A cohort retrospective study was conducted in two groups. The epidemiological group of patients included 140 people from the cancer registry of Rostov region. The clinical part of the work was carried out on 25 patients with PSG cancer of both sexes aged 50 to 80 years. Followup period of the patients after radical surgery was 18 years. Expression activity of NFKB1 and IL6 genes was estimated by real-time PCR in tumor and conditionally healthy tissue. Patient survival rate was analyzed using Kaplan-Meier method. Results. According to the results of the survival analysis in the epidemiological group, the probability that an PSG cancer patient would survive the first year after diagnosis was 95.7%, three years — 82.4%, five years — 70.9% and 10 years — 31.2%. A comparative study of gene expression levels in tumor tissue samples compared to conditionally healthy tissue revealed an increase (p<0.001) in the relative index for both the IL6 gene (5.7 times) and the NFKB1 gene (7.9 times).><0.001) in the relative index for both the IL6 gene (5.7 times) and the NFKB1 gene (7.9 times). Discussion. Analysis of our data showed the possibility of using the complex evaluation of NFKB1 and IL6 gene expression in the cells of tumor samples of PSG cancer tissue obtained during surgery to predict the long-term survival of patients after surgical treatment. Conclusions. The expression profile of NFKB1 gene in tumor tissue was a proven prognostic factor determining the course of the disease in patients with PSG cancer, which should be taken into account when forming the prognosis of the disease. The expression of IL6 gene expression in tumor cells had no independent effect on the survival rate of PSG cancer patients, but contributed to the functional activation of NFKB1 transcription gene.

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“…Несмотря на снижение уровня смертности от злокачественных заболеваний, в целом уровень детской онкологической смертности в России на 50% превышает уровень детской смертности от онкологических заболеваний в развитых странах [4]. [8,9].…”

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Childhood Embryonal Tumors: State of the Problem

Popovyan¹,

Kuznetsov²,

Yurchenko³

et al. 2019

СПНО (MPSE)

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Повышение уровня онкологической заболеваемости среди детского населения является одной из самых сложных медико-социальных проблем в нашем мире. За последние десятилетия отмечен рост онкологической патологии в детском возрасте. Наиболее часто встречаемыми у детей являются эмбриональные опухоли, в частности нейробластома и нефробластома. Данные типы опухолей занимают третье и четвертое место среди всех опухолей детского возраста, пик заболеваемости опухолями данного типа приходится на возраст от 3 до 5 лет. В современном мире все больше внимания уделяется изучению молекулярных и генетических механизмов канцерогенеза в детской онкологии. Изменение экспрессии генов, продукты которых принимают участие в регуляции клеточного цикла, влияет на процессы клеточной̆ дифференцировки, а также апоптоза. Данные процессы в свою очередь могут привести к неконтролируемой пролиферации клеток и соответственно к бурному развитию опухолей. В статье представлен обзор современных отечественных и международных исследований, посвященных изучению молекулярно-генетических механизмов канцерогенеза в детском возрасте. Рассматривается значение белков семейства iLBP (intracellular lipid binding proteins) как потенциально значимых в дифференцировке опухолевых клеток. Но, несмотря на проведенные новейшие научные исследования в изучении эмбриональных опухолей детского возраста, вопрос канцерогенеза, генетических, иммуногистохимических и молекулярно-генетических особенностей остается открытым.

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Epigenetic markers of esophageal cancer: DNA methylation

Cited by 3 publications

References 27 publications

Plasma cell-free DNA 5-hydroxymethylcytosine and whole-genome sequencing signatures for early detection of esophageal cancer

Plasma cell-free DNA 5-hydroxymethylcytosine and whole-genome sequencing signatures for early detection of esophageal cancer

Genetic factors influence the survival rate of parotid salivary gland cancer patients

Childhood Embryonal Tumors: State of the Problem

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