Exploration of Medicine

Special Issue Topic

Molecular Diagnostics in Oncology

Submission Deadline: July 31, 2025

Guest Editor

Prof. Evgeny Imyanitov E-Mail

Head of the Research Division of Tumor Growth Biology, N.N. Petrov Research Institute of Oncology, St. Petersburg, Russia

About the Special Issue

Molecular diagnostics has become an integral part of clinical oncology. There are several areas of its application, e.g., 1) Identification of subjects with hereditary cancer syndromes; 2) Molecular tests for personalization of cancer therapy; 3) Precision histological diagnosis based on subtype-specific tumor markers; 4) Determination of prognosis for cancer disease; 5) Non-invasive methods of early detection and monitoring of malignant clones. Recent invention of next generation sequencing has significantly revolutionized this field of cancer medicine. This Special Issue is devoted to recent advances in clinical cancer genetics, targeted therapy, liquid biopsy, relevant methods of DNA and RNA testing, and other related aspects of molecular medicine.

Keywords: Hereditary cancer syndromes, predictive markers, somatic mutations, liquid biopsy, next-generation sequencing (NGS)

Call for Papers

Published Articles

Open Access

Original Article

Vascular endothelial growth factor (VEGF) as a diagnostic marker of non-small cell lung cancer
Aim: This study was conducted to analyse the ability of Vascular Endothelial Growth Factor (VEGF) in serum and bronchial wash as a diagnostic biomarker of Non-small Cell Lung Carcinoma (NSCLC). [...] Read more.

Aim:

This study was conducted to analyse the ability of Vascular Endothelial Growth Factor (VEGF) in serum and bronchial wash as a diagnostic biomarker of Non-small Cell Lung Carcinoma (NSCLC).

Methods:

This study used an analytic observational study with a cross-sectional design in lung cancer patients. For each study subject, serum and bronchial wash samples were collected, and VEGF levels were tested using the Enzyme-Linked Immunosorbent Assay (ELISA) method. The receiver operating characteristic (ROC) curve analysis was performed to assess the ability of VEGF as a diagnostic biomarker by determining the area under the curve (AUC). Then the best cut-off value will be determined using the Youden Index formula to evaluate the sensitivity and specificity of VEGF to diagnose NSCLC.

Results:

The research subjects consisted of 110 participants, consisting of 75 NSCLC patients and 35 controls. This study found that bronchial wash and serum levels of VEGF in patients with NSCLC were higher than those in the control group (p = 0.010 and p < 0.001). Statistical analysis showed a positive correlation between serum VEGF and bronchial wash VEGF in NSCLC (r = 0.235; p = 0.021). The results of the ROC curve analysis showed a fairly good diagnostic ability for VEGF with an AUC value of 0.653 for bronchial wash VEGF and 0.709 for serum VEGF.

Conclusions:

The results of this study found that VEGF has a crucial role in NSCLC patients. Increased expression of VEGF in NSCLC patients, both in serum and bronchial wash, has the potential to be used as a diagnostic biomarker for NSCLC patients.

Noor Mey Wardhani ... Bulkis Natsir

Published: May 28, 2025 Explor Med. 2025;6:1001327
DOI: https://doi.org/10.37349/emed.2025.1001327

Full Text

PDF

View:170

Download:7

Times Cited: 0

Aim:

This study was conducted to analyse the ability of Vascular Endothelial Growth Factor (VEGF) in serum and bronchial wash as a diagnostic biomarker of Non-small Cell Lung Carcinoma (NSCLC).

Methods:

This study used an analytic observational study with a cross-sectional design in lung cancer patients. For each study subject, serum and bronchial wash samples were collected, and VEGF levels were tested using the Enzyme-Linked Immunosorbent Assay (ELISA) method. The receiver operating characteristic (ROC) curve analysis was performed to assess the ability of VEGF as a diagnostic biomarker by determining the area under the curve (AUC). Then the best cut-off value will be determined using the Youden Index formula to evaluate the sensitivity and specificity of VEGF to diagnose NSCLC.

Results:

The research subjects consisted of 110 participants, consisting of 75 NSCLC patients and 35 controls. This study found that bronchial wash and serum levels of VEGF in patients with NSCLC were higher than those in the control group (p = 0.010 and p < 0.001). Statistical analysis showed a positive correlation between serum VEGF and bronchial wash VEGF in NSCLC (r = 0.235; p = 0.021). The results of the ROC curve analysis showed a fairly good diagnostic ability for VEGF with an AUC value of 0.653 for bronchial wash VEGF and 0.709 for serum VEGF.

Conclusions:

The results of this study found that VEGF has a crucial role in NSCLC patients. Increased expression of VEGF in NSCLC patients, both in serum and bronchial wash, has the potential to be used as a diagnostic biomarker for NSCLC patients.

Open Access

Original Article

Analysis of SDC2 and SEPT9 promoters methylation in plasma cfDNA to detect colorectal and precancerous lesions
Aim: Analysis of circulating free DNA (cfDNA) is now broadly used to diagnose, assess treatment response, and recurrence of various tumor types. Detection of aberrant cfDNA methylation in plasma [...] Read more.

Aim:

Analysis of circulating free DNA (cfDNA) is now broadly used to diagnose, assess treatment response, and recurrence of various tumor types. Detection of aberrant cfDNA methylation in plasma is considered as one of the promising approaches for early-stage cancer detection, giving rise to new diagnostic tools. Colorectal cancer (CRC) has been one of the first malignancies for which relatively reliable diagnostic markers based on methylation analysis have been developed. Here, we aimed to assess the performance of SDC2 and SEPT9 promoter methylation in circulated plasma DNA as potential markers of colorectal precancerous lesions and carcinomas.

Methods:

Plasma samples were collected from donors with unknown cancer status and various anamnesis prior to colonoscopy. Methylation of SDC2 and SEPT9 genes promoters was blindly analyzed by multiplex methylation‑specific PCR using Real-time-PCR-Sept9-SDC2-Met test (BioLink, Russia). Sensitivity, specificity, and AUC of SDC2 and SEPT9 tests were calculated for all groups of cancer and precancerous lesions.

Results:

Among 253 patients, 18 were diagnosed with CRC, 14 with advanced adenomas, and 17 with sessile serrated lesions according to the results of colonoscopy examination with subsequent biopsy. The plasma cell-free DNA test detected all cases of CRC, 11 out of 14 cases of advanced adenoma, and 10 out of 17 cases of sessile serrated lesions. The specificity of the SDC2 marker was 91.2% and 97.6% of SEPT9 marker.

Conclusions:

A minimal-invasive plasma test that detects methylated SDC2 and SEPT9 genes promoters might be considered as a screening method for detecting CRC and pre-cancerous lesions.

Viktoria Borobova ... Sergey Kovalenko

Published: May 21, 2025 Explor Med. 2025;6:1001322
DOI: https://doi.org/10.37349/emed.2025.1001322

Full Text

PDF

View:197

Download:7

Times Cited: 0

Aim:

Analysis of circulating free DNA (cfDNA) is now broadly used to diagnose, assess treatment response, and recurrence of various tumor types. Detection of aberrant cfDNA methylation in plasma is considered as one of the promising approaches for early-stage cancer detection, giving rise to new diagnostic tools. Colorectal cancer (CRC) has been one of the first malignancies for which relatively reliable diagnostic markers based on methylation analysis have been developed. Here, we aimed to assess the performance of SDC2 and SEPT9 promoter methylation in circulated plasma DNA as potential markers of colorectal precancerous lesions and carcinomas.

Methods:

Plasma samples were collected from donors with unknown cancer status and various anamnesis prior to colonoscopy. Methylation of SDC2 and SEPT9 genes promoters was blindly analyzed by multiplex methylation‑specific PCR using Real-time-PCR-Sept9-SDC2-Met test (BioLink, Russia). Sensitivity, specificity, and AUC of SDC2 and SEPT9 tests were calculated for all groups of cancer and precancerous lesions.

Results:

Among 253 patients, 18 were diagnosed with CRC, 14 with advanced adenomas, and 17 with sessile serrated lesions according to the results of colonoscopy examination with subsequent biopsy. The plasma cell-free DNA test detected all cases of CRC, 11 out of 14 cases of advanced adenoma, and 10 out of 17 cases of sessile serrated lesions. The specificity of the SDC2 marker was 91.2% and 97.6% of SEPT9 marker.

Conclusions:

A minimal-invasive plasma test that detects methylated SDC2 and SEPT9 genes promoters might be considered as a screening method for detecting CRC and pre-cancerous lesions.

Open Access

Original Article

Prognostic value of HLA class I expression in patients with cutaneous melanoma and soft tissue sarcomas treated with cancer-testis antigens-based vaccine
Aim: To assess the predictive and prognostic role of HLA class I expression in patients with melanoma (Mel), and soft tissue sarcomas (STS) treated with autologous dendritic cell vaccine (DCV) (C [...] Read more.

Aim:

To assess the predictive and prognostic role of HLA class I expression in patients with melanoma (Mel), and soft tissue sarcomas (STS) treated with autologous dendritic cell vaccine (DCV) (CaTeVac).

Methods:

From 2009 to 2023, 277 patients with Mel (143), and STS (134), received DCV at the N.N. Petrov National Medical Research Center of Oncology in adjuvant (78.3% and 14.9%) and therapeutic (21.7% and 85.1%) setting. HLA-typing was performed using a polymerase chain reaction with sequence-specific primers (PCR-SSP). Progression-free survival (PFS) and overall survival (OS) grouped by the presence of HLA alleles or HLA association rules were assessed using the Kaplan-Meier method (medians of survival in the month are presented).

Results:

Higher OS (41.1 vs. 22.1, P = 0.026) and PFS (6.0 vs. 3.9, P = 0.045) were found in HLA-A heterozygous STS patients, while HLA-B homozygous patients showed better OS (36.4 vs. 87.2, P = 0.023). HLA-A heterozygous Mel patients showed lower PFS (8.3 vs. not reached, P = 0.013). Association rules analysis on HLA expression revealed 20 rules with high confidence, seven of which were associated with the survival. HLA-B*07 and HLA-C*07 (21.2 vs. 52.2), HLA-B*40 and HLA-C*03 (17.6 vs. 45.4), HLA-A*02 and HLA-B*07 and HLA-C*07 (16.8 vs. 47.0), HLA-A*02 and HLA-С*07 (17.6 vs. 41.1), HLA-B*40 and HLA-A*02 and HLA-C*03 (8.3 vs. 50.2) decreased OS in STS (P < 0.05). HLA-A*02 and HLA-B*07 and HLA-C*07 (3.2 vs. 6.0), HLA-B*40 and HLA-A*02 and HLA-C*03 (3.2 vs. 5.9) decreased PFS in STS patients (P < 0.05). HLA-B*35 and HLA-C*04 increased median OS in STS from 33.4 to 153.3 months.

Conclusions:

HLA class I phenotype has a different impact on the survival in Mel and STS patients. The association rules based on HLA coexpression may have prognostic and predictive value. Further investigations of these parameters are warranted (The Trial Registration Number: NCT05539677).

Tatiana L. Nekhaeva ... Irina A. Baldueva

Published: February 27, 2025 Explor Med. 2025;6:1001287
DOI: https://doi.org/10.37349/emed.2025.1001287

Full Text

PDF

View:600

Download:29

Times Cited: 0

Aim:

To assess the predictive and prognostic role of HLA class I expression in patients with melanoma (Mel), and soft tissue sarcomas (STS) treated with autologous dendritic cell vaccine (DCV) (CaTeVac).

Methods:

From 2009 to 2023, 277 patients with Mel (143), and STS (134), received DCV at the N.N. Petrov National Medical Research Center of Oncology in adjuvant (78.3% and 14.9%) and therapeutic (21.7% and 85.1%) setting. HLA-typing was performed using a polymerase chain reaction with sequence-specific primers (PCR-SSP). Progression-free survival (PFS) and overall survival (OS) grouped by the presence of HLA alleles or HLA association rules were assessed using the Kaplan-Meier method (medians of survival in the month are presented).

Results:

Higher OS (41.1 vs. 22.1, P = 0.026) and PFS (6.0 vs. 3.9, P = 0.045) were found in HLA-A heterozygous STS patients, while HLA-B homozygous patients showed better OS (36.4 vs. 87.2, P = 0.023). HLA-A heterozygous Mel patients showed lower PFS (8.3 vs. not reached, P = 0.013). Association rules analysis on HLA expression revealed 20 rules with high confidence, seven of which were associated with the survival. HLA-B*07 and HLA-C*07 (21.2 vs. 52.2), HLA-B*40 and HLA-C*03 (17.6 vs. 45.4), HLA-A*02 and HLA-B*07 and HLA-C*07 (16.8 vs. 47.0), HLA-A*02 and HLA-С*07 (17.6 vs. 41.1), HLA-B*40 and HLA-A*02 and HLA-C*03 (8.3 vs. 50.2) decreased OS in STS (P < 0.05). HLA-A*02 and HLA-B*07 and HLA-C*07 (3.2 vs. 6.0), HLA-B*40 and HLA-A*02 and HLA-C*03 (3.2 vs. 5.9) decreased PFS in STS patients (P < 0.05). HLA-B*35 and HLA-C*04 increased median OS in STS from 33.4 to 153.3 months.

Conclusions:

HLA class I phenotype has a different impact on the survival in Mel and STS patients. The association rules based on HLA coexpression may have prognostic and predictive value. Further investigations of these parameters are warranted (The Trial Registration Number: NCT05539677).

Guest Editor

About the Special Issue

Call for Papers

Published Articles

Aim:

Methods:

Results:

Conclusions:

Aim:

Methods:

Results:

Conclusions:

Aim:

Methods:

Results:

Conclusions:

Aim:

Methods:

Results:

Conclusions:

Aim:

Methods:

Results:

Conclusions:

Aim:

Methods:

Results:

Conclusions: