Oncology最新文献

{"title":"A Novel Index Including Age, Sex, hTERT, and Methylated RUNX3 Is Useful for Diagnosing Early Gastric Cancer.","authors":"Katsuhiko Nakamura, Yutaka Suehiro, Koichi Hamabe, Atsushi Goto, Shinichi Hashimoto, Yuki Kunimune, Akiyo Ishiguro, Naoko Okayama, Tomohiro Fujii, Yukiko Nakahara, Mitsuaki Nishioka, Shingo Higaki, Ikuei Fujii, Chieko Suzuki, Jun Nishikawa, Isao Sakaida, Taro Takami, Takahiro Yamasaki","doi":"10.1159/000541173","DOIUrl":"10.1159/000541173","url":null,"abstract":"<p><strong>Introduction: </strong>As the incidence of gastric cancer (GC) is increasing in East Asia including Japan, a simple blood test for early GC is needed as an alternative to upper gastrointestinal (UGI) endoscopy. We performed this study to address this issue.</p><p><strong>Methods: </strong>We collected serum samples from 319 participants comprising 225 healthy subjects without GC (control group) and 94 patients with early GC (early GC group). After evaluating copy numbers of serum hTERT and methylated RUNX3 (m-RUNX3) using the Combined Restriction Digital PCR (CORD) assay, which we developed, we assessed the diagnostic performance of hTERT and m-RUNX3 for early GC.</p><p><strong>Results: </strong>Serum levels of hTERT and m-RUNX3 were significantly higher in the early GC group than in the control group. The area under the curve (AUC) was 0.89 for hTERT and 0.78 for m-RUNX3. Multivariate logistic regression analysis revealed age, sex, hTERT copy number, and m-RUNX3 copy number to be independent factors for early GC. We then established a prediction formula and named it the ASTEm-R3 (age, sex, hTERT, and m-RUNX3) index. The AUC of the ASTEm-R3 index was 0.93 with a sensitivity of 79.7% and specificity of 91.1%.</p><p><strong>Conclusion: </strong>We demonstrated excellent performance of the ASTEm-R3 index using the CORD assay to detect early GC. This index might be a promising alternative to UGI endoscopy.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"1-7"},"PeriodicalIF":2.5,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a Diagnostic Model for Pancreatic Ductal Adenocarcinoma Using Machine Learning and Blood-Based miRNAs.","authors":"Jason Y Tang, Valentina L Kouznetsova, Santosh Kesari, Igor F Tsigelny","doi":"10.1159/000540329","DOIUrl":"10.1159/000540329","url":null,"abstract":"<p><strong>Introduction: </strong>Pancreatic ductal adenocarcinoma (PDAC) has the lowest survival rate among all major cancers due to a lack of symptoms in early stages, early detection tools, and optimal therapies for late-stage patients. Thus, effective and non-invasive diagnostic tests are greatly needed. Recently, circulating miRNAs have been reported to be altered in PDAC. They are promising biomarkers because of stability in the blood, ease of non-invasive detection, and convenient screening methods. This study aimed to use blood-based miRNA biomarkers and various analysis methods in the development of a machine-learning (ML) model for PDAC.</p><p><strong>Methods: </strong>Blood-based miRNAs associated with PDAC were collected from open sources. miRNA sequences, targeted genes, and involved pathways were used to construct a set of descriptors for an ML model.</p><p><strong>Results: </strong>Bioinformatics analysis revealed that most genes in pancreatic cancer and insulin signaling pathways were targeted by the PDAC-related miRNAs. The best-performing ML model with the Random Forest classifier was able to achieve an accuracy of 88.4%. Model evaluations of an independent PDAC-associated miRNAs test set had 100% accuracy while non-cancer miRNAs had 52.4% accuracy, indicating specificity to PDAC.</p><p><strong>Conclusions: </strong>Our results suggest an ML model developed using blood-based miRNA biomarkers' target gene, pathway, and sequence features could be potentially implicated in PDAC diagnostics.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"1-10"},"PeriodicalIF":2.5,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142133333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utility of Assessing Early Tumor Shrinkage as an Efficacy Predictor in Patients with Non-Surgically Indicated or Recurrent Esophageal Cancer Treated with Nivolumab plus Ipilimumab.","authors":"Seiji Natsuki, Shigeru Lee, Hiroaki Kasashima, Yuichiro Miki, Tatsunari Fukuoka, Mami Yoshii, Tatsuro Tamura, Masatsune Shibutani, Takahiro Toyokawa, Hiroaki Tanaka, Maeda Kiyoshi","doi":"10.1159/000540851","DOIUrl":"10.1159/000540851","url":null,"abstract":"<p><strong>Introduction: </strong>Nivolumab plus ipilimumab combination therapy has been administered as a first-line treatment in Japan since 2022 for patients with unresectable progressive or recurrent esophageal cancer. The efficacy and safety of this immune checkpoint inhibitor (ICI) doublet therapy are now being evaluated, and it is necessary to identify populations that benefit from this treatment at an early phase after initiation. For patients not showing early benefit, changing as soon as possible to other therapeutic strategies could improve their survival outcomes. Therefore, we attempted to identify decision-making factors such as early tumor shrinkage (ETS) based on treatment experience with ICI doublet therapy.</p><p><strong>Methods: </strong>The study included 19 patients who received nivolumab plus ipilimumab for non-surgically indicated or recurrent esophageal cancer between July 2022 and November 2023. Tumors were assessed approximately every 2 months after treatment initiation. The effects of ETS, depth of response (DpR), and clinicopathologic features, including immune-related adverse events (irAEs), on progression-free and overall survival were evaluated using Kaplan-Meier plots and Cox proportional hazard models.</p><p><strong>Results: </strong>The mean duration of ICI doublet administration was 5.89 months (range, 1-16 months). At first evaluation, patients who exhibited no tumor progression &gt;20% indicated possible response to ICI doublet therapy, and patients whose tumors shrank even minimally exhibited favorable progression-free survival. Higher DpR at any cut-off line exhibited better progression-free survival than those with lower DpR. Fifteen patients experienced irAEs, with 13 of these patients experiencing irAEs within 3 months of treatment initiation. irAEs were associated with the efficacy of ICI doublet therapy, but efficacy could not be predicted based on early irAE experience.</p><p><strong>Conclusion: </strong>ETS-high, DpR-high, and irAEs might be associated with favorable responses to nivolumab plus ipilimumab. As a predictor of efficacy at an early phase, ETS &gt;0% could be a deciding factor for continuing ICI doublet therapy.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"1-12"},"PeriodicalIF":2.5,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142110356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Insulin Receptor Substrate 1 Expression in the Prognosis of Head and Neck Squamous Cell Carcinoma: A Systematic Review and Meta-Analysis.","authors":"Deeksheetha Prabhuvenkatesh, Pratibha Ramani, Monal B Yuwanati, Gheena Sukumaran","doi":"10.1159/000541004","DOIUrl":"10.1159/000541004","url":null,"abstract":"<p><strong>Introduction: </strong>Head and neck squamous cell carcinoma (HNSCC) is the most common mucosal neoplasm that affects the head and neck region. It is the 6th most common cancer globally, most commonly seen in South Asian countries. Insulin receptor substrate 1 (IRS-1), like insulin receptor, is an adapter protein that integrates multiple transmembrane signals from growth factors and hormones, to regulate cell growth, survival, differentiation, and metabolism. Evidence suggests that IRS-1 plays a vital role in cancer progression and nodal metastasis. The aim was to assess the prognostic implications of the IRS-1 expression in HNSCC from evidence-based results.</p><p><strong>Methods: </strong>A systematic literature search was done to identify articles describing IRS-1 and HNSCC carried out for PubMed, Cochrane, and Google Scholar, using MeSH terms.</p><p><strong>Results: </strong>A total of 486 cases of HNSCC were included in this systematic review. Out of 3 studies, increased/high expression of IRS-1 was 67%. 64% of the cases in stage I and stage II (TNM staging) showed higher expression of IRS-1, whereas 70% of stage III and stage IV cases showed upregulation of IRS-1. IRS-1 was equally upregulated in cases with lymph node metastasis as well as in cases without any lymph node metastasis. 74% of the patients who showed high expression of IRS-1 showed high mortality during the follow-up period of 13 months.</p><p><strong>Conclusion: </strong>This review concluded that elevated levels of IRS-1 expression were associated with poor prognosis and increased lymph node metastasis.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"1-11"},"PeriodicalIF":2.5,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142073489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pulmonary Adenocarcinoma with Enteric Differentiation without TTF-1 Expression Is a Very Rare Subtype with Limited Treatment Options and Poor Prognosis.","authors":"Franziska Maria Kraus, Alexander Traut, Georg Nilius, Jan Volmerig, Andreas Koziorowski, Imke Stöver, Florian Grabellus, Michael Stahl, Daniel C Christoph","doi":"10.1159/000540515","DOIUrl":"10.1159/000540515","url":null,"abstract":"<p><strong>Introduction: </strong>Pulmonary adenocarcinoma with enteric differentiation (PAED) without thyroid transcription factor-1 (TTF-1) expression is an extremely rare variant of lung cancer. Due to its rarity, few clinicopathological and molecular studies have been performed on PAED, particularly in Caucasian patients. Therefore, it is necessary to obtain clinicopathological data of Caucasian PAED patients without TTF-1 expression, their systemic therapy options, and the efficacy of their systemic treatment.</p><p><strong>Methods: </strong>We examined the clinicopathological features of 121 cases of TTF-1-negative pulmonary adenocarcinoma at a certified German lung cancer center including 79 cases without a PAED and 42 cases with a PAED, compared these subgroups, and investigated patients' response to chemotherapy and immunotherapy as first-line treatment. By using endoscopy and/or a PET-CT, a primary adenocarcinoma of the digestive tract was excluded in all PAED patients.</p><p><strong>Results: </strong>A comparison of clinicopathological data of TTF-1-negative PAED and non-PAED patients revealed a significantly lower frequency of high programmed death receptor ligand 1 (PD-L1) expression in PAED resulting in the lack of single-agent immunotherapy (p = 0.032) in this subgroup. Frequencies of an activating Kirsten rat sarcoma viral oncogene homolog (KRAS) gene mutation were high in both groups (46.7% and 50.0%), but G12C gene mutations were seldomly noted (in 6.7% and 18.5% of patients with evaluable data). Median overall survival (OS) was poor in both groups (10 and 12 months). The majority of PAED patients received platinum-based and taxane-containing chemotherapy or chemo-/immunotherapy with an objective response rate (ORR) of 31.6% and a disease control rate of 57.9%. Median progression-free survival (PFS) and OS of PAED patients with systemic therapy were very poor (3.9 months and 5.9 months).</p><p><strong>Conclusions: </strong>Caucasian patients with TTF-1 negative PAED have a poor prognosis with a reduced ORR to standard first-line systemic therapy and short survival times (PFS and OS).</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"1-13"},"PeriodicalIF":2.5,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High Expression of Cancer-Derived Sialylated Immunoglobulin G: A Novel Biomarker for Poor Prognosis in Laryngeal Squamous Cell Carcinoma.","authors":"Meng Xu, Shenghua Zhang, Ye Zhang, Xiaoyan Qiu, Xiaolei Wang","doi":"10.1159/000540465","DOIUrl":"10.1159/000540465","url":null,"abstract":"<p><strong>Introduction: </strong>Laryngeal squamous cell carcinoma (LSCC) is the most common type of laryngeal cancer, with around 60% of patients being diagnosed at an advanced stage. Recently, cancer-derived sialylated immunoglobulin G (SIA-IgG) has been suggested to play a role in the progression of various epithelial tumors, but its significance in LSCC remains unknown. This study aimed to investigate the clinical significance of SIA-IgG as a novel biomarker in relation to the initiation, progression, and prognostication of LSCC.</p><p><strong>Methods: </strong>Immunohistochemistry (IHC) was utilized to assess SIA-IgG expression in tumor samples from 75 LSCC patients, aiming to investigate its correlation with clinical prognosis. In vitro functional experiments were conducted to explore the impact of SIA-IgG expression on the proliferative and migratory abilities of laryngocarcinoma cells.</p><p><strong>Results: </strong>High expression of SIA-IgG was associated with pT stage, pN stage, TNM stage, and recurrence during follow-up and was correlated with poor disease-free survival (DFS) and overall survival (OS). Multivariate Cox analysis demonstrated that SIA-IgG served as an independent risk factor for OS and DFS. Knocking down SIA-IgG significantly weakened laryngocarcinoma cells' proliferation, clonogenesis, and migration abilities.</p><p><strong>Conclusions: </strong>The frequent expression of SIA-IgG in LSCC is significantly associated with poor prognosis. High levels of SIA-IgG can enhance proliferation and migration in laryngocarcinoma cells. These findings suggest that SIA-IgG has potential as a novel biomarker for LSCC.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"1-10"},"PeriodicalIF":2.5,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Exercise on Cardiotoxicity in Women with Breast Cancer Receiving Anthracycline-Based Chemotherapy: A Systematic Review and Meta-Analysis.","authors":"Cho-Han Chiang, Yu-Cheng Chang, Yulin Haw, Jia Yi Tan, Cho-Hsien Chiang, Yuan Ping Hsia, Cho-Hung Chiang","doi":"10.1159/000535737","DOIUrl":"10.1159/000535737","url":null,"abstract":"<p><strong>Introduction: </strong>Breast cancer is the most common cancer in women with a 5-year survival over 90%. However, anthracycline-based chemotherapy causes significant cardiotoxicity often requiring discontinuation of chemotherapeutic regimen among breast cancer survivors. We conducted a systematic review and meta-analysis to evaluate the efficacy of exercise training in mitigating anthracycline-related cardiotoxicity among women with breast cancer.</p><p><strong>Methods: </strong>We searched PubMed, Embase, Cochrane Central Register of Controlled Trials, Web of Science, and Scopus databases. The outcomes of interest were left ventricular ejection fraction (LVEF), global longitudinal strain (GLS), early to atrial filling velocity (E/A) ratio, maximal oxygen consumption (VO2 max), and cardiac output (CO). We used the Cochrane risk-of-bias tool for randomized trials (RoB 2) to assess the risk of bias in individual studies.</p><p><strong>Results: </strong>We identified a total of 596 articles with 5 trials included in the final analysis. Exercise training was associated with an increase in VO2 max compared with no exercise training (mean difference, 3.95 [95% CI, 0.63-7.26]; I2 = 99.68%). Other cardiovascular outcomes such as LVEF (mean difference, 1.76 [95% CI, -1.95 to 5.46]; I2 = 99.44%), GLS (mean difference, 0.30 [95% CI, -0.49 to 1.10]; I2 = 96.63%), E/A ratio (mean difference, 0.05 [95% CI, -0.05 to 0.15]; I2 = 94.16%), and CO (mean difference, 0.38 [95% CI, -0.91 to 1.66]; I2 = 99.73%) are similar between patients who underwent exercise training and those who did not.</p><p><strong>Conclusions: </strong>Exercise was associated with an improvement in maximal oxygen uptake among women with breast cancer receiving anthracycline-based chemotherapy.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"510-514"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11151974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138806692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disproportionality Analysis of Stomatitis Associated with Anticancer Drugs Using the Japanese Adverse Drug Event Report Database.","authors":"Kousuke Hosonaka, Kenta Yamaoka, Naoe Ikeda, Mayako Uchida, Yoshihiro Uesawa, Kazushige Takahashi, Tadashi Shimizu","doi":"10.1159/000535331","DOIUrl":"10.1159/000535331","url":null,"abstract":"<p><strong>Introduction: </strong>Anticancer drug-induced stomatitis can affect a patient's quality of life and the continuation of drug treatment. Although there have been reports of the occurrence of stomatitis associated with anticancer agents in clinical trials, few Japanese participants have been enrolled in clinical trials and have not been sufficiently investigated. In addition, there has been little attention on research on anticancer drugs associated with stomatitis by patient stratification with different carcinogenic sites. Therefore, the aim of this study was to determine the disproportionality associated with stomatitis for various types of anticancer drugs in different types of cancer patients using the Japanese Adverse Drug Event Report (JADER) database.</p><p><strong>Methods: </strong>The aim of this study was to identify the disproportionality of stomatitis by analyzing the type of anticancer drug and cancer patients using the Japanese Pharmacovigilance Database. Data obtained from spontaneous reports of adverse events with more than 10 stomatitis outbreaks reported in the JADER database between April 2004 and March 2023 were analyzed. The safety signal for an adverse event was defined as the lower limit of the 95% confidence interval of the reported odds ratio of &gt;1.</p><p><strong>Results: </strong>There were 6,178 reports of drugs associated with stomatitis. Among these, 41 drugs were suggested to be associated with stomatitis, and 41 drugs were detected as signals. These drugs were classified based on their efficacy: antipyrimidines (six drugs), folate metabolism antagonists (three drugs), alkylating agents (four drugs), platinum (three drugs), topoisomerase inhibitors (three drugs), microtubule inhibitors (three drugs), mammalian target of rapamycin (mTOR) inhibitors (two drugs), kinase inhibitors (seven drugs), anti-growth factor antibodies (five drugs) immune checkpoint inhibitors (one drug), and others (four drugs).</p><p><strong>Conclusion: </strong>The drugs that may be associated with stomatitis were cell cycle-dependent drugs, epidermal growth factor receptor-tyrosine kinase inhibitors, and mTOR inhibitors. Moreover, this study suggested that anti-growth factor antibodies and immune checkpoint inhibitors may be associated with stomatitis development.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"810-818"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139417740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends in Gastric Cancer Mortality in Montenegro, 1990-2018: Joinpoint Regression.","authors":"Mirjana Nedović Vuković, Marina Jakšić, Brigita Smolović, Miloš Lukić, Zoran Bukumirić","doi":"10.1159/000537739","DOIUrl":"10.1159/000537739","url":null,"abstract":"<p><strong>Introduction: </strong>Gastric cancer (GC) remains a significant global public health problem, despite the decreasing trends in GC mortality rates in the last 5 decades. Our study aimed to examine the pattern of GC mortality in Montenegro between 1990 and 2018 and to contribute to the future by designing a national long-term strategy for the control and prevention of GC.</p><p><strong>Methods: </strong>Gastric cancer mortality data in Montenegro from 1990 to 2018 were collected. Mortality rates were age-standardized to the World Standard Population for estimating both the overall and gender-specific trends. The joinpoint regression model was used to assess GC mortality and identified significant changes in the linear time trend. Linear and Poisson regressions were also applied for additional trend analyses.</p><p><strong>Results: </strong>Joinpoint regression reveals a statistically significant decrease in the age-standardized rate for the overall level, on average by 1.4% per year (AAPC [95% IP] = -1.4 [-2.4 to -0.4]; p = 0.007), which was due to a decrease in the age-standardized rate in men with an average annual change of -1.8% (AAPC [95% IP] = -1.8 [-2.9 to -0.6]; p = 0.003), while in women the rates were stable (p = 0.565). The results for age groups indicate that a decline was registered at the overall level, and among men, as a consequence of the trend of decreasing age-specific rates for the age group 55-64 on average annually by 2% among men (AAPC [95% IP] = -2 [-3.8 to -0.1]; p = 0.035), and for the overall level (AAPC [95% IP] = -2 [-3.7 to -0.3]; p = 0.026).</p><p><strong>Conclusion: </strong>Our findings indicate a noteworthy decline in age-standardized overall GC mortality rates among men in Montenegro, while rates for women have remained constant. National strategies to further reduce mortality rates for GC are necessary.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"880-888"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139906235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive Study of Chromosomal Copy Number Variations and Genomic Variations Predicting Overall Survival in Myelodysplastic Syndromes.","authors":"Nehakumari Maurya, Chandrakala Shanmukhaiah, Somprakash Dhangar, Manisha Madkaikar, Babu Rao Vundinti","doi":"10.1159/000536446","DOIUrl":"10.1159/000536446","url":null,"abstract":"<p><strong>Introduction: </strong>Myelodysplastic syndrome (MDS) is a heterogeneous disease characterized by cytopenia, marrow dysplasia and has a propensity to develop into acute myeloid leukemia. The disease progression is majorly affected by genetic defects. However, about 40-50% of patients with MDS present with a normal karyotype and develop different courses of disease. Hence, there remains a room to advance the biological understanding and find molecular prognostic markers for cytogenetically normal MDS.</p><p><strong>Methods: </strong>We performed a high-resolution CGH + SNP array along with next-generation sequencing (NGS) of 77 primary diagnosed MDS patients, and also they were clinically followed up.</p><p><strong>Results: </strong>Our study revealed 82 clinically significant genomic lesions (losses/gains) in 49% of MDS patients. CGH + SNP array reduced the proportion of normal karyotype by 30%. SNP array in combination with NGS confirmed the biallelic loss of function of the TP53 gene (2/6), which is a clinically relevant biomarker and new genetic-based MDS entity, i.e., MDS-biTP53, as per the new WHO classification 2022. Genomic region 2p22.3 presented with frequent lesions and also with a more hazard ratio (2.7, 95% CI: 0.37-21) when analyzed by Kaplan-Meier survival analysis.</p><p><strong>Conclusion: </strong>CGH + SNP array changed the cytogenetic and IPSS-R risk group in 18% and 13% of patients, respectively, with an improved prediction of prognosis. This study emphasizes the cytogenetic heterogeneity of MDS and highlights that abnormality with chromosome 2 may have a diagnostic and prognostic impact.</p>","PeriodicalId":19497,"journal":{"name":"Oncology","volume":" ","pages":"897-906"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140040003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}