Omnia Mansour, Safaa M Ali, Amani Kazem, Abeer El Wakil
{"title":"Modulated calcium-sensing receptor (CaSR) expression in human breast cancer provided insights into tumor progression and therapeutic potential.","authors":"Omnia Mansour, Safaa M Ali, Amani Kazem, Abeer El Wakil","doi":"10.1186/s43046-026-00338-x","DOIUrl":"10.1186/s43046-026-00338-x","url":null,"abstract":"<p><p>The calcium-sensing receptor (CaSR) plays a crucial role in cellular signaling and has been implicated in cancer progression. However, its specific role in breast cancer remains unclear. This study aimed to investigate CaSR gene expression levels, its correlation with oncogenic pathways, and its protein localization in human breast cancer tissues.Quantitative real-time PCR (qRT-PCR) was used to analyze the relative expression of CaSR and associated genes in malignant and adjacent non-malignant breast cancer tissue samples. Pearson correlation analysis was performed to assess relationships between CaSR and other oncogenic markers. Immunohistochemistry (IHC) was conducted to evaluate CaSR protein localization and intensity in different breast cancer grades and fibroadenoma tissues.Our findings revealed that 56% of patients exhibited elevated CaSR expression, with significant positive correlations between CaSR and oncogenic genes such as HOTAIR, SNOR78, BC200, DSG1, DSC1, HER2, BRCA1, p38 MAPK, and Akt (p = 0.001 for most correlations). Additionally, CaSR expression negatively correlated with menopausal status (p = 0.001), suggesting hormonal influences on its regulation. IHC analysis showed strong membranous and cytoplasmic staining in grade II tumors without metastasis (+ 3) but weak or undetectable CaSR expression in advanced metastatic cases. These findings indicate a potential role for CaSR in tumor progression, adhesion, and metastasis.Importantly, this study provides novel evidence linking CaSR expression to non-coding RNAs, desmosomal adhesion molecules, and MAPK/AKT signaling pathways, highlighting previously unexplored mechanisms through which CaSR may influence breast cancer progression and metastatic behavior. Further research is needed to determine its potential as a biomarker or therapeutic target in breast cancer treatment.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"38 1","pages":"1"},"PeriodicalIF":2.2,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13262382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Artificial intelligence-based machine learning models for preoperative diagnosis and staging of ovarian tumors.","authors":"Soheila Aminimoghaddam, Hamid Mokhtari Torshizi, Roghayeh Pourali, Arash Mohazzab","doi":"10.1186/s43046-025-00337-4","DOIUrl":"10.1186/s43046-025-00337-4","url":null,"abstract":"<p><strong>Background: </strong>Ovarian cancer remains the most lethal gynecological malignancy, necessitating precise diagnostic strategies to improve patient outcomes. This study aims to develop and evaluate machine learning models that utilize patient history, imaging, and blood test data to differentiate between benign and malignant ovarian tumors and predict the stage of malignant cases.</p><p><strong>Methods: </strong>A total of 357 individuals diagnosed with ovarian tumors participated in the study. Among these, 139 tumors were identified as benign, 40 as borderline, and 178 as malignant. The analysis employed four machine learning classifiers support vector machine (SVM), random forest (RF), logistic regression (LR), and decision tree utilizing 39 features derived from blood tests, imaging, and the patient's background to generate diagnostic outcomes. The study focused on assessing the significance of these features in predicting malignancy and determining the stage of the disease.</p><p><strong>Results: </strong>The RF algorithm demonstrated the highest accuracy, reaching 94% based on imaging and tumor markers, with an AUC of 0.9. Key features contributing to this success include Human Epididymis Protein 4 (HE4) and Cancer Antigen 125 (CA125). In terms of staging malignant tumors, the SVM exhibited lower error rates, particularly in predicting advanced-stage disease (AUC: 0.77). Notably, CA125 and the presence of ascites emerged as the most influential factors for accurately staging the disease.</p><p><strong>Conclusion: </strong>The utilization of AI models proves effective in accurately classifying both malignant and benign ovarian tumors, showcasing promising advancements in diagnostic capabilities.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"82"},"PeriodicalIF":2.2,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145900634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Current landscape and future prospects of bispecific antibodies in multiple myeloma.","authors":"Sheilabi Seeburun","doi":"10.1186/s43046-025-00336-5","DOIUrl":"10.1186/s43046-025-00336-5","url":null,"abstract":"<p><p>Multiple myeloma (MM) remains an incurable plasma cell malignancy despite advances with proteasome inhibitors, immunomodulatory drugs, and monoclonal antibodies. Bispecific antibodies (BsAbs) have emerged as a transformative, off-the-shelf immunotherapeutic strategy that redirects immune effector cells to eliminate malignant plasma cells. The recent FDA approvals of teclistamab, talquetamab, elranatamab and linvoseltamab have reshaped the therapeutic landscape of relapsed/refractory MM (RRMM), achieving overall response rates (ORR) exceeding 60% in heavily pretreated patients. Teclistamab, targeting BCMA, demonstrated an ORR of 63%, while talquetamab, targeting GPRC5D, achieved an ORR of 74%, even in patients previously treated with T-cell redirection therapies. Elranatamab and linvoseltamab further enriched this armamentarium with comparable efficacy and favorable safety profiles. In addition to these milestones, early-phase data from emerging trispecific antibodies, such as ISB 2001, show ORRs as high as 75% and deep responses, including stringent complete responses (sCR) and minimal residual disease (MRD) negativity. This review provides an integrated analysis of BsAbs in MM, encompassing mechanisms of action, clinical development, efficacy, safety profiles, and future directions. We synthesize the latest clinical trial data, explore strategies for overcoming resistance, and discuss ongoing efforts to optimize combination regimens and sequencing. By critically evaluating these advancements, we highlight the evolving role of BsAbs and trispecific antibodies in redefining treatment paradigms, with the ultimate goal of improving patient outcomes and advancing toward a potential cure for multiple myeloma.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"80"},"PeriodicalIF":2.2,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145850344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cancer-associated fibroblasts at the crossroads of tumor progression and therapy resistance: from heterogeneity to precision reprogramming.","authors":"Ravi Adusumalli, Rajkiran Reddy Banala","doi":"10.1186/s43046-025-00334-7","DOIUrl":"10.1186/s43046-025-00334-7","url":null,"abstract":"<p><p>Cancer-associated fibroblasts (CAFs) are pivotal regulators of the tumor microenvironment (TME), driving malignancy through extracellular matrix remodeling, paracrine and metabolic crosstalk, angiogenesis, fibrosis, and immune suppression. Emerging single-cell and spatial multi-omics have revealed CAF heterogeneity and plasticity, with subtypes such as myofibroblastic, inflammatory, antigen-presenting, and metabolic CAFs exerting context-dependent functions that can either promote or restrain tumor growth. This duality cautions against indiscriminate stromal ablation and highlights the need for precision strategies. CAFs also mediate resistance to chemotherapy, radiotherapy, targeted agents, and immunotherapy by creating physical and biochemical barriers and fostering immune exclusion. Therapeutic approaches span depletion strategies, pathway inhibitors, and stromal reprogramming using vitamin D receptor agonists, retinoids, and epigenetic modulators, often in combination with immunotherapies. However, CAF plasticity and the lack of exclusive markers remain major challenges. This review positions CAFs as dynamic regulators of cancer hallmarks and argues for a paradigm shift toward precision stromal oncology, where the trajectory from CAF depletion to CAF reprogramming and CAF-guided combinatorial therapies reshapes cancer treatment itself.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"81"},"PeriodicalIF":2.2,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145804886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mustafa Selim, Hanafy Hafez, Abeer M Elsayed, Mohamed Shalaby, Abdalwahab R Abdalwahab, Soad A Eltokhy, Mohamed Fawzy
{"title":"Lessons learned from different prognostic factors analysis in intermediate-risk neuroblastoma: ten years' experience at a tertiary center.","authors":"Mustafa Selim, Hanafy Hafez, Abeer M Elsayed, Mohamed Shalaby, Abdalwahab R Abdalwahab, Soad A Eltokhy, Mohamed Fawzy","doi":"10.1186/s43046-025-00335-6","DOIUrl":"10.1186/s43046-025-00335-6","url":null,"abstract":"<p><strong>Background: </strong>Intermediate-risk (IR) neuroblastoma represents a biologically and clinically diverse group of tumors. This study evaluates the feasibility of surgical excision and identifies prognostic factors that influence survival in IR-neuroblastoma patients, particularly those with suboptimal responses to induction chemotherapy.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 50 pediatric patients diagnosed with IR-neuroblastoma at a tertiary cancer center between 2007 and 2016. Treatment responses, surgical outcomes, and survival data were assessed. Prognostic variables were evaluated using univariable and multivariable models.</p><p><strong>Results: </strong>After four cycles of induction chemotherapy, 26% of patients showed an objective response, increasing to 62% by treatment completion. Surgical resection was performed in 70% of patients, with a higher proportion among non-responders. Initial response to induction chemotherapy was a significant independent predictor of surgical feasibility (p = 0.022) and final disease status (p = 0.026). Five-year overall survival (OS) was 84%, and event-free survival (EFS) was 72%. Surgical resection significantly improved end-of-treatment disease status in slow-responder patients but did not independently affect OS or EFS.</p><p><strong>Conclusion: </strong>Moderate-intensity chemotherapy with or without surgery provides acceptable survival outcomes in IR-neuroblastoma. An early favorable response to induction therapy may justify avoiding surgery, while surgical resection remains critical for slow-responder patients.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"79"},"PeriodicalIF":2.2,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145756239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Henry Sutanto, Alfan Ahkami, Deasy Fetarayani, Pradana Zaky Romadhon
{"title":"A narrative review of therapy-induced senescence in cancer: mechanisms, immune interplay, and therapeutic opportunities.","authors":"Henry Sutanto, Alfan Ahkami, Deasy Fetarayani, Pradana Zaky Romadhon","doi":"10.1186/s43046-025-00333-8","DOIUrl":"10.1186/s43046-025-00333-8","url":null,"abstract":"<p><p>Therapy-induced senescence (TIS) has emerged as a pivotal mechanism in cancer therapy, exerting both tumor-suppressive and tumor-promoting effects. By enforcing stable cell-cycle arrest, TIS prevents proliferation of damaged cancer cells while simultaneously reprogramming the tumor microenvironment (TME) through the senescence-associated secretory phenotype (SASP). This secretome recruits and activates innate and adaptive immune effectors, thereby enhancing immune clearance and sensitizing tumors to immunotherapies such as immune checkpoint inhibitors. However, the chronic persistence of senescent cells and sustained SASP can paradoxically foster immune suppression, angiogenesis, epithelial–mesenchymal transition, and tumor relapse. Preclinical data demonstrate that combining senescence-inducing therapies with immunotherapies produces synergistic effects, particularly when paired with senolytic agents to eliminate residual senescent cells. Early clinical trials, especially those integrating CDK4/6 inhibitors with PD-1/PD-L1 blockade, highlight promising translational opportunities but also underscore critical challenges, including therapy sequencing, SASP heterogeneity, and T-cell suppression. Biomarker development remains essential to monitor senescence dynamics and immune modulation in real time. This review synthesizes mechanistic insights into TIS, its immunological interplay, and emerging therapeutic strategies, advocating for a rational “induce–prime–purge” framework. Leveraging TIS in combination with immunotherapies and senolytics holds the potential to transform refractory tumors into immune-responsive states while minimizing risks of relapse.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"78"},"PeriodicalIF":2.2,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145701411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prognostic value of tumor budding in muscle-invasive urothelial carcinoma of the bladder.","authors":"Ahlem Bdioui, Asma Mahmoudi, Zaineb Lajmi, Maroua Krifa, Syrine Moussa, Oussema Belkacem, Mariem Alaya, Sarra Mestiri, Sihem Hmissa, Nabiha Missaoui","doi":"10.1186/s43046-025-00332-9","DOIUrl":"10.1186/s43046-025-00332-9","url":null,"abstract":"<p><p>BACKGROUND: Bladder cancer is a common malignancy of the urogenital tract worldwide. Almost 20–30% of new cases are muscle-invasive, a complex pathology with significant clinical and biological variability. Despite treatment advances, predicting disease progression remains challenging due to the limitations of traditional prognostic factors. Identifying new markers, such as tumor budding (TB), could offer a promising breakthrough. The aim of this study was to evaluate TB in muscle-invasive urothelial carcinoma (UC) of the bladder and assess its clinicopathological and prognostic significance. METHODS: We conducted a cross-sectional analytical study of 84 cases of muscle-invasive UC of the bladder. TB was assessed based on the 2016 International Tumor Budding Consensus Conference guidelines and correlated with clinicopathological features and patient survival. RESULTS: The study included 77 men and 7 women, with a mean age of 68.13 ± 9.41 years. Histologically, ulcerative proliferative and infiltrative features were most common (58%), and high-grade tumors accounted for 92.9% of cases. Tumors were mainly classified as pT4a (40.5%), with lymph node metastasis observed in 34.3%. The mean overall survival was 23.07 ± 1.9 months. TB was present in 41.7% of cases, with Bd1 in 9.5%, Bd2 in 16.7%, and Bd3 in 15.5% of UCs. Significant correlations were found between TB and the pattern of the invasive front (p = 0.002), presence of carcinoma in situ component (p = 0.024), vascular emboli (p = 0.020), lymphatic emboli (p = 0.044), perineural invasion (p = 0.012), and parietal wall infiltration (p = 0.006). CONCLUSION: These findings suggest that TB serves as an independent histoprognostic predictor of the aggressiveness of muscle-invasive UC, warranting its inclusion in pathology reports and treatment protocols. However, to further validate these findings, large-scale prospective studies with standardized methods for evaluating TB are required. </p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"76"},"PeriodicalIF":2.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case-control study investigating the impact of gradient pressure therapy on chemotherapy-induced peripheral neuropathy symptoms and daily activities in paclitaxel-treated patients.","authors":"Dongxue Guo, Fangfei Zhao, JiWei Hu, JingHua Zhang, Aijun Du, Lizhi Zhou","doi":"10.1186/s43046-025-00331-w","DOIUrl":"10.1186/s43046-025-00331-w","url":null,"abstract":"<p><strong>Purpose: </strong>Paclitaxel chemotherapy is known to induce peripheral neuropathy, significantly impacting patients' daily activities. Effective interventions to alleviate these symptoms are crucial for improving patient quality of life. The objective was to investigate the effects of gradient pressure therapy on symptoms of paclitaxel-induced peripheral neuropathy and daily activities.</p><p><strong>Methods: </strong>Eighty patients with breast cancer receiving a 125-mg/m<sup>2</sup> paclitaxel chemotherapy regimen at a class III hospital in Tangshan from October 2022 to October 2023 were randomly divided into a control group (n = 40) and an intervention group (n = 40). The control group received routine treatment and health guidance, whereas the intervention group received additional II-level hand and foot gradient pressure therapy. Chemotherapy-induced peripheral neuropathy (CIPN) symptoms and activities of daily living (ADL) impact scores were compared after the second, fourth, and sixth chemotherapy cycles and at the 3-month follow-up.</p><p><strong>Results: </strong>No significant differences were found in CIPN symptoms and ADL impact scores between the groups after the second chemotherapy cycle (P > 0.05). However, after the fourth cycle, the intervention group showed significant improvements in nine items: hand numbness, foot numbness, discomfort in fingers/hands or toes/feet, walking, exercise, sleep, sexual activity, chores, and enjoyment of life (P < 0.05). At the sixth cycle and at the 3-month follow-up, additional improvements were noted in cold sensitivity and total scores (P < 0.05).</p><p><strong>Conclusion: </strong>Gradient pressure therapy effectively reduces symptoms of paclitaxel-induced peripheral neuropathy, improving patients' daily activities. This intervention is recommended for clinical promotion and application.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"75"},"PeriodicalIF":2.2,"publicationDate":"2025-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145588043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maged Tharwat Elghannam, Moataz Hassan Hassanien, Yosry Abdel Rahman Ameen, Emad Abdelwahab Turky, Gamal Mohammed ELattar, Ahmed Aly ELRay, Mohammed Darwish ELTalkawy
{"title":"New insights into the effects of microbiome and its derived metabolites on targeted immunotherapy.","authors":"Maged Tharwat Elghannam, Moataz Hassan Hassanien, Yosry Abdel Rahman Ameen, Emad Abdelwahab Turky, Gamal Mohammed ELattar, Ahmed Aly ELRay, Mohammed Darwish ELTalkawy","doi":"10.1186/s43046-025-00330-x","DOIUrl":"10.1186/s43046-025-00330-x","url":null,"abstract":"<p><p>The significance of gut bacteria and their byproducts is gaining greater recognition, especially in the realm of immunotherapy. An imbalance in gut bacteria or their byproducts is intricately linked to the onset, progression, and treatment of cancer. Metabolites derived from gut microbiota, including short-chain fatty acids (SCFAs), secondary bile acids (SBAs), indole derivatives, and trimethylamine oxide (TMAO), engage with cellular targets to initiate intracellular signaling pathways. These signals are conveyed to the cell, influencing its growth. Targeted therapies encompass a complex and ever-evolving area that is crucial in cancer management. Nonetheless, it is vital to recognize that targeted therapy encounters a multitude of challenges. Factors influencing the success of targeted therapy include drug resistance resulting from prolonged use, side effects, and variations in genetic mutations, tumor diversity, and the complex nature of the tumor microenvironment. Recently, we have deepened our understanding of the relationship between the gut microbiome and anticancer targeted therapies. This is one face of the molecular pathologic epidemiology. This prompts us to investigate promising treatment strategies linked to these gut bacteria and their metabolites, thereby unlocking new possibilities for targeted anticancer therapies.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"74"},"PeriodicalIF":2.2,"publicationDate":"2025-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Charlène G S Soro, Sara Benchikh, Adil El Hamouchi, Imane Morjane, Rachid Saile, Halima Lebrazi, Sanaa Nassereddine
{"title":"The molecular management of classic myeloproliferative neoplasm.","authors":"Charlène G S Soro, Sara Benchikh, Adil El Hamouchi, Imane Morjane, Rachid Saile, Halima Lebrazi, Sanaa Nassereddine","doi":"10.1186/s43046-025-00325-8","DOIUrl":"10.1186/s43046-025-00325-8","url":null,"abstract":"<p><strong>Background: </strong>Whole-genome sequencing has enabled the development of a wide range of analytical tools to search for abnormalities associated with tumors. As classic myeloproliferative neoplasms (MPNs) are associated with genomic alterations in hematopoietic stem cells, the World Health Organization (WHO) recommendations include since 2008 molecular investigations as an important part of the diagnosis and management of these pathologies. Recent advances in sequencing technologies, such as next-generation sequencing (NGS), have enhanced the analysis platforms. However, epidemiological information on MPNs is limited, especially in low/middle-income countries.</p><p><strong>Aim: </strong>This literature review provides a state-of-the-art on the classification of MPNs and a comprehensive examination of contemporary analytical techniques, while highlighting the advantages and drawbacks of each method.</p><p><strong>Methods: </strong>The scientific literature for the synthesis of this article was obtained by searching the PubMed and Science Direct databases, and the tables were generated using Excel 2016 software.</p><p><strong>Results: </strong>Driver mutations in MPNs can be detected by genotyping or sequencing. Genotyping techniques present an increased risk of false negatives because of their low sensitivity, whereas sequencing techniques are more sensitive but can present specificity or time-consuming disadvantages.</p><p><strong>Conclusion: </strong>Although a large number of applications favor NGS, it is essential to consider the cost-effectiveness of these technologies to meet the needs of laboratories in low/middle-income regions. Alternative techniques such as real-time polymerase chain reaction (qPCR), immunohistochemistry (CAL2IHC), and liquid chromatography (dHPLC) should be explored and considered as sustainable options.</p>","PeriodicalId":17301,"journal":{"name":"Journal of the Egyptian National Cancer Institute","volume":"37 1","pages":"77"},"PeriodicalIF":2.2,"publicationDate":"2025-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145482429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}