Pharmacogenomics & Personalized Medicine最新文献

{"title":"Ulcerative Colitis: Advances in Pathogenesis, Biomarkers, and Therapeutic Strategies.","authors":"Siyuan Bu, Xiaozhen Cheng, Meng Chen, Yongduo Yu","doi":"10.2147/PGPM.S536459","DOIUrl":"10.2147/PGPM.S536459","url":null,"abstract":"<p><p>Ulcerative colitis represents an inflammatory bowel disease with multiple contributing factors, marked by persistent inflammation of the colonic mucosa, which can lead to a reduced life expectancy and an elevated likelihood of requiring colectomy as well as developing colorectal cancer. Despite impacting roughly 5 million individuals worldwide, the intricate mechanisms underlying ulcerative colitis are still inadequately defined, hindering the development of effective treatments. Extra-intestinal complications, including enteropathic arthritis, are also addressed in the context of disease burden and management. This review explores the multifaceted pathogenesis of ulcerative colitis, emphasizing critical factors such as abnormalities in the epithelial barrier, irregular immune responses, the release of inflammatory mediators, and alterations in gut microbiota composition. We also underscore recent advancements in diagnostic biomarkers that improve the accuracy of disease detection and monitoring. Conventional medicinal strategies are reviewed alongside the emergence of biological therapies, notably those that target tumor necrosis factor (TNF), interleukins, and integrins, which have significantly altered management approaches. Established therapies (eg, 5-aminosalicylic acid, corticosteroids) and emerging agents (eg, JAK inhibitors, S1P modulators) are clearly delineated. Combination strategies-such as dual biologic regimens or JAK inhibitors combined with anti-integrin agents-are also discussed in dedicated subsections. We discuss novel therapies that utilize small molecule targeting, particularly those that inhibit Janus kinase (JAK) and modulate sphingosine-1-phosphate (S1P) receptors, presenting promising avenues for treatment. Additionally, fecal microbiota transplantation (FMT) is evaluated as a therapeutic option, as it shows promise in restoring microbial balance. Collectively, these advances underscore the pivotal roles of immune dysregulation, biologic therapies, and microbiota modulation in reshaping precision management of ulcerative colitis. This synthesis of current knowledge underscores the necessity for continued research to refine therapeutic strategies and improve patient outcomes in ulcerative colitis.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"219-238"},"PeriodicalIF":1.8,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145042260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between ABCB1 Gene Polymorphism with Hyperglycemia and MACE in Patients Undergoing Clopidogrel Treatment After PCI.","authors":"Bo Zhou, Chuanshen Shi, Qike Xu, Yujia Wei, ShuFang Zhang, Xia Wang, Xiangyang An","doi":"10.2147/PGPM.S529276","DOIUrl":"10.2147/PGPM.S529276","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the effect of <i>ABCB1</i> C3435T gene polymorphism with hyperglycemia on the risk of major adverse cardiovascular events (MACE) in patients treated with clopidogrel after percutaneous coronary intervention (PCI).</p><p><strong>Patients and methods: </strong>A total of 117 patients were studied, of which 52 developed MACE. We used fluorescence in situ hybridization to detect the genotype of the <i>CYP2C19</i> and <i>ABCB1</i> C3435T loci. Baseline characteristics, fasting blood glucose, and clinical outcomes were collected. Logistic regression was used to analyze factors influencing MACE in PCI patients treated with clopidogrel.</p><p><strong>Results: </strong>There were significant differences between normal and MACE groups in gender, age, history of diabetes mellitus, history of alcohol consumption, fasting blood glucose, <i>ABCB1</i> (CC) with normoglycemia, and <i>ABCB1</i> (CT/TT) combined with hyperglycemia (<i>P</i> < 0.05). <i>ABCB1</i> C3435T genotype (<i>P</i>= 0.024, OR = 5.584, 95% CI 1.258-24.780), age (<i>P</i>= 0.014, OR = 1.073, 95% CI 1.014-1.135), History of hypertension (<i>P</i>= 0.020, OR = 3.144, 95% CI 1.200-8.238) and History of diabetes mellitus (<i>P</i>= 0.030, OR = 3.731, 95% CI 1.135-12.270) were independent MACE risk factors. In patients <75 years, history of hypertension (<i>P</i>= 0.021, OR = 3.151, 95% CI 1.189-8.350) was a risk factor, while the <i>ABCB1</i> (CC) with normoglycaemia (<i>P</i>= 0.023, OR = 0.147, 95% CI 0.028-0.767) was a protective factor.</p><p><strong>Conclusion: </strong>The <i>ABCB1</i> C3435T genotype is an independent risk factor for MACE after PCI with clopidogrel therapy. <i>ABCB1</i> CC combined normoglycemia may protect against MACE in patients <75 years.</p><p><strong>Trial registration: </strong>Registration number: ChiCTR2400082012, Reg Date: 2024-03-19.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"209-217"},"PeriodicalIF":1.8,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12396218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data.","authors":"Nina L Wittwer, Christoph R Meier, Carola A Huber, Julie D Moser, Henriette E Meyer Zu Schwabedissen, Samuel S Allemann, Cornelia Schneider","doi":"10.2147/PGPM.S527556","DOIUrl":"10.2147/PGPM.S527556","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to determine the prevalence of interactions between PGx drugs metabolized by CYP2C9, CYP2C19, and CYP2D6 and drugs that act as inhibitors or inducers of those enzymes in the Swiss population.</p><p><strong>Patients and methods: </strong>We defined concomitant use of PGx drugs and inhibitors/inducers as instances where a claim of a PGx drug and a claim of an inducer or inhibitor concerning the same enzyme were made within a specified temporal window, either ± 5 days or ± 30 days. We assessed concomitant drug use between 2017 and 2021, using claims data from a Swiss insurance company (Helsana).</p><p><strong>Results: </strong>Out of 894,748 individuals continuously insured, between 17.4% (± 5-days window) and 24.8% (± 30-days window) were exposed to potentially interacting drug pairs, with 1.5% to 2.2% being exposed to potentially strong interacting drug pairs. Individuals exposed to potentially interacting drugs were more frequently female, older and took a greater number of drugs than the general population. The majority of potential interactions were associated with CYP2D6 or CYP2C19.</p><p><strong>Conclusion: </strong>In light of the high prevalence of the simultaneous use of PGx drugs with inhibitor and inducer drugs, it is imperative to consider non-genetic factors, such as drug-induced phenoconversions, when interpreting PGx test results.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"197-208"},"PeriodicalIF":1.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual EGFR L858R and KRAS G12A Mutations in Lung Adenocarcinoma: A Rare Case Report and Literature Review.","authors":"Gang Wei, Jun Tang, Huaiwen Wang, Dongdong Zhang","doi":"10.2147/PGPM.S531038","DOIUrl":"https://doi.org/10.2147/PGPM.S531038","url":null,"abstract":"<p><strong>Background: </strong>KRAS mutations are typically mutually exclusive in non-small cell lung cancer (NSCLC), with the G12C mutation being the most common subtype. The coexistence of KRAS and EGFR mutations is exceedingly rare and is typically emerges as a secondary event following acquired resistance to EGFR-targeted therapies. We presented a case of a newly diagnosed NSCLC patient harboring concurrent EGFR L858R and KRAS G12A mutations.</p><p><strong>Case presentation: </strong>A 64-year-old male with a 30-pack-year smoking history presented with a 3-month history of progressive shortness of breath and chest tightness. Contrast-enhanced chest CT revealed a 5 cm spiculated mass in the right upper lobe, abutting the mediastinum, along with bronchial obstruction, right middle lobe atelectasis, and pleural effusion. A CT-guided transthoracic needle biopsy confirmed lung adenocarcinoma. Next-generation sequencing (NGS) identified a c.2573T>G (p.L858R) mutation in exon 21 of the EGFR gene and a c.35G>C (p.G12A) mutation in exon 2 of the KRAS gene. The patient started first-line therapy with osimertinib combined with pemetrexed/nedaplatin, resulting in a transient partial response, significant resolution of pleural effusion, and partial regression of the primary tumor. However, disease progression occurred within 6 months, marked by the appearance of a new cerebellar metastasis, confirmed by MRI. The patient continued osimertinib maintenance therapy and underwent stereotactic radiotherapy for the brain lesion. Despite initial stabilization, pulmonary progression was observed 11 months after the start of treatment. Due to declining performance status and personal preferences, the patient declined further treatment and was lost to follow-up.</p><p><strong>Conclusion: </strong>We report a rare case of treatment-naïve lung adenocarcinoma harboring concurrent KRAS G12A and EGFR L858R mutations. The patient achieved only transient disease control following treatment with a third-generation EGFR TKI combined with chemoradiotherapy. Further research to explore optimal therapeutic strategies for such complex molecular profiles is needed.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"189-196"},"PeriodicalIF":1.8,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12380001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in the Clinical Use of Clopidogrel: A Review of Individualized Treatment Strategies and Monitoring Optimization Based on Genetic Polymorphisms.","authors":"Nina Dou, Haiyan Ma, Ping Zhang, Ruiyang Lu, Jiarong Hang, Jingyi Sun","doi":"10.2147/PGPM.S519342","DOIUrl":"10.2147/PGPM.S519342","url":null,"abstract":"<p><p>This paper systematically reviews recent advances in clopidogrel clinical applications to optimize therapeutic precision and medication safety. Using a literature review methodology, we elucidate clopidogrel's pharmacokinetic properties and pharmacodynamic mechanisms, while evaluating its clinical efficacy and adverse reactions in disease management. Recent studies have emphasized the key role of genetic polymorphisms in regulating the efficacy and safety of clopidogrel. Polymorphisms in the <i>CYP2C19</i> gene have a significant effect on the metabolism of clopidogrel, with loss-of-function (LOF) alleles (<i>*2, *3</i>) reducing the production of active metabolites, leading to elevated platelet reactivity and increasing the risk of major adverse cardiovascular events (MACE), particularly in the Asian populations, where the prevalence of LoF alleles is as high as 29-35%. In contrast, the gain-of-function allele <i>CYP2C19*17</i> results in a reduced risk of cardiovascular events but increases the risk of bleeding. This article summarizes the latest research progress and monitoring methods of clopidogrel, and suggests that clinics should combine genotyping and platelet function testing with monitoring of blood levels to optimize treatment and provide data reference for clinical administration of clopidogrel.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"163-177"},"PeriodicalIF":1.8,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144638771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Genetic Analysis of a <i>DMD</i> Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing.","authors":"Qianwen Chen, Wenjuan Zhang, Lingfeng Zha","doi":"10.2147/PGPM.S514145","DOIUrl":"10.2147/PGPM.S514145","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disease that is characterized by progressive proximal muscle weakness and pseudohypertrophy. Currently, genetic diagnosis of DMD relies largely on multiplex ligation-dependent probe analysis (MLPA) and Sanger sequencing to identify pathogenic mutations. This study aimed to confirm the genetic etiology of a boy presenting with clinical manifestations that are highly indicative of DMD. A 14-year-old boy with heart failure and extreme muscle weakness along with his family members was recruited for this study. DNA from each participant was isolated from peripheral blood samples. We used MLPA to detect the deletion or duplication mutations of the <i>DMD</i> gene and Sanger sequencing to verify the missing region of the exon in the proband. Furthermore, the functional role of the mutation was assessed using bioinformatics. We found that the proband carried a small deletion in the <i>DMD</i> gene (c.6808_6811delTTAA). The deletion of those four nucleotides resulted in a frameshift mutation and a premature nonsense codon, which resulted in a truncated dystrophin that lost its most critical function and underwent post-transcriptional degradation. Our study demonstrated that MLPA, in combination with Sanger sequencing, is a reliable and practical approach for the genetic diagnosis of DMD, which is a significant step towards developing personalized therapy.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"153-162"},"PeriodicalIF":1.8,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12182250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144477976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations Between <i>FTO</i> Polymorphisms and Neuroblastoma Risk in Chinese Children.","authors":"Peiqi Liu, Yue Li, Yong Li, Li Li, Jiwen Cheng, Suhong Li, Jiao Zhang, Haixia Zhou, Yunlong Huo, Zhonghua Yang, Jing He, Ran Zhang","doi":"10.2147/PGPM.S488314","DOIUrl":"10.2147/PGPM.S488314","url":null,"abstract":"<p><strong>Background: </strong>Neuroblastoma (NB) is a malignancy of neural crest cells that primarily affects children. Single nucleotide polymorphisms (SNPs) in the fat mass and obesity-associated (<i>FTO</i>) gene, a well-conserved gene, have been implicated in tumorigenesis. However, there is currently insufficient evidence to establish the relationship between <i>FTO</i> gene SNPs and susceptibility to NB.</p><p><strong>Methods: </strong>A TaqMan assay was conducted to examine the potential associations between <i>FTO</i> gene SNPs and the risk of NB in a cohort of 898 patients and 1734 controls from eight medical centers in China. Additionally, stratification analysis was performed to evaluate the relationship between the selected <i>FTO</i> SNPs and the susceptibility to NB among various subgroups.</p><p><strong>Results: </strong>No significant association was found between the selected <i>FTO</i> polymorphisms and the risk of NB in either the single locus analysis or the combined analysis.</p><p><strong>Conclusion: </strong>However, our study reveals that individuals with retroperitoneal NB and those with stage III+IV NB are more prone to exhibit <i>FTO</i> SNPs compared to other patients. Moreover, participants with the <i>FTO</i> rs8047395 GG genotype displayed a higher likelihood of developing stage III+IV NB in comparison to other participants.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"143-151"},"PeriodicalIF":1.8,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quercetin Inhibits Gastric Cancer Progression via FAM198B/MAPK Pathway Modulation.","authors":"Hongyang Deng, Qi Xiao, Xiaodong Xu, Lingyi Zhang, Youcheng Zhang","doi":"10.2147/PGPM.S511324","DOIUrl":"10.2147/PGPM.S511324","url":null,"abstract":"<p><strong>Background: </strong>The family with the sequence similarity 198 member B (FAM198B) has been found to contribute to the progression of gastric cancer (GC). However, the role and molecular mechanism of FAM198B in GC remains poorly understood. This work found a link between FAM198B and quercetin, and the regulatory effect of FAM198B on the MAPK pathway of GC.</p><p><strong>Methods: </strong>FAM198B expression was identified through multiple public data sets and verified in clinical tissue samples. The associations between FAM198B and the prognosis of patients with GC were analyzed via the Kaplan‒Meier plotter and Cox regression analysis. Gene set enrichment analysis, coexpressed genes, and RNA sequencing were used to explore the related functions and signaling pathways of FAM198B in GC. In vitro assays assessed the effects of FAM198B knockdown on GC cells. FAM198B was found as a quercetin target by the HERB database and in vitro assays.</p><p><strong>Results: </strong>FAM198B was highly expressed in tissues from GC patients (<i>p</i><0.001) and was positively associated with poor prognosis (<i>p</i><0.001) and immune cell infiltration in GC patients. FAM198B knockdown inhibited the proliferation, migration, invasion, and epithelial-mesenchymal transition (EMT) of GC cells (all <i>p</i><0.05). In addition, FAM198B knockdown decreased the phosphorylation of p-Erk1/2 and p-p38 in GC cells (all <i>p</i><0.01). Quercetin inhibited FAM198B expression and the phosphorylation of p-Erk1/2 and p-p38 in GC cells (all <i>p</i><0.05).</p><p><strong>Conclusion: </strong>Quercetin inhibits the proliferation, migration, invasion, and EMT of GC cells by inhibiting the FAM198B/MAPK signaling pathway. These discoveries lay the groundwork for developing the treatment of GC by quercetin and targeting FAM198B. In the future, more preclinical and clinical studies are needed to confirm the efficacy and safety of quercetin and target FAM198B in GC.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"115-141"},"PeriodicalIF":1.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144103199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of <i>CYP2C19</i> Variants in Patients with Cardiovascular Disease from the Yunnan-Guizhou Plateau in Southwestern China.","authors":"Xiu-Ping Li, Jun-Ling Wang, San-Xi Lei, Bo-Yu Chen, Xiang Ma, Fei He, Chao-Fu Yue, Hong-Xia Liu, Jian-Peng Hu, Qian Xiong, Ting Ji, Zheng-Fu Zhang, Yong Sun, Hong-Wei Li","doi":"10.2147/PGPM.S509794","DOIUrl":"https://doi.org/10.2147/PGPM.S509794","url":null,"abstract":"<p><strong>Background and purpose: </strong>The CYP2C19 enzyme is essential for activation of the antiplatelet drug clopidogrel. Genetic variations in CYP2C19 are known to influence individual drug responses. Here, differences in <i>CYP2C19</i> alleles, genotypes, and phenotypes in patients with cardiovascular disease from the Yunnan-Guizhou Plateau were systematically surveyed to provide a reference for appropriate treatment approaches.</p><p><strong>Methods: </strong>The <i>CYP2C19*2, *3</i>, and <i>*17</i> variants were determined by RT-qPCR in 1934 patients with cardiovascular disease from 10 different areas of the Yunnan-Guizhou Plateau. Clinical data were analyzed using χ² tests.</p><p><strong>Results: </strong>The proportions of the <i>CYP2C19*1, *2, *3</i>, and <i>*17</i> alleles in the study cohort were 64.94, 29.81, 4.42, and 0.83%, respectively, while the frequencies of nine observed genotypes (<i>*1/*17, *1/*1, *2/*17, *3/*17, *1/*2, *1/*3, *2/*2, *2/*3, *3/*3</i>) were 1.03, 42.09, 0.57, 0.05, 38.73, 5.95, 8.89, 2.53, and 0.16%, respectively. Four metabolic phenotypes were found in the population, namely, rapid (1.03%), normal (42.09%), intermediate (45.29%), and poor (11.58%) metabolizers. Regional differences in allele and phenotype distribution were observed.</p><p><strong>Conclusion: </strong>These results represent the first comprehensive profile of <i>CYP2C19</i> variants in patients with cardiovascular disease from the Yunnan-Guizhou Plateau, offering a valuable genetic reference for the selection of optimal treatment strategies.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"105-113"},"PeriodicalIF":1.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathological and Molecular Features of Primary Inflammatory Myofibroblastic Tumor in Nasal Cavity and Paranasal Sinuses.","authors":"Yihua Zhao, Donglin Ma, Hongfei Wan, Yingshi Piao","doi":"10.2147/PGPM.S508156","DOIUrl":"https://doi.org/10.2147/PGPM.S508156","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory myofibroblastic tumor (IMT) in the nasal cavity and sinuses is rare and has special clinical and pathological characteristics with poor prognosis. This study aimed to investigate the clinicopathological and molecular features of primary IMT in the nasal cavity and paranasal sinuses.</p><p><strong>Methods: </strong>The clinical features, histopathological findings, immunohistochemical findings and results of molecular genetic examination were retrospectively analyzed in 25 patients who were diagnosed with IMT in the nasal cavity and paranasal sinuses.</p><p><strong>Results: </strong>Tumor tissues were mainly composed of obese spindle-shaped myofibroblasts, fibroblasts, and chronic inflammatory cells. The inflammatory cells included plasma cells, lymphocytes, eosinophils, foam histiocytes and multinuclear giant cells. Immunohistochemical staining showed the tumor was positive to anaplastic lymphoma kinase (ALK) in two patients. <i>ALK</i> fusion mutation was detected by PCR in only 1 patient.</p><p><strong>Conclusion: </strong>Nasal and paranasal sinus IMTs are rare, exhibit histopathological diversity with low specificity, and require careful differentiation from inflammatory and autoimmune disorders. These tumors demonstrate a worse prognosis compared to IMTs in other anatomic locations, along with a significantly lower rate of ALK gene rearrangement. Identifying molecular target alterations can enhance precision diagnosis and targeted therapeutic strategies.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"95-104"},"PeriodicalIF":1.8,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12047225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}