Pharmacogenomics & Personalized Medicine最新文献

{"title":"Impact of <i>TREM1</i> Variants on the Risk and Prognosis of Glioma in the Chinese Han Population.","authors":"Mingjun Hu,&nbsp;Jie Wei,&nbsp;Jie Hao,&nbsp;Tianbo Jin,&nbsp;Bin Li","doi":"10.2147/PGPM.S403870","DOIUrl":"https://doi.org/10.2147/PGPM.S403870","url":null,"abstract":"<p><strong>Background: </strong>Glioma is the main pathological subtype of brain tumors with high mortality.</p><p><strong>Objective: </strong>This study aimed to elucidate the correlation between <i>TREM1</i> variants and glioma risk in the Chinese Han population.</p><p><strong>Methods: </strong>Genotyping of six variants of <i>TREM1</i> was completed by Agena MassARRAY platform in 1061 subjects (503 controls and 558 glioma patients). The relationship between <i>TREM1</i> polymorphisms and glioma risk was calculated using the logistic regression model, with odds ratio (OR) and 95% confidence intervals (CIs). A multifactor dimensionality reduction (MDR) method was performed to assess SNP-SNP interactions to predict glioma risk.</p><p><strong>Results: </strong>In this research, overall analysis illustrated an association between <i>TREM1</i> rs9369269 and an increased risk of glioma. Rs9369269 was also related to the risk of glioma in patients aged ≤40 years and females. Subjects with rs9369269 AC genotype were likely to obtain glioma compared to people with CC genotype (patients with astroglioma vs healthy people). Compared to TT genotype carriers, carriers with AT genotype of rs1351835 were significantly associated with overall survival (OS).</p><p><strong>Conclusion: </strong>Taken together, the study identified the association between <i>TREM1</i> variants and glioma risk and <i>TREM1</i> variants were significantly associated with the prognosis of glioma. In the future, larger samples are needed to verify the results.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"707-715"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cb/1d/pgpm-16-707.PMC10327902.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9808389","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":"Hsa_circ_0003489 Drives PTX Resistance of Human NSCLC Cells Through Modulating miR-98-5p/IGF2.","authors":"Shaofeng Xia,&nbsp;Chenliang Wang","doi":"10.2147/PGPM.S416360","DOIUrl":"https://doi.org/10.2147/PGPM.S416360","url":null,"abstract":"<p><strong>Background: </strong>Circular RNAs (circRNAs) demonstrated critical roles within developing tumors and treatment resistance in an increasing body of research. The aim was to look into the functions and processes of hsa_circ_0003489 in the non-small cell lung cancer (NSCLC) paclitaxel (PTX) resistance.</p><p><strong>Methods: </strong>NSCLC cell-based cultures including A549 and H460 were employed for such an investigation. hsa_circ_0003489, miR-98-5p, and insulin-like growth factor 2 (IGF2) expression-profiles were evaluated with a quantitative real-time polymerase chain reaction (RT-qPCR). The PTX resistance was determined using MTT assay, and the ELISA test measured IGF2 expression. Facilitating corroboration for miR-98-5p relation and hsa_circ_0003489 or IGF2, a dual-luciferase reporter method was applied.</p><p><strong>Results: </strong>The hsa_circ_0003489 level was raised in cells and tissues from PTX-resistant (PR) NSCLC. In PR NSCLC cells, hsa_circ_0003489 knockdown reduced PTX resistance. For the purpose of the mechanism study, hsa_circ_0003489 knockdown substantially reduced IGF2 expression via miR-98-5p sponging, improving PTX sensitivity in PR NSCLC.</p><p><strong>Conclusion: </strong>Through miR-98-5p/IGF2 axis control, hsa_circ_0003489 knockdown helped NSCLC overcome PTX resistance, suggesting a potential circRNA-targeted therapy for the disease.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"805-815"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/88/de/pgpm-16-805.PMC10488782.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10218680","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":"Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening.","authors":"Xiaoxia Wang,&nbsp;Haining Fang","doi":"10.2147/PGPM.S402760","DOIUrl":"https://doi.org/10.2147/PGPM.S402760","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical and gene mutation characteristics of fatty acid oxidative metabolic diseases found in neonatal screening.</p><p><strong>Methods: </strong>A retrospective analysis was performed on 29,948 neonatal blood tandem mass spectrometry screening samples from January 2018 to December 2021 in our neonatal screening centre. For screening positive, recall review is still suspected of fatty acid oxidation metabolic disorders in children as soon as possible to improve the genetic metabolic disease-related gene detection package to confirm the diagnosis. All diagnosed children were followed up to the deadline.</p><p><strong>Results: </strong>Among 29,948 neonates screened by tandem mass spectrometry, 14 cases of primary carnitine deficiency, six cases of short-chain acyl coenzyme A dehydrogenase deficiency, two cases of carnitine palmitoyltransferase-I deficiency and one case of multiple acyl coenzyme A dehydrogenase deficiency were recalled. Except for two cases of multiple acyl coenzyme A dehydrogenase deficiency that exhibited [manifestations], the other 21 cases were diagnosed pre-symptomatically. Eight mutations of <i>SLC22A</i>5 gene were detected, including c.51C>G, c.403G>A, c.506G>A, c.1400C>G, c.1085C>T, c.706C>T, c.1540G>C and c.338G>A. Compound heterozygous mutation of <i>CPT1A</i> gene c.2201T>C, c.1318G>A, c.2246G>A, c.2125G>A and ETFA gene c.365G>A and c.699_701delGTT were detected, and new mutation sites were found.</p><p><strong>Conclusion: </strong>Neonatal tandem mass spectrometry screening is an effective method for identifying fatty acid oxidative metabolic diseases, but it should be combined with urine gas chromatography-mass spectrometry and gene sequencing technology. Our findings enrich the gene mutation profile of fatty acid oxidative metabolic disease and provide evidence for genetic counselling and prenatal diagnosis in families.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"577-587"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d1/c0/pgpm-16-577.PMC10254624.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9618148","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":"Clinical Characteristics and Novel <i>ZEB2</i> Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome.","authors":"Xiao Han,&nbsp;Qianjuan Zhang,&nbsp;Chengcheng Wang,&nbsp;Bingjuan Han","doi":"10.2147/PGPM.S414161","DOIUrl":"https://doi.org/10.2147/PGPM.S414161","url":null,"abstract":"<p><strong>Purpose: </strong>Mowat-Wilson syndrome (MWS) is an autosomal dominant disease caused by a pathogenic variant of the <i>ZEB2</i> gene. The main clinical manifestations include special facial features, Hirschsprung disease (HSCR), global developmental delay and other congenital malformations. Here, we summarize the clinical characteristics and genetic mutation analysis of three Chinese patients with MWS.</p><p><strong>Patients and methods: </strong>The clinical characteristics of the patients were monitored and the treatment effect was followed up. DNA was extracted from peripheral blood and analyzed by sequencing. Whole exome sequencing was then performed.</p><p><strong>Results: </strong>Three novel <i>ZEB2</i> gene mutations were identified in 3 patients (c.1147_1150dupGAAC, p.Q384Rfs*7, c.1137_1146del TAGTATGTCT, p.S380Nfs *13 and c.2718delT, p.A907Lfs*23). They all had special facial features, intellectual disability, developmental delay, microcephaly, structural brain abnormalities and other symptoms. After long-term regular rehabilitation treatment, the development quotient of each functional area of the patient was slightly improved.</p><p><strong>Conclusion: </strong>Our study expanded the mutation spectrum of ZEB2 and enriched our understanding of the clinical features of MWS. It also shows that long-term standardized treatment is of great significance for the prognosis of patients.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"777-783"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/b6/pgpm-16-777.PMC10460601.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10166636","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":"Genetic Variants of <i>CYP4F2</i> Associated with Ischemic Stroke Susceptibility in the Han Population from Southern China.","authors":"Kang Huang,&nbsp;Tianyi Ma,&nbsp;Qiang Li,&nbsp;Yilei Zhou,&nbsp;Ting Qin,&nbsp;Zanrui Zhong,&nbsp;Shilin Tang,&nbsp;Wei Zhang,&nbsp;Jianghua Zhong,&nbsp;Shijuan Lu","doi":"10.2147/PGPM.S413632","DOIUrl":"https://doi.org/10.2147/PGPM.S413632","url":null,"abstract":"<p><strong>Background: </strong>The pathophysiological mechanism of ischemic stroke is complex. Traditional risk factors cannot fully or only partially explain the occurrence and development of IS. Genetic factors are getting more and more attention. Our study aimed to explore the association between <i>CYP4F2</i> gene polymorphism and susceptibility to IS.</p><p><strong>Methods: </strong>A total of 1322 volunteers were enrolled to perform an association analysis through SNPStats online software. Using FPRP (false-positive report probability) to detect whether the result is a noteworthy finding. The interaction of SNP-SNP in IS risk was assessed by multi-factor dimensionality reduction. Statistical analysis of this study was mainly completed by SPSS 22.0 software.</p><p><strong>Results: </strong>Mutant allele \"A\" (OR = 1.24) and genotype \"AA\" (OR = 1.49) or \"GA\" (OR = 1.26) of <i>CYP4F2-</i>rs2108622 are risk genetic factors for IS. Rs2108622 is significantly associated with an increased risk of IS among subjects who are females, aging >60 years old, with BMI ≥24 kg/m², and smoking or drinking volunteers. <i>CYP4F2</i>-rs3093106 and -rs3093105 are associated with susceptibility to IS among smoking, drinking subjects, or IS patients complicated with hypertension.</p><p><strong>Conclusion: </strong><i>CYP4F2</i>-rs2108622, -rs3093106, and -rs3093105 are associated with an increased risk of IS.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"599-607"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/19/4a/pgpm-16-599.PMC10278860.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9712581","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 <i>HTRA1, GAS6</i> and <i>IFNGR2</i> Gene Polymorphisms and Stroke Susceptibility in the Chinese Han Population.","authors":"Fan Zhang,&nbsp;Hao Peng,&nbsp;Chuanyi Fu,&nbsp;Yidong Deng,&nbsp;Mao Zhang,&nbsp;Wenan Li,&nbsp;Jian Zhong,&nbsp;Qing Zhou,&nbsp;Li Huang,&nbsp;Shuli Xiao,&nbsp;Jiannong Zhao","doi":"10.2147/PGPM.S408911","DOIUrl":"https://doi.org/10.2147/PGPM.S408911","url":null,"abstract":"<p><strong>Background: </strong>Stroke has a high disability rate, and 30% of stroke cases have an unknown cause. Accurate diagnosis and treatment of stroke requires consideration of several rare heritable and non-heritable factors.</p><p><strong>Objective: </strong>This study aimed to evaluate the impacts of three genetic polymorphisms (rs369149111 in <i>HTRA1</i>, rs1803628 in <i>GAS6</i> and rs9808753 in <i>IFNGR2</i>) on stroke susceptibility among the Chinese Han population.</p><p><strong>Methods: </strong>Three single nucleotide polymorphisms (SNPs) from 623 stroke cases and 572 healthy controls were genotyped by the Agena MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression analysis to evaluate the associations of three SNPs with stroke susceptibility. Additionally, SNP-SNP interactions were analyzed by multifactor dimensionality reduction (MDR).</p><p><strong>Results: </strong>As demonstrated by the overall analysis, rs9808753 in <i>IFNGR2</i> (allele: OR = 1.25, 95% CI = 1.06-1.47, <i>p</i> = 0.007; homozygous: OR = 1.59, 95% CI = 1.14-2.23, <i>p</i> = 0.007; dominant: OR = 1.31, 95% CI = 1.02-1.67, <i>p</i> = 0.032; recessive: OR = 1.42, 95% CI = 1.05-1.91, <i>p</i> = 0.022; additive: OR = 1.26, 95% CI = 1.07-1.48, <i>p</i> = 0.007) was associated with an increased susceptibility to stroke. Besides, stratification analysis suggested that rs9808753 was associated with an increased risk of stroke in subgroup aged ≤ 64 years, males and drinkers (<i>p</i> < 0.05). And rs1803628 in <i>GAS6</i> was significantly associated with an increased susceptibility to stroke in non-smokers (<i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>A risk-increasing effect of <i>IFNGR2</i> rs980875 on stroke was detected in this study, which further broadens the understanding of the relationship between genetic polymorphisms and stroke susceptibility.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"717-727"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/58/b7/pgpm-16-717.PMC10335315.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9807182","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":"Genotyping of Patients with Adverse Drug Reaction or Therapy Failure: Database Analysis of a Pharmacogenetics Case Series Study.","authors":"Anna Bollinger,&nbsp;Céline K Stäuble,&nbsp;Chiara Jeiziner,&nbsp;Florine M Wiss,&nbsp;Kurt E Hersberger,&nbsp;Markus L Lampert,&nbsp;Henriette E Meyer Zu Schwabedissen,&nbsp;Samuel S Allemann","doi":"10.2147/PGPM.S415259","DOIUrl":"https://doi.org/10.2147/PGPM.S415259","url":null,"abstract":"<p><strong>Purpose: </strong>Pharmacogenetics (PGx) is an emerging aspect of personalized medicine with the potential to increase efficacy and safety of pharmacotherapy. However, PGx testing is still not routinely integrated into clinical practice. We conducted an observational case series study where PGx information from a commercially available panel test covering 30 genes was integrated into medication reviews. The aim of the study was to identify the drugs that are most frequently object of drug-gene-interactions (DGI) in the study population.</p><p><strong>Patients and methods: </strong>In out-patient and in-patient settings, we recruited 142 patients experiencing adverse drug reaction (ADR) and/or therapy failure (TF). Collected anonymized data from the individual patient was harmonized and transferred to a structured database.</p><p><strong>Results: </strong>The majority of the patients had a main diagnosis of a mental or behavioral disorder (ICD-10: F, 61%), of musculoskeletal system and connective tissue diseases (ICD-10: M, 21%), and of the circulatory system (ICD-10: I, 11%). The number of prescribed medicines reached a median of 7 per person, resulting in a majority of patients with polypharmacy (≥5 prescribed medicines, 65%). In total, 559 suspected DGI were identified in 142 patients. After genetic testing, an association with at least one genetic variation was confirmed for 324 suspected DGI (58%) caused by 64 different drugs and 21 different genes in 141 patients. After 6 months, PGx-based medication adjustments were recorded for 62% of the study population, whereby differences were identified in subgroups.</p><p><strong>Conclusion: </strong>The data analysis from this study provides valuable insights for the main focus of further research in the context of PGx. The results indicate that most of the selected patients in our sample represent suitable target groups for PGx panel testing in clinical practice, notably those taking drugs for mental or behavioral disorder, circulatory diseases, immunological diseases, pain-related diseases, and patients experiencing polypharmacy.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"693-706"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5c/15/pgpm-16-693.PMC10327911.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9808387","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":"A Review of the Pharmacokinetic Characteristics of Immune Checkpoint Inhibitors and Their Clinical Impact Factors.","authors":"Jun-Chen Liu,&nbsp;Hong-Jing Yu","doi":"10.2147/PGPM.S391756","DOIUrl":"https://doi.org/10.2147/PGPM.S391756","url":null,"abstract":"<p><p>Immune checkpoint inhibitors (ICIs) have been shown to be significant in improving the overall survival rate in certain malignancies with poor prognoses. However, only 20-40% of patients achieve long-term benefits, highlighting the relevance of the factors that influence the treatment, which can help clinicians improve their results and guide the development of new immune checkpoint therapies. In this study, the current pharmacokinetic aspects associated with the ICIs and the factors influencing clinical efficacy were characterised, including in terms of drug metabolism, drug clearance, hormonal effects and immunosuppressive effects.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"29-36"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/33/44/pgpm-16-29.PMC9880024.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10591018","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":"Rs11479 in <i>Thymidine Phosphorylase</i> Associated with Prognosis of Patients with Colorectal Cancer Who Received Capecitabine-Based Adjuvant Chemotherapy.","authors":"Xiongjie Jia,&nbsp;Tao Zhang,&nbsp;Junjie Sun,&nbsp;Hengxue Lin,&nbsp;Tianliang Bai,&nbsp;Yating Qiao,&nbsp;Yaxin Li,&nbsp;Gang Li,&nbsp;Guicun Li,&nbsp;Xinyu Peng,&nbsp;Aimin Zhang","doi":"10.2147/PGPM.S397382","DOIUrl":"https://doi.org/10.2147/PGPM.S397382","url":null,"abstract":"<p><strong>Objective: </strong><i>Thymidine Phosphorylase (TYMP)</i> gene was of potential significance in the process of colorectal cancer (CRC) development and played an important role in capecitabine metabolism. This study was to identify the association between <i>TYMP</i> polymorphism and prognosis of postoperative patients with CRC who received capecitabine-based adjuvant chemotherapy.</p><p><strong>Methods: </strong>A total of 218 patients with CRC who were treated with surgical resection and capecitabine-based adjuvant chemotherapy were included in this study retrospectively. Peripheral blood and peripheral blood mononuclear cell (PBMC) specimen of the patients were collected for the genotyping of <i>TYMP</i> polymorphism and <i>TYMP</i> mRNA expression, respectively. Univariate analysis of genotypes and prognosis was carried out by Kaplan-Meier survival analysis, Cox regression analysis was adopted in multivariate analysis. The mRNA expression of <i>TYMP</i> according to genotype status was analyzed using non-parameter test.</p><p><strong>Results: </strong>Prevalence of rs11479 in <i>TYMP</i> among the 218 patients exhibited that minor allele frequency of rs11479 was 0.20 (GG 141 cases, GA 68 cases and AA 9 cases), which was in accordance with Hardy-Weinberg equilibrium (<i>P</i>=0.825). Association analysis suggested that the median disease-free survival (DFS) of patients with GG genotype and GA/AA genotype was 3.1 and 6.1 years, respectively (<i>P</i>=0.004). Furthermore, the median overall survival of patients with GG genotype and GA/AA genotype was 5.0 and 7.0 years, respectively (<i>P</i>=0.033). Multivariate Cox regression analysis exhibited that rs11479 polymorphism was an independent factor for DFS (HR = 1.64, <i>P</i>=0.009). Additionally, of the 65 PBMC specimens, mRNA expression results indicated that patients with GA/AA genotypes conferred significantly higher mRNA expression of <i>TYMP</i> than that of patients with GG genotype (<i>P</i><0.001).</p><p><strong>Conclusion: </strong>Polymorphism rs11479 in <i>TYMP</i> gene might predict the prognosis of patients with CRC who received capecitabine-based adjuvant chemotherapy through mediation of the mRNA expression of <i>TYMP</i>. The conclusion of this study should be validated in prospective clinical trials subsequently.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"277-289"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4f/d2/pgpm-16-277.PMC10072144.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9260035","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":"Acute Myeloid Leukemia Secondary to Chronic Lymphocytic Leukemia After Prolonged Chlorambucil Therapy: A Case Report.","authors":"Yan Wu,&nbsp;Shan Liu,&nbsp;Dongmei Wang,&nbsp;Xinjie Yao","doi":"10.2147/PGPM.S407940","DOIUrl":"https://doi.org/10.2147/PGPM.S407940","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to improve the understanding of acute myeloid leukemia (AML) secondary to chronic lymphocytic leukemia (CLL), and to explore the sequence of occurrence and clonal origin of the two diseases.</p><p><strong>Case report: </strong>We reported a case of a 71-year-old man with a history of CLL. The patient was administrated with chlorambucil for 19 years and was admitted to our hospital due to fever. Then he was subjected with routine blood tests, bone marrow smear examination, flow cytometric immunophenotyping and cytogenetic analysis. A final diagnosis of AML-M2 secondary to CLL with -Y,del(4q),del(5q),-7,add(12p),der(17),der(18),-22,+mar was made. After rejecting the therapy with Azacitidine combined with B-cell lymphoma-2 (Bcl-2) inhibitor, the patient died of pulmonary infection.</p><p><strong>Conclusion: </strong>This case highlights the rare occurrence of AML secondary to CLL after prolonged chlorambucil therapy and the poor prognosis of such cases, underscoring the importance of enhanced assessment of these patients.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"401-405"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/61/7e/pgpm-16-401.PMC10150764.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9416257","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}