Annals of clinical and laboratory science最新文献

{"title":"Evaluation Value of Preoperative Serum Transaminase Ratio Combined with Serum Tumor Markers for Prognosis of Patients with Stage III Colorectal Cancer: A Retrospective Study.","authors":"Xiaodong Li, Zhao Wu, Fei Cheng, Lebin Yuan, Weiyang Xia, Zhigang Li, Zeyu Huang, Shengping Mao, Xing Chen, Wei Shen","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>This study utilized data from two hospitals to investigate the relationship between the preoperative serum alanine aminotransferase to aspartate aminotransferase ratio (LSR) combined with preoperative serum tumor markers (TM) and the prognosis of patients with stage III colorectal cancer (CRC).</p><p><strong>Methods: </strong>An analysis was performed on the clinical data of 211 patients diagnosed with stage III colorectal cancer (CRC), treated surgically at the Department of Gastrointestinal Surgery of the Second Affiliated Hospital of Nanchang University and the General Surgery Department of the First Affiliated Hospital of Nanchang University between January 2016 and December 2016. Laboratory data were also compiled for these patients. The main follow-up indicators were the five-year disease-free survival (DFS) and the five-year overall survival (OS). Survival analysis was carried out using the log-rank test, and Cox regression analysis was applied to ascertain independent prognostic factors for survival. Rank sum tests were utilized to compare categorical variables, with a <i>p</i>-value of less than 0.05 considered statistically significant.</p><p><strong>Result: </strong>Between January 2016 and December 2016, a total of 211 patients were enrolled in the two hospitals, including 113 males and 98 females. Multivariate analysis showed that the independent prognostic factors for five-year disease-free survival of stage III colorectal cancer were LSR (HR: 0.45,95% CI:0.31-0.67, <i>p</i><0.001) and CEA (HR: 2.11,95%CI:1.42-3.13, <i>p</i><0.001). Independent prognostic factors for five-year overall survival of stage III colorectal cancer were LSR (HR:0.48, 95%CI:0.31-0.75, <i>p</i>=0.001) and CA199 (HR:1.73, 95%CI:1.11-2.68, <i>p</i>=0.015). Kaplan-Meier survival analysis showed that LSR combined with TM could evaluate the five-year DFS and five-year OS of stage III colorectal cancer (DFS, <i>p</i><0.001, OS: <i>p</i>=0.002).</p><p><strong>Conclusion: </strong>1. The prognosis of patients with high preoperative LSR and low CEA, CA199 in perioperative period is better than that of other stage III colorectal cancer patients. 2. Perioperative preoperative serum transaminase ratio combined with CEA, CA199 has a certain reference value in the prognosis assessment of stage III colorectal cancer.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"54-63"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanism of Action of microRNA-146a on Lung Cancer Cells through Notch1/Hes-1 Signaling Pathway.","authors":"Hui Xu, Xuan Guo, Ping Xiang, Yang Liu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>We explored the mechanism of action of microRNA-146a in the lung cancer cell line A549 through the Noth1/Hes-1 signal pathway.</p><p><strong>Methods: </strong>A549 cells were divided into a control NT group without transfection, NC group with transfection of miR-146a-NC, and MM group with transfection of miR-146a mimics. We employed qRT-PCR, MTT, Hoechst33258 fluorescence staining, Transwell assay, cell wound scratch assay, and Western blot for detection of the expression of miR-146a and Notch1/Hes-1, cell activity, apoptotic capacity, and invasion and migration abilities.</p><p><strong>Results: </strong>The expression of miR-146a in MM group was the highest, illustrating transfection was successful. The expression of Notch1 and Hes-1 mRNA in MM group was reduced compared to in the NC and NT groups (<i>P</i><0.05). The activity of Notch1 and Hes-1 were reduced by transfection of miR-146a as documented by the double luciferase reporter gene assay (<i>P</i><0.05). The cellular activity in the MM group was lowest after the 48 hours of culture. There was a significant difference compared with the other two groups (<i>P</i><0.05). Cell activity in the three groups after the 96 hours of culture was higher than after the 72 hours and 48 hours of culture equally (<i>P</i><0.05).</p><p><strong>Conclusion: </strong>The low expression of miR-146a could have tumor-prompting action on human NSCLC cells. Up-regulation of the expression of miR-146a restrained biological behaviors such as cell apoptosis and migration through targeted regulation involving the signal pathway of Noth1/Hes-1.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"3-9"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Information About The Association of Clinical Scientists.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"147"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MGLL Promotes Pancreatic Cancer Progression and Invasion: Potential Therapeutic Inhibition by Melatonin.","authors":"Weimin Li, Jin Qian, Hanbo Yang, Jianliang Wu, Zhonglue Wang, Chenghai He, Guodong Li","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Pancreatic adenocarcinoma (PAAD) is an aggressive and lethal cancer with limited treatment options and poor prognosis. Monoacylglycerol lipase (MGLL), a key enzyme in lipid metabolism, is thought to play a role in tumor progression, but its function in PAAD remains unclear. This study aims to investigate the expression and functional significance of MGLL in pancreatic cancer and evaluate melatonin (MLT) as a potential inhibitor of MGLL.</p><p><strong>Methods: </strong>Tissue samples from 22 PAAD patients were collected and analyzed by immunohistochemistry to assess MGLL expression. Bioinformatics tools, including GEPIA and the Human Protein Atlas, were used to compare MGLL expression in pancreatic cancer versus normal tissue, and survival analysis was conducted. In vitro assays, including CCK-8, colony formation, wound healing, and Transwell, were performed on PANC-1 cells to explore the effects of MGLL knockdown using siRNA. Western blotting was used to analyze the impact of MGLL on the P-AKT/AKT signaling pathway and MMP-2/9 expression. The effect of MLT on MGLL expression was evaluated using RNA-seq and qRT-PCR.</p><p><strong>Results: </strong>MGLL was significantly overexpressed in PAAD tissues and was associated with poor patient prognosis. Silencing MGLL in PANC-1 cells reduced cell proliferation, migration, and invasion, likely via the P-AKT/AKT pathway. MLT treatment effectively downregulated MGLL expression, as well as MMP-2 and MMP-9, suggesting that MLT could serve as a potential MGLL inhibitor.</p><p><strong>Conclusion: </strong>MGLL promotes pancreatic cancer progression through the P-AKT/AKT signaling pathway, and MLT may offer a novel therapeutic strategy by inhibiting MGLL expression. These findings highlight MGLL as a potential therapeutic target for PAAD.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"10-18"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive Evaluation of Red Blood Cell Indices and Their Abnormalities in Cancer Patients.","authors":"Mamdouh Allahyani, Tariq Elmissbah, Magdi Salih, Abdulelah Aljuaid, Meshari A Alsuwat, Mohammed A Alshamrani, Mazen M Almehmadi","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Cancer is a common cause of mortality and morbidity, and anemia is a major public health issue globally. This study aimed to determine the morphological types of anemia that occur in newly diagnosed patients with solid malignancies.</p><p><strong>Methods: </strong>This retrospective study was performed on a total of 345 cancer patients to record the types of anemia found in patients with solid tumors using calculation of indices (MCV, MCH, and MCHC) in blood gathered from patients with various solid cancers.</p><p><strong>Results: </strong>Data showed that 260 (75.3%) were female, and 85 (24.7%) were male. The age range was 16-97 years. Various types of cancer were enrolled in the study, including breast (98 cases), female genital tract (70 cases), colorectal (86 cases), head and neck (36 cases), bladder (18 cases), prostate (18 cases), lung (eight cases), liver (eight cases), and lymphoma (three cases) cancers. The morphological classification of anemia was as follows: 167 cases (48.4%) normocytic normochromic anemia, 177 (51.3%) microcytic hypochromic anemia; and one (0.3%) macrocytic anemia. The incidence of microcytic hypochromic anemia was very common in patients with colorectal cancer (55 cases) and rare in patients with lung cancer (four cases).</p><p><strong>Conclusion: </strong>Approximately 48.4% and 51.3% of cancer patients had normocytic and microcytic hypochromic anemia, respectively. Increased examination and more intense treatment procedures is required for those individuals with cancer.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"96-101"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adipose Mesenchymal Stem Cell Exosomes Regulate Ferroptosis via ATF3 to Attenuate Acute Myocardial Infarction.","authors":"Linli Chen, Zhao Liu, Lu Wang, Meiyu Gu, Yongli Luo","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>During acute myocardial infarction (AMI), ferroptosis occurs in cardiomyocytes, leading to ventricular remodeling. To investigate the influence of exosomes (Exo) derived from adipose mesenchymal stem cells (AD-MSCs) on cardiomyocytes, a therapeutic approach to resolve AMI may be discovered.</p><p><strong>Methods: </strong>The Exo of AD-MSCs was isolated and identified, and internalized into cardiomyocytes. <i>In vitro</i>, oxygen-sugar deprivation (OGD) was performed to cultivate H9C2 cells to simulate the AMI model, and H9C2 cells incubated with Exo. In addition, an AMI rat model was constructed, and Exo was injected into the edge of myocardial infarction. The levels of MDA, Fe²⁺, GSH, and GPX4 were detected using corresponding kit, the expression levels of ATF3, SLC7A11, PTGS2, and GPX4 were detected using western blot. The oe-ATF3 plasmid was transfected into H9C2 cells to explore the mechanism of ferroptosis regulation by Exo.</p><p><strong>Results: </strong>Exo was isolated and identified successfully, and further confirmed that it could be internalized into H9C2 cells. Compared with the control group, the level of apoptosis and ferroptosis in OGD group was significantly increased, while the level of cell vitality was significantly decreased. After Exo treatment, the level of ferroptosis and apoptosis was significantly decreased, while the level of cell vitality was significantly increased. However, after overexpression of ATF3 in cells, it was found that the ferroptosis level down-regulated by Exo was reversed. Further examination of the SLC7A11/Xct system showed that ATF3 could inhibit the expression of SLC7A11. In addition, compared with the AMI+PBS group, the infarct size of the AMI+Exo group was significantly reduced, and the level of cardiomyocyte apoptosis and ferroptosis was also significantly improved.</p><p><strong>Conclusion: </strong>Exo derived from AD-MSCs can inhibit the expression of ATF3, promote the transport of Fe²⁺ by SLC7A11/Xct system, thus inhibiting the ferroptosis of myocardial cells in AMI, increasing the activity of myocardial cells, and playing a role in alleviating AMI.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"39-47"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The IL-6/STAT3 Signaling Pathway Is Involved in Radiotherapy-Mediated Upregulation of PD-L1 in Esophageal Cancer.","authors":"Yi-Chen Zhou, Hong-Lei Zhu, Xue-Zhou Pang, Yu He, Yang Shen, Dai-Yuan Ma","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to investigate the mechanism whereby ionizing radiation improves anti-programmed cell death protein 1 (PD-1)/programmed cell death 1 ligand 1 (PD-L1) immunotherapy for esophageal squamous cell carcinoma (ESCC).</p><p><strong>Methods: </strong>The protein levels of interleukin 6 (IL-6), signal transducer, and activator of transcription 3 (STAT3), and PD-L1 in human ESCC specimens and histologically normal tissues were analyzed by western blot. The effects of radiation exposure on PD-L1, STAT3, and IL-6 were determined in three esophageal cancer (EC) cell lines. Radiation therapy plays an important role in the treatment of esophageal cancer, so cell proliferation, invasion, colony formation, and cell cycle were measured before and after radiation exposure.</p><p><strong>Results: </strong>The protein expression levels of PD-L1, IL-6, and STAT3 were significantly greater in ESCC specimens versus normal tissues. Notably, the protein levels of PD-L1 and STAT3 were positively correlated with the T stage, and IL-6 was positively related to the T stage and tumor site. Cox proportional hazard model multivariate analysis indicated that the expression levels of PD-L1, IL-6, and STAT3 were not independent prognostic factors for ESCC. <i>In vitro</i> studies showed that the PD-L1, STAT3, and IL-6 mRNA and protein expression levels in EC cells exposed to radiation were markedly increased. Further mechanistic investigations found that blocking the IL-6/STAT3 pathway significantly abrogated the radiotherapy-mediated increase in p-STAT3 and PD-L1 levels.</p><p><strong>Conclusion: </strong>Radiotherapy significantly upregulates PD-L1 through the IL-6/STAT3 signaling pathway, suggesting that anti-PD-1/PD-L1 immunotherapy combined with radiotherapy may improve the treatment for ESCC.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"28-38"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"miRNA-19a-3p Exacerbates Tube Formation by Targeting SOCS1 to Regulate JAK2/STAT3/VEGF in Diabetic Retinopathy.","authors":"Min Wen, Rong Wu, Jin-Feng Xie, Xiao-Mei Chen, Nian-Lian Wen, Sheng Huang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Diabetic retinopathy (DR) is a retinal microangiopathy caused by diabetes mellitus. miRNAs have been shown to be involved in DR-associated micro vessel formation, influence the DR progression, and may be a therapeutic strategy for DR. miRNA-19a-3p is highly expressed in the vitreous of DR patients, however, its mechanism in the occurrence and development of DR is unclear. Therefore, the purpose of this study was to explore the potential mechanism of miRNA-19a-3p in the occurrence and development of DR.</p><p><strong>Methods: </strong>Human retinal microvascular endothelial cells (hRMECs) were treated with 30 mM high glucose for 48 h to construct a DR cell model. Quantitative real-time polymerase chain reaction was performed to detect the expression levels of miR-19a-3p and SOCS1; the cell viability was measured by Cell Counting Kit-8 after the interference or overexpression of miR-19a-3p. Cell scratch assay was used to verify the cell migration ability; tube formation assay to measure the tube formation ability. The targeting relationship between miR-19a-3p and SOCS1 was demonstrated by dual-luciferase reporter gene assay. Western blot was adopted to determine the protein expression levels of FGF2, VEGFA, SOCS1, JAK2, p-JAK2, STAT3, and p-STAT3.</p><p><strong>Results: </strong>In the hRMECs induced by high glucose, miRNA-19a-3p was increased, while the expression level of SOCS1 was significantly decreased. The cell viability, migration, and tube formation could be markedly inhibited by suppressing the miR-19a-3p expression in hRMECs under high glucose conditions. Besides, the expression level of SOCS1 was remarkably elevated after the inhibition of miR-19a-3p expression. In addition, miR-19a-3p could directly target the negatively regulated SOCS1. The inhibition of SOCS1 expression reversed the effects of miR-19a-3p down-regulation on the viability, migration, and tube formation of hRMECs under high glucose conditions. miR-19a-3p could activate the JAK2/STAT3 signaling pathway by inhibiting the expression of SOCS1, thereby promoting the tube formation.</p><p><strong>Conclusion: </strong>miRNA-19a-3p can target SOCS1 to regulate JAK2/STAT3/VEGF, thereby exacerbating tube formation in DR. The results of this study provide a new target for the treatment of DR.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"19-27"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Relationships Between Inflammatory Cytokines and Sepsis: A Mendelian Randomization Study.","authors":"Feng Lu, Cuilan Chen, Dongshan Feng, Zheyi Zhou, Jin Qin, Jiang Qin, Yizhen Yan, Ying Zhong, Xuan Tang, Tingqiu Wei","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>The complex interplay between inflammatory cytokines and sepsis is not well understood. This study employs Mendelian Randomization (MR) to investigate the causal relationships between various inflammatory cytokines and sepsis, aiming to elucidate the underlying mechanisms and potential therapeutic targets.</p><p><strong>Methods: </strong>This study employed a bidirectional MR approach to investigate the causal effects of inflammatory cytokines on sepsis and vice versa. Genetic variants from genome-wide association studies (GWAS) were used as instrumental variables (IVs). Key MR methods included Inverse Variance Weighted (IVW), MR-Egger, and Weighted Median. SNPs were filtered using a p-value threshold of <5e-08, with linkage disequilibrium exclusions (r²<0.001). We analyzed 41 inflammatory cytokines, utilizing leave-one-out analysis and MR-PRESSO to address pleiotropy.</p><p><strong>Results: </strong>The MR analysis revealed significant causal relationships between specific cytokines and sepsis. CTACK (OR=1.102, <i>P</i>=0.031), MIF (OR=1.071, <i>P</i>=0.036), and TRAIL (OR=1.053, <i>P</i>=0.036) were identified as risk factors, while MIP1-β (OR=0.933, <i>P</i>=0.039) and TGF-<i>α</i> (OR=0.957, <i>P</i>=0.029) emerged as protective factors. Additionally, sepsis increased the risk for IL-2 (OR=1.455, <i>P</i><0.01), IL-6 (OR=1.151, <i>P</i>= 0.012), and MCSF (OR=1.272, <i>P</i>=0.028), while showing a protective effect on NGF-β (OR=0.78, <i>P</i>=0.012) and SCF (OR=0.86, <i>P</i>=0.02).</p><p><strong>Conclusion: </strong>This study reveals novel causal relationships between specific inflammatory cytokines and sepsis, suggesting that CTACK, MIF, and TRAIL are risk factors, while MIP1-β and TGF-<i>α</i> are protective. Additionally, sepsis influences various cytokines, indicating complex bi-directional interactions. These findings provide valuable insights for developing targeted therapeutic strategies to manage sepsis and inflammatory responses.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"64-71"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-Occurrence of <i>ETV6::RUNX1</i> and <i>P2RY8::CRLF2</i> Fusion in a Patient with Relapsed Acute B Lymphoblastic Leukemia.","authors":"William Wu, Chihoon Ahn, Jennifer Scull, Kevin E Fisher, Angshumoy Roy, Dolores H Lopez-Terrada, Andrea N Marcogliese, Anindita Ghosh","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>B-cell acute lymphoblastic leukemias (B-ALLs) harbor recurrent chromosomal aberrations associated with prognostic and therapeutic significance. Although these major driver genetic abnormalities are generally mutually exclusive, they are rarely reported to co-occur. Here, we present the case of a child with B-ALL who suffered two relapses with short event-free intervals. The patient was found to have co-existence of translocation t(12;21) causing <i>ETV6::RUNX1</i> fusion and an interstitial deletion of chromosome X leading to <i>P2RY8::CRLF2</i> fusion. While ETV6::RUNX1 was readily detected by cytogenetic analysis of the bone marrow at the time of diagnosis, the concurrent <i>P2RY8::CRLF2</i> fusion was discovered upon molecular genetic analysis at second relapse. Notably, <i>ETV6::RUNX1</i> and <i>P2RY8::CRLF2</i> each hallmark molecular subclasses of B-ALL with distinct mutational landscapes and clinical prognoses. It is not yet known how co-existing leukemogenic chromosomal aberrations interact to modify treatment response and relapse risk of B-ALL. This case highlights the possibility that co-existing molecular aberrations may greatly impact the clinical course of B-ALL but may be under-recognized in the initial workup using standard diagnostic algorithms.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 1","pages":"133-141"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}