Genes, Chromosomes & Cancer最新文献

{"title":"Clinicopathologic Features of NRG1 Fusion-Positive Non-Small Cell Lung Cancer","authors":"Bahadır Köylü,&nbsp;Nur İlayda Genç,&nbsp;Mehmet Haluk Yücel,&nbsp;Anıl Yıldız,&nbsp;Esra Aşık,&nbsp;Cevat İlteriş Kıkılı,&nbsp;Fatih Kemik,&nbsp;Nazan Demir,&nbsp;Pınar Bulutay,&nbsp;Ömer Fatih Ölmez,&nbsp;Fatih Selçukbiricik","doi":"10.1002/gcc.70170","DOIUrl":"10.1002/gcc.70170","url":null,"abstract":"<div>\u0000 \u0000 <p>Data on the clinicopathological features of <i>NRG1</i> fusion-positive non-small cell lung cancer (NSCLC) are limited. We conducted a retrospective, multicenter study and included patients with <i>NRG1</i> fusion-positive NSCLC diagnosed between January 2018 and February 2025. Six patients were identified; five were female (83.3%), two were never-smokers (33.3%), and four were former smokers (66.7%). Adenocarcinoma was the predominant histology (<i>n</i> = 5), comprising mucinous (<i>n</i> = 2), enteric (<i>n</i> = 2), and not otherwise specified (<i>n</i> = 1) variants, while one patient had squamous cell carcinoma. All were PD-L1–negative, and <i>CD74-NRG1</i> was the most common fusion (50%). Three patients received afatinib; only one achieved a partial response with a progression-free survival of 8.7 months. Median overall survival was 6.7 months. Our study demonstrates the histologic and molecular heterogeneity of <i>NRG1</i> fusion-positive NSCLC, encompassing mucinous and enteric variants of adenocarcinoma. Responses to afatinib were variable, underscoring the need for more effective therapies, including zenocutuzumab and emerging agents.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 9","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tandem Double Inversion Resolves the Structural Paradox Underlying Recurrent KAT6A::NCOA2 Fusion in Acute Myeloid Leukemia","authors":"Jun Nagai,&nbsp;Shota Yoshida,&nbsp;Takanori Teshima,&nbsp;Masahiro Onozawa","doi":"10.1002/gcc.70171","DOIUrl":"10.1002/gcc.70171","url":null,"abstract":"<div>\u0000 \u0000 <p>The <i>KAT6A::NCOA2</i> (formerly <i>MOZ::TIF2</i>) fusion is an extremely rare recurrent genetic abnormality in acute myeloid leukemia (AML), with only nine cases reported to date. It has consistently been associated with inv(8)(p11q13). However, the genomic mechanism underlying this fusion has remained unresolved. Because both <i>KAT6A</i> and <i>NCOA2</i> are transcribed in the same reverse orientation on chromosome 8, a simple inversion is structurally insufficient to generate a transcriptionally competent fusion transcript, creating a long-standing cytogenetic paradox. We analyzed an AML case harboring a <i>KAT6A::NCOA2</i> fusion using targeted genomic profiling and breakpoint-level validation. In addition to the canonical <i>KAT6A::NCOA2</i> fusion, sequencing identified an unexpected <i>MTFR1::KAT6A</i> rearrangement. Since <i>MTFR1</i> is located between <i>KAT6A</i> and <i>NCOA2</i> on chromosome 8, we hypothesized a complex intrachromosomal rearrangement. Genomic breakpoint analysis revealed that the fusion was generated not by a single inv(8), but by two adjacent intrachromosomal inversions forming a tandem double inversion. This rearrangement reoriented genomic segments to place <i>KAT6A</i> and <i>NCOA2</i> in a transcriptionally compatible configuration, enabling fusion formation. These findings resolve the structural paradox of <i>KAT6A::NCOA2</i>-positive AML by demonstrating that a cytogenetically apparent inv(8)(p11q13) can conceal a tandem double-inversion architecture that reorients <i>KAT6A</i> and <i>NCOA2</i> into a transcriptionally compatible configuration.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 9","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NOTCH3 Internal Tandem Duplication Defines a Novel Oncogenic Activation Mechanism of NOTCH Signaling","authors":"Hongyi Gao,&nbsp;Si Chen,&nbsp;Ying Wu,&nbsp;Jintao Fu,&nbsp;Rongjun Mao,&nbsp;Mei Yang,&nbsp;Yanan Li,&nbsp;Zhiyue Bao,&nbsp;Huafei Chen,&nbsp;Jingjing Feng,&nbsp;Lijun Meng,&nbsp;Sheng Xiao","doi":"10.1002/gcc.70169","DOIUrl":"10.1002/gcc.70169","url":null,"abstract":"<div>\u0000 \u0000 <p>NOTCH signaling is activated in tumors through multiple mechanisms, including mutations, gene rearrangements, and gene amplification. We report a novel activation mechanism, an internal tandem duplication (ITD) near the NOTCH3 negative regulatory region (NRR), found in a myogenic mesenchymal neoplasm. This 17-amino acid residue duplication disrupts the tightly autoinhibited structure surrounding the S2 cleavage site, resulting in ligand-independent S2 cleavage and constitutive pathway activation, as demonstrated by increased expression of the NOTCH3 target gene <i>HES1</i>. Cells expressing NOTCH3-ITD showed increased nuclear localization of the receptor and exhibited malignant phenotypes, including enhanced proliferation and migration. Together, these findings support the oncogenic role of NOTCH3-ITD.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 9","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148900274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pleomorphic Liposarcoma: Comprehensive Genomic Analysis of 39 Cases With Comparison to Other Genomically Complex Sarcomas","authors":"Mohamed A. Yakoub,&nbsp;Carla Saoud,&nbsp;David Kim,&nbsp;Mark A. Dickson,&nbsp;Aimee M. Crago,&nbsp;Meera Hameed,&nbsp;Narasimhan P. Agaram","doi":"10.1002/gcc.70166","DOIUrl":"https://doi.org/10.1002/gcc.70166","url":null,"abstract":"<div>\u0000 \u0000 <p>Pleomorphic liposarcoma (PLPS) is an aggressive high-grade sarcoma that often shows diverse morphological features and can mimic high-grade undifferentiated pleomorphic sarcoma (UPS)/spindle cell sarcoma or myxofibrosarcoma (MFS), especially when pleomorphic lipoblasts are sparse. The molecular profile of PLPS is distinct from well differentiated/dedifferentiated liposarcoma and myxoid liposarcoma. In this study, we investigate 39 cases of PLPS by comprehensive genomic profiling, occurring in 32 patients with available molecular data. Cases were reviewed and morphologic parameters—lipoblastic component, UPS-like, and MFS-like areas were estimated. The genomic findings were collected and compared to UPS and MFS groups studied using the same platform. The cohort included 15 females and 17 males, with a median age of 56.5 (range, 34–78). The lower extremity (<i>n</i> = 17) was the most common site involved, followed by upper extremity (<i>n</i> = 5) and pelvis (<i>n</i> = 5). UPS-like and MFS-like patterns were the most common morphologic variants, ranging from 15% to 95% and 20% to 90%, respectively. <i>TP53</i> (87%) and <i>RB1</i> (51%) mutations and copy number alterations were the most common alterations seen, followed by <i>ATRX</i> (36%). Compared to UPS and MFS, <i>TP53</i> and <i>RB1</i> gene alterations were significantly more common in PLPS. Conversely, <i>CDKN2A/B</i> deletions were infrequent in PLPS. Survival analysis showed that <i>MYC</i> amplification was associated with significantly shorter overall survival in PLPS. Among histologic variants, <i>CYSLTR2</i> alterations were found to be highest in cases with predominantly pleomorphic lipoblasts; additionally, strong correlations were found between gene alteration frequencies of MFS and MFS-like PLPS, and between UPS and UPS-like PLPS. <i>RB1</i> allele-specific copy number analysis showed loss of heterozygosity in 82% of cases. Our cohort of PLPS showed a complex molecular landscape with distinct genetic alterations, histologic correlations, and clinical outcomes, highlighting its unique position among genomically complex sarcomas and providing insights that may inform future diagnostic and therapeutic approaches.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 9","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148860113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malignant MITF-Rearranged PEComa With Novel EEF1A1::MITF Fusion","authors":"Sierra Raney,&nbsp;Arivarasan Karunamurthy,&nbsp;Jonhan Ho,&nbsp;Robert Bubar,&nbsp;Maedeh Mohebnasab,&nbsp;John Skaugen,&nbsp;Mohamed Elmoryah,&nbsp;Benjamin Nacev,&nbsp;Richard McGough,&nbsp;Ivy John","doi":"10.1002/gcc.70168","DOIUrl":"https://doi.org/10.1002/gcc.70168","url":null,"abstract":"<p><i>MITF</i>-rearranged PEComas are rare, and their relationship to <i>MITF</i>-altered melanocytic tumors remains incompletely characterized. We report a malignant superficial soft tissue neoplasm of the thigh in a 45-year-old woman harboring a novel <i>EEF1A1::MITF</i> fusion. The tumor was composed of epithelioid to plump spindle cells arranged in sheets, nests, and short fascicles with prominent capillary vasculature. Significant cytologic atypia, brisk mitotic activity, and necrosis were present. The tumor cells showed diffuse strong nuclear MITF and diffuse GPNMB expression, with patchy SMA, scattered desmin, and multifocal cathepsin K positivity, while S100, SOX10, HMB45, Melan A, PRAME, tyrosinase, pancytokeratin, CD34, and TFE3 were negative. Although atypical for classic PEComa, this immunophenotype resembles that described in MITF-overexpressing PEComas. Molecular studies identified an <i>ATRX</i> frameshift mutation, homozygous <i>CDKN2A/CDKN2B</i> deletion, complex copy number alterations, and an in-frame <i>EEF1A1::MITF</i> fusion. No canonical <i>TSC1</i>, <i>TSC2</i>, or <i>FLCN</i> alteration was identified. These findings expand the molecular spectrum of PEComa and support the emerging concept that a subset of cutaneous PEComas may be driven by <i>MITF</i> rearrangements.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 9","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70168","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148860158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding the Epigenetic Landscape of Barrett's Esophagus and Esophageal Cancer: A Review of Current Findings, Caveats and Future Directions","authors":"Louise Lawless,&nbsp;Trevor Doherty,&nbsp;Carla Surlis,&nbsp;Niamh Gilmartin,&nbsp;Therese M. Murphy","doi":"10.1002/gcc.70167","DOIUrl":"https://doi.org/10.1002/gcc.70167","url":null,"abstract":"<p>Esophageal cancer (OC) is currently the eighth most common form of cancer worldwide with a 5-year survival rate of 10%–20%, with the primary risk factor of esophageal adenocarcinoma (OAC) being the development of Barrett's Esophagus (BO). Despite its clinical significance, the molecular pathogenesis underlying both BO and OC is not well understood. In recent years, epigenetic dysregulation, particularly aberrant DNA methylation, has emerged as a critical area of investigation, given its potential utility in the identification of diagnostic, prognostic, and therapeutic biomarkers. This review examines the evolving epigenetic landscape of esophageal cancer, including a focus on its origins in BO with a particular emphasis on DNA methylation, the most extensively researched epigenetic mechanism. Key DNA methylation-associated alterations involved in OAC and OSCC initiation and progression are discussed, alongside their potential clinical application as biomarkers for early detection, prognosis, and risk stratification in BO populations. Furthermore, the role of these epigenetically regulated genes in the disruption of Wnt signaling and cell cycle control pathways implicated in esophageal carcinogenesis is explored. The review concludes by outlining future research directions, current challenges, and the promise of epigenetic studies in advancing our understanding of OC pathogenesis and improving patient outcomes.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 9","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70167","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148860157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MEIS1::NCOA2 Rearranged Spindle Cell Neoplasm of Vulva With Unusual Low-Grade Morphology","authors":"Pinki Soni,&nbsp;Liyan Song,&nbsp;Jason Phung,&nbsp;Andrew Colebatch,&nbsp;John M. Gross,&nbsp;Pedram Argani,&nbsp;Pranav Dorwal","doi":"10.1002/gcc.70164","DOIUrl":"https://doi.org/10.1002/gcc.70164","url":null,"abstract":"<p><i>MEIS1::NCOA2</i> is a recurrent gene fusion that has been predominantly identified in primitive sarcomas arising within the genitourinary and gynecological tracts. Since its initial description in 2018, an increasing number of cases have been reported, further defining the clinicopathological spectrum of this entity. We report a case of an <i>MEIS1::NCOA2</i>-rearranged low-grade myxoid spindle cell neoplasm arising in the vulva of a 31-year-old female, presenting as a polypoid mass. Histologically, the lesion was composed predominantly of hypocellular spindle-cell areas, with focal hypercellular and focal myxoid regions. Immunohistochemistry was nonspecific, demonstrating weak, variable expression of estrogen receptor (ER) and focal positivity for desmin, WT1, smooth muscle actin, and h-caldesmon. RNA-based next-generation sequencing identified a <i>MEIS1::NCOA2</i> fusion transcript, which was subsequently confirmed by fluorescence in situ hybridization (FISH), demonstrating <i>NCOA2</i> rearrangement. This case demonstrates remarkably bland, low-grade cytological features and appears to represent the least cytologically atypical example of this neoplasm described to date. As such, it further extends the known morphological spectrum and contributes to our evolving understanding of this entity. Given the deceptively benign histological appearance and the absence of overt sarcomatous features, we favor the designation of “<i>MEIS1::NCOA2-</i>rearranged low-grade myxoid spindle cell neoplasm” rather than sarcoma.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 8","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70164","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148784567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pitfalls and Challenges in the Detection of ZNF384 Rearrangements by Fluorescence in Situ Hybridization","authors":"Karin Nebral,&nbsp;Margit König,&nbsp;Sabrina Haslinger,&nbsp;Andrea Inthal,&nbsp;Dagmar Schinnerl,&nbsp;Maya-Marisol Plank,&nbsp;Klaus Fortschegger,&nbsp;Andishe Attarbaschi,&nbsp;Oskar A. Haas,&nbsp;Sabine Strehl","doi":"10.1002/gcc.70161","DOIUrl":"https://doi.org/10.1002/gcc.70161","url":null,"abstract":"<div>\u0000 \u0000 <p>Fusion genes involving <i>ZNF384</i> define a rare subtype of B-cell acute lymphoblastic leukemia with favorable to intermediate outcomes. <i>ZNF384</i> rearrangements (<i>ZNF384-r</i>) with diverse partner genes are often cryptic, making whole-transcriptome sequencing (RNA-seq) the most sensitive technique for their detection. For patient screening and routine diagnostics, fluorescence in situ hybridization (FISH) using a dual-color break-apart probe is considered a reliable alternative. However, the sensitivity and specificity of FISH for detecting <i>ZNF384-r</i> have not been systematically evaluated. In this study, we assessed the performance of FISH by comparing its results with RNA-seq data from the same patient cohort. We also performed single-nucleotide polymorphism array analysis to identify copy-number alterations indicative of <i>ZNF384</i>-r and the respective partner genes. While FISH proved highly specific, its sensitivity was lower than anticipated, potentially leading to misdiagnosis in a substantial proportion of patients.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 8","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148784568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hematologic Manifestations of Constitutional Trisomy 8 Mosaicism: Two Cases and a Systematic Review of Cytogenetically Confirmed Patients","authors":"Andrea Magni,&nbsp;Riccardo Pagani,&nbsp;Antonio Maria Alviano,&nbsp;Lucia Pia Bruno,&nbsp;Rebecca Fumagalli,&nbsp;Grazia Fazio,&nbsp;Marta Galbiati,&nbsp;Federica Mottadelli,&nbsp;Andrea Biondi,&nbsp;Vincenzo L’Imperio,&nbsp;Adriana Cristina Balduzzi,&nbsp;Francesca Vendemini,&nbsp;Francesco Saettini","doi":"10.1002/gcc.70163","DOIUrl":"https://doi.org/10.1002/gcc.70163","url":null,"abstract":"<div>\u0000 \u0000 <p>Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal disorder associated with congenital anomalies and hematologic malignancies, although its hematologic spectrum remains poorly defined. We report two institutional cases and performed a systematic review restricted to patients with trisomy 8 confirmed in both hematopoietic and non-hematopoietic tissues. Among 61 patients, hematologic abnormalities ranged from macrocytosis and cytopenias to dysplastic bone marrow changes and malignancies. No clear age-dependent peak of transformation emerged. Our findings suggest that CT8M represents a lifelong state of mosaic hematopoiesis with variable hematologic manifestations and uncertain malignant potential.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 8","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148783794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Contribution of CD133 Gene Polymorphisms to Cancer Risk: Integrating Case–Control Evidence With Meta-Analysis","authors":"Xinyi Zhang,&nbsp;Hang Zhou,&nbsp;Yongwei Li,&nbsp;Yuping Chu,&nbsp;Boyu Li,&nbsp;Jiaxuan Dai,&nbsp;Qinyue Yang,&nbsp;Xianhong Feng,&nbsp;Bifeng Chen","doi":"10.1002/gcc.70162","DOIUrl":"10.1002/gcc.70162","url":null,"abstract":"<div>\u0000 \u0000 <p>Previous studies have extensively examined the associations between <i>CD133</i> gene polymorphisms (rs10022537, rs2286455, rs2240688, and rs3130) and cancer risk, but have yielded inconsistent results. This study aimed to investigate the potential contributions of these polymorphisms to the susceptibility of liver, lung, and gastric cancers through a replicated case–control study and a subsequent systematic meta-analysis. A total of 480 patients with liver cancer, 550 patients with lung cancer, 460 patients with gastric cancer, and 800 healthy controls from the Hubei population were enrolled. Sanger sequencing assay was applied to genotype the four target <i>CD133</i> gene polymorphisms. The case–control study revealed that rs10022537 was significantly associated with the risk of liver cancer but not with the risk of lung or gastric cancer. In contrast, rs3130 was significantly associated with both lung and liver cancer risk, whereas no association was observed with gastric cancer risk. rs2240688 exhibited a significant association exclusively with lung cancer risk, and rs2286455 showed no significant association with any of the three cancer types. The meta-analysis further demonstrated that rs3130 was significantly associated with lung cancer risk in the Chinese population, and rs2240688 was significantly associated with gastric cancer risk. No significant association was found for rs10022537 or rs2286455 with liver, lung, or gastric cancer risk. Collectively, these findings suggested that rs3130 and rs2240688 in the <i>CD133</i> gene may serve as susceptibility factors for risk of lung cancer and gastric cancer, respectively. Further validation studies in larger and more diverse populations are warranted.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"65 8","pages":""},"PeriodicalIF":2.3,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148712087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}