Cancer Genetics最新文献_第2页

Novel gene fusions in human oropharyngeal carcinoma 人类口咽癌中的新型基因融合

IF 1.4 4区医学

Cancer Genetics Pub Date : 2024-07-01 DOI: 10.1016/j.cancergen.2024.06.004

Katsuhiro Masago , Hiroaki Kuroda , Eiichi Sasaki , Yasuko Fujita , Shiro Fujita , Yoshitsugu Horio , Motoyoshi Endo , Hiromasa Ishihara , Nobuhiro Hanai , Hirokazu Matsushita

{"title":"Novel gene fusions in human oropharyngeal carcinoma","authors":"Katsuhiro Masago , Hiroaki Kuroda , Eiichi Sasaki , Yasuko Fujita , Shiro Fujita , Yoshitsugu Horio , Motoyoshi Endo , Hiromasa Ishihara , Nobuhiro Hanai , Hirokazu Matsushita","doi":"10.1016/j.cancergen.2024.06.004","DOIUrl":"https://doi.org/10.1016/j.cancergen.2024.06.004","url":null,"abstract":"<div><p>Few reports have analyzed the fusion genes involved in carcinogenesis in the oropharynx, where the incidence of human papillomavirus-associated tumors is relatively low. The aim of this study was to identify novel driver fusion genes in patients with oropharyngeal cancer. The study enrolled fifty-seven patients who were diagnosed with oropharyngeal carcinoma. RNA sequencing data from fresh-frozen specimens were used to identify candidate fusion genes via the JAFFA, arriba, and STAR-Fusion pipelines. Candidate fusion genes were confirmed by direct sequencing. The expression level of a candidate fusion gene was compared to that of tumors without fusion genes. Finally, filtering was performed for driver genes using the annoFuse pipeline. In addition, the VIRTUS pipeline was used to analyze the presence of human papillomavirus in the tumors. We identified 5 (8.8 %) novel potential driver in-frame fusion genes, <em>MKNK2</em>::<em>MOB3A, ICMT</em>::<em>RPS6KA3, ATP1B3</em>::<em>GRK7, CSNK2A1</em>::<em>KIF16B</em>, and <em>FGFR3</em>::<em>MAEA</em>, and 1 (1.8 %) known in-frame fusion gene, <em>FGFR3</em>::<em>TACC3</em>, in 57 patients with pharyngeal carcinoma. Our results suggest that sporadic fusion genes may contribute to tumorigenesis in oropharyngeal carcinomas.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141539920","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}

引用次数: 0

A comparison of WHO-5 and ICC classifications in a series of myeloid neoplasms, considerations for hematopathologists and molecular pathologists 在一系列髓样肿瘤中比较 WHO-5 和 ICC 分类，供血液病理学家和分子病理学家参考。

IF 1.4 4区医学

Cancer Genetics Pub Date : 2024-06-22 DOI: 10.1016/j.cancergen.2024.06.003

Margaret E Moore, Eli Williams, Lauren Pelkey, Elizabeth L Courville

{"title":"A comparison of WHO-5 and ICC classifications in a series of myeloid neoplasms, considerations for hematopathologists and molecular pathologists","authors":"Margaret E Moore, Eli Williams, Lauren Pelkey, Elizabeth L Courville","doi":"10.1016/j.cancergen.2024.06.003","DOIUrl":"10.1016/j.cancergen.2024.06.003","url":null,"abstract":"<div><h3>Objectives</h3><p>The International Consensus Classification (ICC) and 5th Edition of the World Health Organization Classification (WHO-5) made substantive updates to the classification of myeloid neoplasms. This study compares the systems in a series of myeloid neoplasms with increased blasts, analyzing implications for diagnostic workflow and reporting.</p></div><div><h3>Methods</h3><p>Bone marrow biopsies categorized as myelodysplastic syndrome with excess blasts (MDS-EB) or acute myeloid leukemia (AML) by WHO-R4 were identified. Results of morphology review, karyotype, fluorescence in situ hybridization, and next-generation sequencing were compiled. Cases were retrospectively re-classified by WHO-5 and ICC.</p></div><div><h3>Results</h3><p>46 cases were reviewed. 28 cases (61 %) had ≥20 % blasts, with the remaining cases having 5–19.5 % blasts. The most common differences in classification were 1) the designation of MDS versus MDS/AML (10/46, 22 %) for cases with 10–19 % blasts and 2) the ICC's designation of <em>TP53</em> variants as a separate classifier for AML (8/46, 17 %). Bi-allelic/multi-hit <em>TP53</em> alterations were identified in 15 cases (33 %). Variants of potential germline significance were identified in 29 (63 %) cases.</p></div><div><h3>Conclusions</h3><p>While terminology differences between WHO-5 and ICC exist, both systems invoke similar opportunities for improved reporting: standardized classification of pathogenic variants (notably <em>TP53</em>), streamlined systems to evaluate for potential germline variants, and integrated reporting of morphologic and genetic data.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535695","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}

引用次数: 0

Cancer treatments: Past, present, and future 癌症治疗：过去、现在和未来。

IF 1.4 4区医学

Cancer Genetics Pub Date : 2024-06-17 DOI: 10.1016/j.cancergen.2024.06.002

Dmitriy Sonkin , Anish Thomas , Beverly A. Teicher

引用次数: 0

Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients 绝经前和绝经后乳腺癌患者中半数最常突变基因的表达存在差异

IF 1.9 4区医学

Cancer Genetics Pub Date : 2024-06-13 DOI: 10.1016/j.cancergen.2024.06.001

Caglar Berkel, Ercan Cacan

{"title":"Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients","authors":"Caglar Berkel, Ercan Cacan","doi":"10.1016/j.cancergen.2024.06.001","DOIUrl":"https://doi.org/10.1016/j.cancergen.2024.06.001","url":null,"abstract":"<div><p>Breast cancer has distinct causes and molecular characteristics at premenopausal and postmenopausal ages. The age-standardized incidence rate for postmenopausal breast cancer is more than 10 times higher than in premenopausal breast cancer. Here, we showed that the expression of 10 out of 20 most frequently mutated genes in breast cancer (namely, PIK3CA, CDH1, MUC16, PTEN, FAT3, FAT1, SPEN, ARID1A, LRP1B and RUNX1) is higher in premenopausal women with breast cancer than in postmenopausal women with breast cancer. The most significant differences in the expression in terms of menopause status were observed for RUNX1 and FAT1. Furthermore, we found that the majority of these 10 genes also show ER (estrogen receptor) or PR (progesterone receptor) status-dependent expression in both premenopausal and postmenopausal breast cancer patients. Unlike what we observed in the case of ER or PR status, the expression of most of these genes does not change depending on HER2 (human epidermal growth factor receptor 2) status in both premenopausal and postmenopausal breast cancer patients. Combined, our analysis suggests that menopause status might influence the expression of most frequently mutated genes in breast cancer, and that the most of these genes whose expression differ between pre- and post-menopausal women with breast cancer also show ER or PR status-dependent expression in women with breast cancer.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141328933","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}

引用次数: 0

SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1 SP1 诱导的 circ_0017552 通过上调 NET1 调节结肠癌细胞的增殖和凋亡

IF 1.9 4区医学

Cancer Genetics Pub Date : 2024-05-12 DOI: 10.1016/j.cancergen.2024.05.002

Daocheng Liu, Minmin Shen, Zhaohui Liu, Dong Chen, Yuan Pan, Lei Zhang, Xiaoping Xu

{"title":"SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1","authors":"Daocheng Liu, Minmin Shen, Zhaohui Liu, Dong Chen, Yuan Pan, Lei Zhang, Xiaoping Xu","doi":"10.1016/j.cancergen.2024.05.002","DOIUrl":"10.1016/j.cancergen.2024.05.002","url":null,"abstract":"<div><p>Colon cancer (CC) is a common malignancy over the world and its morbidity and mortality significantly went up in China in recent years. Molecular functions in cancers have gradually been the pivot subject in cancer research. Neuroepithelial cell transforming 1 (NET1) was reported to contribute to prostate cancer and gastric cancer. Our study figured out that NET1 was overexpressed in CC cells. Then, loss-of-function assays revealed that NET1 facilitated CC cell proliferation and repressed CC cell apoptosis. Next, miR-338–3p was confirmed to target NET1. After that, we verified that circ_0017552 which originates from NET1 could positively modulate NET1 expression. Besides, circ_0017552 was a sponge of miR-338–3p. Rescue assays’ results demonstrated that circ_0017552 could regulate CC cell proliferation and apoptosis through up-regulation of NET1. A transcription factor named Sp1 (SP1) was found to be present in circ_0017552. SP1 induced transcription of circ_0017552 to facilitate CC cell proliferation and inhibit CC cell apoptosis. In a word, SP1-induced circ_0017552 regulated CC cell proliferation and apoptosis through miR-338–3p/NET1 axis.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141024424","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}

引用次数: 0

LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway LncRNA FOXD2-AS1 通过调控 MiR-185-5p/PLOD1/Akt/mTOR 通路促进 OSCC 细胞的生长、侵袭和迁移

IF 1.9 4区医学

Cancer Genetics Pub Date : 2024-05-06 DOI: 10.1016/j.cancergen.2024.05.001

Jian Liu , Yong Zhang , Jingjing Wu , Xin Liu , Lifang Li , Jinhong Zhang

{"title":"LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway","authors":"Jian Liu , Yong Zhang , Jingjing Wu , Xin Liu , Lifang Li , Jinhong Zhang","doi":"10.1016/j.cancergen.2024.05.001","DOIUrl":"https://doi.org/10.1016/j.cancergen.2024.05.001","url":null,"abstract":"<div><p>Although lncRNAs are recognized to contribute to the development of oral squamous-cell carcinoma (OSCC), their exact function in invasion and cell migration is not clear. In this research, we explored the molecular and cellular mechanisms of FOXD2-AS1 in OSCC. Prognostic and bioinformatics analyses were used to test for the differential expression of FOXD2-AS1-PLOD1. Following FOXD2-AS1 suppression or overexpression, changes in cell viability were measured using the CCK-8 test; changes in cell migration and invasion abilities were measured using the migration and the Transwell assay. The expression of associated genes and proteins was found using Western blot and RT-qPCR. Analysis of luciferase reporter genes was done to look for regulatory connections between various molecules. The FOXD2-AS1-PLOD1 pair, which was highly expressed in OSCC, was analyzed and experimentally verified to be closely related to the prognosis of OSCC, and a nomogram model and correction curve were constructed. The inhibition of FOXD2-AS1 resulted in the reduction of cell activity, migration, invasion ability and changes in genes related to invasion and migration. In vivo validation showed that inhibition of FOXD2-AS1 expression slowed tumor growth, and related proteins changed accordingly. The experiments verified that FOXD2-AS1 negatively regulated miR-185–5 p and that miR-185–5 p negatively regulated PLOD1. In addition, it was found that the expression of PLOD1, p-Akt and p-mTOR proteins in OSCC cells was reduced by the inhibition of FOXD2-AS1, and FOXD2-AS1 and PLOD1 were closely related to the Akt/mTOR pathway. Increased expression of FOXD2-AS1 promotes OSCC growth, invasion and migration, which is important in part by targeting miR-185–5 p/PLOD1/Akt/mTOR pathway activity.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140901891","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}

引用次数: 0

LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185-5p/PLOD1/Akt/mTOR pathway. LncRNA FOXD2-AS1 通过调节 MiR-185-5p/PLOD1/Akt/mTOR 通路促进 OSCC 细胞的生长、侵袭和迁移。

IF 1.9 4区医学

Cancer Genetics Pub Date : 2024-05-01 DOI: 10.1166/jbn.2024.3838

Jian Liu, Yong Zhang, Jing Wu, Xin Liu, Lifang Li, Jinhong Zhang

{"title":"LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185-5p/PLOD1/Akt/mTOR pathway.","authors":"Jian Liu, Yong Zhang, Jing Wu, Xin Liu, Lifang Li, Jinhong Zhang","doi":"10.1166/jbn.2024.3838","DOIUrl":"https://doi.org/10.1166/jbn.2024.3838","url":null,"abstract":"Although lncRNAs are recognized to contribute to the development of oral squamous-cell carcinoma (OSCC), their exact function in invasion and cell migration is not clear. In this research, we explored the molecular and cellular mechanisms of FOXD2-AS1 in OSCC. Prognostic and bioinformatics analyses were used to test for the differential expression of FOXD2-AS1-PLOD1. Following FOXD2-AS1 suppression or overexpression, changes in cell viability were measured using the CCK-8 test; changes in cell migration and invasion abilities were measured using the migration and the Transwell assay. The expression of associated genes and proteins was found using Western blot and RT-qPCR. Analysis of luciferase reporter genes was done to look for regulatory connections between various molecules. The FOXD2-AS1-PLOD1 pair, which was highly expressed in OSCC, was analyzed and experimentally verified to be closely related to the prognosis of OSCC, and a nomogram model and correction curve were constructed. The inhibition of FOXD2-AS1 resulted in the reduction of cell activity, migration, invasion ability and changes in genes related to invasion and migration. In vivo validation showed that inhibition of FOXD2-AS1 expression slowed tumor growth, and related proteins changed accordingly. The experiments verified that FOXD2-AS1 negatively regulated miR-185-5 p and that miR-185-5 p negatively regulated PLOD1. In addition, it was found that the expression of PLOD1, p-Akt and p-mTOR proteins in OSCC cells was reduced by the inhibition of FOXD2-AS1, and FOXD2-AS1 and PLOD1 were closely related to the Akt/mTOR pathway. Increased expression of FOXD2-AS1 promotes OSCC growth, invasion and migration, which is important in part by targeting miR-185-5 p/PLOD1/Akt/mTOR pathway activity.","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141058339","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}

引用次数: 0

Clinical management of TP53 mosaic variants found on germline genetic testing 种系遗传检测中发现的 TP53 马赛克变体的临床管理

IF 1.9 4区医学

Cancer Genetics Pub Date : 2024-04-23 DOI: 10.1016/j.cancergen.2024.04.002

Abigail Ward , Dana Farengo-Clark , Danielle B. McKenna , Anton Safonov , Madeline Good , Anh Le , Lisa Kessler , Payal D. Shah , Angela R. Bradbury , Susan M. Domchek , Katherine L. Nathanson , Jacquelyn Powers , Kara N. Maxwell

{"title":"Clinical management of TP53 mosaic variants found on germline genetic testing","authors":"Abigail Ward , Dana Farengo-Clark , Danielle B. McKenna , Anton Safonov , Madeline Good , Anh Le , Lisa Kessler , Payal D. Shah , Angela R. Bradbury , Susan M. Domchek , Katherine L. Nathanson , Jacquelyn Powers , Kara N. Maxwell","doi":"10.1016/j.cancergen.2024.04.002","DOIUrl":"https://doi.org/10.1016/j.cancergen.2024.04.002","url":null,"abstract":"<div><h3>Background</h3><p>Germline heterozygous <em>TP53</em> pathogenic variants (PVs) cause Li Fraumeni Syndrome (LFS, OMIM#151623). <em>TP53</em> PVs at lower-than-expected variant allele frequencies (VAF) may reflect postzygotic mosaicism (PZM) or clonal hematopoiesis (CH); however, no guidelines exist for workup and clinical management.</p></div><div><h3>Patients and methods</h3><p>Retrospective analysis of probands who presented to an academic cancer genetics program with a <em>TP53</em> PV result on germline genetic testing.</p></div><div><h3>Results</h3><p>Twenty-one of 125 unrelated probands (17 %) were found to harbor a <em>TP53</em> PV with VAF<30 % or a designation of “mosaic”. A diagnosis of PZM was made in nine (43 %) due to a clinical phenotype consistent with LFS with (<em>n</em> = 8) or without (<em>n</em> = 1) positive ancillary tissue testing. Twelve patients (57 %) were diagnosed with presumed CH (pCH) due to a diagnosis of a myeloproliferative neoplasm, negative ancillary tissue testing, clinical phenotype not meeting LFS criteria, no cancer, and/or no first cancer age<50. Of the 19 patients with biological offspring, nine had either partial or complete offspring testing, all negative.</p></div><div><h3>Conclusions</h3><p>Determining the etiology of low VAF <em>TP53</em> PVs requires ancillary tissue testing and incorporation of clinical phenotype. Discerning PZM versus CH is important to provide optimal care and follow-up.</p></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140650049","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}

引用次数: 0

CircMYBL1 suppressed acquired resistance to osimertinib in non-small-cell lung cancer CircMYBL1抑制非小细胞肺癌患者对奥希替尼的获得性耐药性

IF 1.9 4区医学

Cancer Genetics Pub Date : 2024-04-15 DOI: 10.1016/j.cancergen.2024.04.001

Yaji Li , Nan Wang , Yutang Huang , Shuai He , Meihua Bao , Chunjie Wen , Lanxiang Wu

引用次数: 0

Assessment for 11q and other chromosomal aberrations in large B-cell/high-grade B cell lymphomas of germinal center phenotype lacking BCL2 expression 评估缺乏 BCL2 表达的生殖中心表型大 B 细胞/高级别 B 细胞淋巴瘤的 11q 和其他染色体畸变情况

IF 1.9 4区医学

Cancer Genetics Pub Date : 2024-03-16 DOI: 10.1016/j.cancergen.2024.03.001

Chia-Chen Ho , Kikkeri Naresh , Yajuan Liu , Yu Wu , Ajay K Gopal , Ashley M Eckel

引用次数: 0