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Developmental Heterogeneity of Rhabdomyosarcoma. 横纹肌肉瘤的发育异质性
IF 7.8 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-21 DOI: 10.1101/cshperspect.a041583
Bradley T Stevens, Mark E Hatley
{"title":"Developmental Heterogeneity of Rhabdomyosarcoma.","authors":"Bradley T Stevens, Mark E Hatley","doi":"10.1101/cshperspect.a041583","DOIUrl":"10.1101/cshperspect.a041583","url":null,"abstract":"<p><p>Rhabdomyosarcoma (RMS) is a pediatric embryonal solid tumor and the most common pediatric soft tissue sarcoma. The histology and transcriptome of RMS resemble skeletal muscle progenitor cells that have failed to terminally differentiate. Thus, RMS is typically thought to arise from corrupted skeletal muscle progenitor cells during development. However, RMS can occur in body regions devoid of skeletal muscle, suggesting the potential for nonmyogenic cells of origin. Here, we discuss the interplay between RMS driver mutations and cell(s) of origin with an emphasis on driving location specificity. Additionally, we discuss the mechanisms governing RMS transformation events and tumor heterogeneity through the lens of transcriptional networks and epigenetic control. Finally, we reimagine Waddington's developmental landscape to include a plane of transformation connecting distinct lineage landscapes to more accurately reflect the phenomena observed in pediatric cancers.</p>","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075772","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}
引用次数: 0
How CRISPR Is Revolutionizing the Generation of New Models for Cancer Research. CRISPR 如何彻底改变癌症研究新模型的生成。
IF 5.4 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-02 DOI: 10.1101/cshperspect.a041384
Francisco J Sánchez Rivera, Lukas E Dow
{"title":"How CRISPR Is Revolutionizing the Generation of New Models for Cancer Research.","authors":"Francisco J Sánchez Rivera, Lukas E Dow","doi":"10.1101/cshperspect.a041384","DOIUrl":"10.1101/cshperspect.a041384","url":null,"abstract":"<p><p>Cancers arise through acquisition of mutations in genes that regulate core biological processes like cell proliferation and cell death. Decades of cancer research have led to the identification of genes and mutations causally involved in disease development and evolution, yet defining their precise function across different cancer types and how they influence therapy responses has been challenging. Mouse models have helped define the in vivo function of cancer-associated alterations, and genome-editing approaches using CRISPR have dramatically accelerated the pace at which these models are developed and studied. Here, we highlight how CRISPR technologies have impacted the development and use of mouse models for cancer research and discuss the many ways in which these rapidly evolving platforms will continue to transform our understanding of this disease.</p>","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223194","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}
引用次数: 0
The Role of Stroma in Cancer Metabolism. 中风在癌症代谢中的作用。
IF 7.8 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-02 DOI: 10.1101/cshperspect.a041540
Alec C Kimmelman, Mara H Sherman
{"title":"The Role of Stroma in Cancer Metabolism.","authors":"Alec C Kimmelman, Mara H Sherman","doi":"10.1101/cshperspect.a041540","DOIUrl":"10.1101/cshperspect.a041540","url":null,"abstract":"<p><p>The altered metabolism of tumor cells is a well-known hallmark of cancer and is driven by multiple factors such as mutations in oncogenes and tumor suppressor genes, the origin of the tissue where the tumor arises, and the microenvironment of the tumor. These metabolic changes support the growth of cancer cells by providing energy and the necessary building blocks to sustain proliferation. Targeting these metabolic alterations therapeutically is a potential strategy to treat cancer, but it is challenging due to the metabolic plasticity of tumors. Cancer cells have developed ways to scavenge nutrients through autophagy and macropinocytosis and can also form metabolic networks with stromal cells in the tumor microenvironment. Understanding the role of the tumor microenvironment in tumor metabolism is crucial for effective therapeutic targeting. This review will discuss tumor metabolism and the contribution of the stroma in supporting tumor growth through metabolic interactions.</p>","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10925555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10213395","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}
引用次数: 0
Isocitrate Dehydrogenase Mutations in Cancer: Mechanisms of Transformation and Metabolic Liability. 癌症中的异柠檬酸脱氢酶突变：转化机制和代谢责任。
IF 5.4 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-02 DOI: 10.1101/cshperspect.a041537
Kathryn Gunn, Julie-Aurore Losman
{"title":"Isocitrate Dehydrogenase Mutations in Cancer: Mechanisms of Transformation and Metabolic Liability.","authors":"Kathryn Gunn, Julie-Aurore Losman","doi":"10.1101/cshperspect.a041537","DOIUrl":"10.1101/cshperspect.a041537","url":null,"abstract":"<p><p>Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are metabolic enzymes that interconvert isocitrate and 2-oxoglutarate (2OG). Gain-of-function mutations in <i>IDH1</i> and <i>IDH2</i> occur in a number of cancers, including acute myeloid leukemia, glioma, cholangiocarcinoma, and chondrosarcoma. These mutations cripple the wild-type activity of IDH and cause the enzymes to catalyze a partial reverse reaction in which 2OG is reduced but not carboxylated, resulting in production of the (<i>R</i>)-enantiomer of 2-hydroxyglutarate ((<i>R</i>)-2HG). (<i>R</i>)-2HG accumulation in <i>IDH-mutant</i> tumors results in profound dysregulation of cellular metabolism. The most well-characterized oncogenic effects of (<i>R</i>)-2HG involve the dysregulation of 2OG-dependent epigenetic tumor-suppressor enzymes. However, (<i>R</i>)-2HG has many other effects in <i>IDH-mutant</i> cells, some that promote transformation and others that induce metabolic dependencies. Herein, we review how cancer-associated <i>IDH</i> mutations impact epigenetic regulation and cellular metabolism and discuss how these effects can potentially be leveraged to therapeutically target <i>IDH-mutant</i> tumors.</p>","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402160","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}
引用次数: 0
Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism. 针对葡萄糖代谢的视网膜色素变性基因疗法。
IF 7.8 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-02 DOI: 10.1101/cshperspect.a041289
Yunlu Xue, Constance L Cepko
{"title":"Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism.","authors":"Yunlu Xue, Constance L Cepko","doi":"10.1101/cshperspect.a041289","DOIUrl":"10.1101/cshperspect.a041289","url":null,"abstract":"<p><p>Retinitis pigmentosa is a blinding disease wherein rod photoreceptors are affected first, due to the expression of a disease gene, leading to the loss of dim light vision. In many cases, cones do not express the disease gene, yet they are also affected and eventually die, typically after most of the rods in their neighborhood have died. The cause of secondary cone death is unclear. Photoreceptors are one of the most energy-demanding cell types in the body and consume a high amount of glucose. At an early stage of degeneration, the cones appear to have a shortage of glucose to fuel their metabolism. This review focuses on gene therapy approaches that address this potential metabolic shortcoming.</p>","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":" ","pages":""},"PeriodicalIF":7.8,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11065158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9830052","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}
引用次数: 0
Developmental Dysregulation of Childhood Cancer 儿童癌症的发育失调
IF 5.4 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-01 DOI: 10.1101/cshperspect.a041580
Thomas R.W. Oliver, Sam Behjati
{"title":"Developmental Dysregulation of Childhood Cancer","authors":"Thomas R.W. Oliver, Sam Behjati","doi":"10.1101/cshperspect.a041580","DOIUrl":"https://doi.org/10.1101/cshperspect.a041580","url":null,"abstract":"Most childhood cancers possess distinct clinicopathological profiles from those seen in adulthood, reflecting their divergent mechanisms of carcinogenesis. Rather than depending on the decades-long, stepwise accumulation of changes within a mature cell that defines adult carcinomas, many pediatric malignancies emerge rapidly as the consequence of random errors during development. These errors—whether they be genetic, epigenetic, or microenvironmental—characteristically block maturation, resulting in phenotypically primitive neoplasms. Only an event that falls within a narrow set of spatiotemporal parameters will forge a malignant clone; if it occurs too soon then the event might be lethal, or negatively selected against, while if it is too late or in an incorrectly primed precursor cell then the necessary intracellular conditions for transformation will not be met. The precise characterization of these changes, through the study of normal tissues and tumors from patients and model systems, will be essential if we are to develop new strategies to diagnose, treat, and perhaps even prevent childhood cancer.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":"145 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140835231","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}
引用次数: 0
Angiogenesis and Microvascular Permeability 血管生成和微血管通透性
IF 5.4 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-01 DOI: 10.1101/cshperspect.a041163
Ye Zeng, Bingmei M. Fu
{"title":"Angiogenesis and Microvascular Permeability","authors":"Ye Zeng, Bingmei M. Fu","doi":"10.1101/cshperspect.a041163","DOIUrl":"https://doi.org/10.1101/cshperspect.a041163","url":null,"abstract":"Angiogenesis, the formation of new blood microvessels, is a necessary physiological process for tissue generation and repair. Sufficient blood supply to the tissue is dependent on microvascular density, while the material exchange between the circulating blood and the surrounding tissue is controlled by microvascular permeability. We thus begin this article by reviewing the key signaling factors, particularly vascular endothelial growth factor (VEGF), which regulates both angiogenesis and microvascular permeability. We then review the role of angiogenesis in tissue growth (bone regeneration) and wound healing. Finally, we review angiogenesis as a pathological process in tumorigenesis, intraplaque hemorrhage, cerebral microhemorrhage, pulmonary fibrosis, and hepatic fibrosis. Since the glycocalyx is important for both angiogenesis and microvascular permeability, we highlight the role of the glycocalyx in regulating the interaction between tumor cells and endothelial cells (ECs) and VEGF-containing exosome release and uptake by tumor-associated ECs, all of which contribute to tumorigenesis and metastasis.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":"5 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140835704","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}
引用次数: 0
Toward a Unified Theory of Why Young People Develop Cancer 构建年轻人罹患癌症的统一理论
IF 5.4 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-01 DOI: 10.1101/cshperspect.a041658
Alex Kentsis
{"title":"Toward a Unified Theory of Why Young People Develop Cancer","authors":"Alex Kentsis","doi":"10.1101/cshperspect.a041658","DOIUrl":"https://doi.org/10.1101/cshperspect.a041658","url":null,"abstract":"Epidemiologic and genetic studies have now defined specific patterns of incidence and distinct molecular features of cancers in young versus aging people. Here, I review a general framework for the causes of cancer in children and young adults by relating somatic genetic mosaicism and developmental tissue mutagenesis. This framework suggests how aging-associated cancers such as carcinomas, glioblastomas, and myelodysplastic leukemias are causally distinct from cancers that predominantly affect children and young adults, including lymphoblastic and myeloid leukemias, sarcomas, neuroblastomas, medulloblastomas, and other developmental cancers. I discuss the oncogenic activities of known developmental mutators RAG1/2, AID, and PGBD5, and describe strategies needed to define missing developmental causes of young-onset cancers. Thus, a precise understanding of the mechanisms of tissue-specific somatic mosaicism, developmental mutators, and their control by human genetic variation and environmental exposures is needed for improved strategies for cancer screening, prevention, and treatment.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":"10 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140835164","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}
引用次数: 0
New Paradigms in the Clinical Management of Li–Fraumeni Syndrome 李-弗劳米尼综合征临床治疗新范例
IF 5.4 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-01 DOI: 10.1101/cshperspect.a041584
Camilla Giovino, Vallijah Subasri, Frank Telfer, David Malkin
{"title":"New Paradigms in the Clinical Management of Li–Fraumeni Syndrome","authors":"Camilla Giovino, Vallijah Subasri, Frank Telfer, David Malkin","doi":"10.1101/cshperspect.a041584","DOIUrl":"https://doi.org/10.1101/cshperspect.a041584","url":null,"abstract":"Approximately 8.5%–16.2% of childhood cancers are associated with a pathogenic/likely pathogenic germline variant—a prevalence that is likely to rise with improvements in phenotype recognition, sequencing, and variant validation. One highly informative, classical hereditary cancer predisposition syndrome is Li–Fraumeni syndrome (LFS), associated with germline variants in the <em>TP53</em> tumor suppressor gene, and a &gt;90% cumulative lifetime cancer risk. In seeking to improve outcomes for young LFS patients, we must improve the specificity and sensitivity of existing cancer surveillance programs and explore how to complement early detection strategies with pharmacology-based risk-reduction interventions. Here, we describe novel precision screening technologies and clinical strategies for cancer risk reduction. In particular, we summarize the biomarkers for early diagnosis and risk stratification of LFS patients from birth, noninvasive and machine learning–based cancer screening, and drugs that have shown the potential to be repurposed for cancer prevention.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":"52 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140835165","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}
引用次数: 0
Breast Cancer 乳腺癌
IF 5.4 2区 医学
Cold Spring Harbor perspectives in medicine Pub Date : 2024-05-01 DOI: 10.1101/cshperspect.a041729
Jane E. Visvader, Jeffrey M. Rosen, Samuel Aparicio
{"title":"Breast Cancer","authors":"Jane E. Visvader, Jeffrey M. Rosen, Samuel Aparicio","doi":"10.1101/cshperspect.a041729","DOIUrl":"https://doi.org/10.1101/cshperspect.a041729","url":null,"abstract":"Breast cancer kills hundreds of thousands of people every year. Rapid progress over the past two decades has increased our understanding of the genetic and environmental risk factors for disease. It has also shed light on drivers of tumor progression and the molecular landscape underpinning tumor heterogeneity, as well as the role of the microenvironment and the immune system. These strides forward should lead to more effective and tailored therapies for early- and late-stage patients.","PeriodicalId":10452,"journal":{"name":"Cold Spring Harbor perspectives in medicine","volume":"37 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140835237","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}
引用次数: 0
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