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Annual Review of Pathology-Mechanisms of Disease最新文献

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Unraveling Mechanisms of Genetic Risks in Metabolic Dysfunction-Associated Steatotic Liver Diseases: A Pathway to Precision Medicine.
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 DOI: 10.1146/annurev-pathmechdis-111523-023430
Xiang Zhang, Kyong-Mi Chang, Jun Yu, Rohit Loomba
{"title":"Unraveling Mechanisms of Genetic Risks in Metabolic Dysfunction-Associated Steatotic Liver Diseases: A Pathway to Precision Medicine.","authors":"Xiang Zhang, Kyong-Mi Chang, Jun Yu, Rohit Loomba","doi":"10.1146/annurev-pathmechdis-111523-023430","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-111523-023430","url":null,"abstract":"<p><p>Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing global health problem, affecting ∼1 billion people. This condition is well established to have a heritable component with strong familial clustering. With the extraordinary breakthroughs in genetic research techniques coupled with their application to large-scale biobanks, the field of genetics in MASLD has expanded rapidly. In this review, we summarize evidence regarding genetic predisposition to MASLD drawn from family and twin studies. Significantly, we delve into detailed genetic variations associated with diverse pathogenic mechanisms driving MASLD. We highlight the interplay between these genetic variants and their connections with metabolic factors, the gut microbiome, and metabolites, which collectively influence MASLD progression. These discoveries are paving the way for precise medicine, including noninvasive diagnostics and therapies. The promising landscape of novel genetically informed drug targets such as RNA interference is explored. Many of these therapies are currently under clinical validation, raising hopes for more effective MASLD treatment.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"20 1","pages":"375-403"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Roles of Cellular Neighborhoods in Hepatocellular Carcinoma Pathogenesis.
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 DOI: 10.1146/annurev-pathmechdis-111523-023520
Lichun Ma, Cherry Caiyi Li, Xin Wei Wang
{"title":"Roles of Cellular Neighborhoods in Hepatocellular Carcinoma Pathogenesis.","authors":"Lichun Ma, Cherry Caiyi Li, Xin Wei Wang","doi":"10.1146/annurev-pathmechdis-111523-023520","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-111523-023520","url":null,"abstract":"<p><p>The development of hepatocellular carcinoma (HCC) involves an intricate interplay among various cell types within the liver. Unraveling the orchestration of these cells, particularly in the context of various etiologies, may hold the key to deciphering the underlying mechanisms of this complex disease. The advancement of single-cell and spatial technologies has revolutionized our ability to determine cellular neighborhoods and understand their crucial roles in disease pathogenesis. In this review, we highlight the current research landscape on cellular neighborhoods in chronic liver disease and HCC, as well as the emerging computational approaches applicable to delineate disease-associated cellular neighborhoods, which may offer insights into the molecular mechanisms underlying HCC pathogenesis and pave the way for effective disease interventions.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"20 1","pages":"169-192"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Somatic Mosaicism in Brain Disorders. 脑部疾病中的体细胞嵌合。
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.1146/annurev-pathmechdis-111523-023528
Rachel R Corrigan, Lauren M Mashburn-Warren, Hyojung Yoon, Tracy A Bedrosian
{"title":"Somatic Mosaicism in Brain Disorders.","authors":"Rachel R Corrigan, Lauren M Mashburn-Warren, Hyojung Yoon, Tracy A Bedrosian","doi":"10.1146/annurev-pathmechdis-111523-023528","DOIUrl":"10.1146/annurev-pathmechdis-111523-023528","url":null,"abstract":"<p><p>Research efforts over the past decade have defined the genetic landscape of somatic variation in the brain. Neurons accumulate somatic mutations from development through aging with potentially profound functional consequences. Recent studies have revealed the contribution of somatic mosaicism to various brain disorders including focal epilepsy, neuropsychiatric disease, and neurodegeneration. One notable finding is that the effect of somatic mosaicism on clinical outcomes can vary depending on contextual factors, such as the developmental origin of a variant or the number and type of cells affected. In this review, we highlight current knowledge regarding the role of somatic mosaicism in brain disorders and how biological context can mediate phenotypes. First, we identify the origins of brain somatic variation throughout the lifespan of an individual. Second, we explore recent discoveries that suggest somatic mosaicism contributes to various brain disorders. Finally, we discuss neuropathological associations of brain mosaicism in different biological contexts and potential clinical utility.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":"13-32"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Reflections on a Career in Pediatric Neuropathology, with a Note of Gratitude. 对儿科神经病理学职业生涯的思考，以及感恩之情。
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.1146/annurev-pathmechdis-111523-023355
Hannah C Kinney
{"title":"Reflections on a Career in Pediatric Neuropathology, with a Note of Gratitude.","authors":"Hannah C Kinney","doi":"10.1146/annurev-pathmechdis-111523-023355","DOIUrl":"10.1146/annurev-pathmechdis-111523-023355","url":null,"abstract":"<p><p>I am honored to be asked by the journal to write this personal essay about my career in pediatric neuropathology-a life of immense satisfaction, meaning, and fulfillment. My motivation to enter this discipline is highlighted, as is my decision to perform brain research in the sudden infant death syndrome, the leading cause of postneonatal infant mortality in the United States today. I also touch upon collaborations, mentoring, and experiences along the way-especially with the light microscope. I close with thoughts about the future of the discipline from my perspective as a lifelong devotee.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":"1-11"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Immune Dysregulation in Obesity.
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 DOI: 10.1146/annurev-pathmechdis-051222-015350
Zewen Jiang, Chihiro Tabuchi, Sarah G Gayer, Sagar P Bapat
{"title":"Immune Dysregulation in Obesity.","authors":"Zewen Jiang, Chihiro Tabuchi, Sarah G Gayer, Sagar P Bapat","doi":"10.1146/annurev-pathmechdis-051222-015350","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-051222-015350","url":null,"abstract":"<p><p>The immune system plays fundamental roles in maintaining physiological homeostasis. With the increasing prevalence of obesity-a state characterized by chronic inflammation and systemic dyshomeostasis-there is growing scientific and clinical interest in understanding how obesity reshapes immune function. In this review, we propose that obesity is not merely an altered metabolic state but also a fundamentally altered immunological state. We summarize key seminal and recent findings that elucidate how obesity influences immune function, spanning its classical role in microbial defense, its contribution to maladaptive inflammatory diseases such as asthma, and its impact on antitumor immunity. We also explore how obesity modulates immune function within tissue parenchyma, with a particular focus on the role of T cells in adipose tissue. Finally, we consider areas for future research, including investigation of the durable aspects of obesity on immunological function even after weight loss, such as those observed with glucagon-like peptide-1 (GLP-1) receptor agonist treatment. Altogether, this review emphasizes the critical role of systemic metabolism in shaping immune cell functions, with profound implications for tissue homeostasis across various physiological contexts.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"20 1","pages":"483-509"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Targeting Protein-Protein Interactions in Hematologic Malignancies.
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 DOI: 10.1146/annurev-pathmechdis-031521-033231
Tomasz Cierpicki, Jolanta Grembecka
{"title":"Targeting Protein-Protein Interactions in Hematologic Malignancies.","authors":"Tomasz Cierpicki, Jolanta Grembecka","doi":"10.1146/annurev-pathmechdis-031521-033231","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-031521-033231","url":null,"abstract":"<p><p>Over the last two decades, there have been extensive efforts to develop small-molecule inhibitors of protein-protein interactions (PPIs) as novel therapeutics for cancer, including hematologic malignancies. Despite the numerous challenges associated with developing PPI inhibitors, a significant number of them have advanced to clinical studies in hematologic patients in recent years. The US Food and Drug Administration approval of the very first PPI inhibitor, venetoclax, demonstrated the real clinical value of blocking protein-protein interfaces. In this review, we discuss the most successful examples of PPI inhibitors that have reached clinical studies in patients with hematologic malignancies. We also describe the challenges of blocking PPIs with small molecules, clinical resistance to such compounds, and the lessons learned from the development of successful PPI inhibitors. Overall, this review highlights the remarkable success and substantial promise of blocking PPIs in hematologic malignancies.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"20 1","pages":"275-301"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Choroid Plexus Pathophysiology. 脉络丛病理生理学
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.1146/annurev-pathmechdis-051222-114051
Ya'el Courtney, Alexandra Hochstetler, Maria K Lehtinen
{"title":"Choroid Plexus Pathophysiology.","authors":"Ya'el Courtney, Alexandra Hochstetler, Maria K Lehtinen","doi":"10.1146/annurev-pathmechdis-051222-114051","DOIUrl":"10.1146/annurev-pathmechdis-051222-114051","url":null,"abstract":"<p><p>This review examines the roles of the choroid plexus (ChP) in central nervous system (CNS) pathology, emphasizing its involvement in disease mechanisms and therapeutic potential. Structural changes in the human ChP have been reported across various diseases in case reports and descriptive work, but studies have yet to pin down the physiological relevance of these changes. We highlight primary pathologies of the ChP, as well as their significance in neurologic disorders, including stroke, hydrocephalus, infectious diseases, and neurodegeneration. Synthesizing recent research, this review positions the ChP as a critical player in CNS homeostasis and pathology, advocating for enhanced focus on its mechanisms to unlock new diagnostic and treatment strategies and ultimately improve patient outcomes in CNS diseases. Whether acting as a principal driver of disease, a gateway for pathogens into the CNS, or an orchestrator of neuroimmune processes, the ChP holds tremendous promise as a therapeutic target to attenuate a multitude of CNS conditions.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":"193-220"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications. 髓样肿瘤的遗传倾向：发病机制和临床意义。
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.1146/annurev-pathmechdis-111523-023420
Yen-Chun Liu, Mohammad K Eldomery, Jamie L Maciaszek, Jeffery M Klco
{"title":"Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.","authors":"Yen-Chun Liu, Mohammad K Eldomery, Jamie L Maciaszek, Jeffery M Klco","doi":"10.1146/annurev-pathmechdis-111523-023420","DOIUrl":"10.1146/annurev-pathmechdis-111523-023420","url":null,"abstract":"<p><p>Myeloid neoplasms with and without preexisting platelet disorders frequently develop in association with an underlying germline predisposition. Germline alterations affecting <i>ANKRD26</i>, <i>CEBPA</i>, <i>DDX41</i>, <i>ETV6</i>, and <i>RUNX1</i> are associated with nonsyndromic predisposition to the development of myeloid neoplasms including acute myeloid leukemia and myelodysplastic syndrome. However, germline predisposition to myeloid neoplasms is also associated with a wide range of other syndromes, including <i>SAMD9</i>/<i>9L</i> associated predisposition, <i>GATA2</i> deficiency, RASopathies, ribosomopathies, telomere biology disorders, Fanconi anemia, severe congenital neutropenia, Down syndrome, and others. In the fifth edition of the World Health Organization (WHO) series on the classification of tumors of hematopoietic and lymphoid tissues, myeloid neoplasms associated with germline predisposition have been recognized as a separate entity. Here, we review several disorders from this WHO entity as well as other related conditions with an emphasis on the molecular pathogenesis of disease and accompanying somatic alterations. Finally, we provide an overview of establishing the molecular diagnosis of these germline genetic conditions and general recommendations for screening and management of the associated hematologic conditions.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":"87-114"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Contributions of Inflammation to Cardiometabolic Heart Failure with Preserved Ejection Fraction. 炎症对射血分数保留型心脏代谢性心力衰竭的影响
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 Epub Date: 2025-01-02 DOI: 10.1146/annurev-pathmechdis-111523-023405
Edward B Thorp, Mallory Filipp
{"title":"Contributions of Inflammation to Cardiometabolic Heart Failure with Preserved Ejection Fraction.","authors":"Edward B Thorp, Mallory Filipp","doi":"10.1146/annurev-pathmechdis-111523-023405","DOIUrl":"10.1146/annurev-pathmechdis-111523-023405","url":null,"abstract":"<p><p>The most common form of heart failure is heart failure with preserved ejection fraction (HFpEF). While heterogeneous in origin, the most common form of HFpEF is the cardiometabolic manifestation. Obesity and aging promote systemic inflammation that appears integral to cardiometabolic HFpEF pathophysiology. Accumulation of immune cells within the heart, fueled by an altered metabolome, contribute to cardiac inflammation and fibrosis. In spite of this, broad anti-inflammatory therapy has not shown significant benefit in patient outcomes. Thus, understanding of the nuances to metabolic and age-related inflammation during HFpEF is paramount for more targeted interventions. Here, we review clinical evidence of inflammation in the context of HFpEF and summarize our mechanistic understanding of immunometabolic inflammation, highlighting pathways of therapeutic potential along the way.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":" ","pages":"143-167"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Role of Fungi in Tumorigenesis: Promises and Challenges.
IF 28.4 1区 医学
Annual Review of Pathology-Mechanisms of Disease Pub Date : 2025-01-01 DOI: 10.1146/annurev-pathmechdis-111523-023524
Silvia Guglietta, Xin Li, Deepak Saxena
{"title":"Role of Fungi in Tumorigenesis: Promises and Challenges.","authors":"Silvia Guglietta, Xin Li, Deepak Saxena","doi":"10.1146/annurev-pathmechdis-111523-023524","DOIUrl":"https://doi.org/10.1146/annurev-pathmechdis-111523-023524","url":null,"abstract":"<p><p>The mycobiome plays a key role in the host immune responses in homeostasis and inflammation. Recent studies suggest that an imbalance in the gut's fungi contributes to chronic, noninfectious diseases such as obesity, metabolic disorders, and cancers. Pathogenic fungi can colonize specific organs, and the gut mycobiome has been linked to the development and progression of various cancers, including colorectal, breast, head and neck, and pancreatic cancers. Some fungal species can promote tumorigenesis by triggering the complement system. However, in immunocompromised patients, fungi can also inhibit this activation and establish life-threatening infections. Interestingly, the interaction of the fungi and bacteria can also induce unique host immune responses. Recent breakthroughs and advancements in high-throughput sequencing of the gut and tumor mycobiomes are highlighting novel diagnostic and therapeutic opportunities for cancer. We discuss the latest developments in the field of cancer and the mycobiome and the potential benefits and challenges of antifungal therapies.</p>","PeriodicalId":50753,"journal":{"name":"Annual Review of Pathology-Mechanisms of Disease","volume":"20 1","pages":"459-482"},"PeriodicalIF":28.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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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