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Seminars in Diagnostic Pathology最新文献

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Hereditary papillary renal cell carcinoma 遗传性乳头状肾细胞癌
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2024-01-01 DOI: 10.1053/j.semdp.2023.12.002
Isa Mulingbayan Jacoba, Zhichun Lu
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引用次数: 0
Pathology of hereditary renal cell carcinoma syndromes: Tuberous sclerosis complex (TSC) 遗传性肾细胞癌综合征的病理学：结节性硬化综合征（TSC）
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2024-01-01 DOI: 10.1053/j.semdp.2023.09.001
Miranda E. Machacek, Chin-Lee Wu, Kristine M. Cornejo
{"title":"Pathology of hereditary renal cell carcinoma syndromes: Tuberous sclerosis complex (TSC)","authors":"Miranda E. Machacek,&nbsp;Chin-Lee Wu,&nbsp;Kristine M. Cornejo","doi":"10.1053/j.semdp.2023.09.001","DOIUrl":"10.1053/j.semdp.2023.09.001","url":null,"abstract":"<div><p><span>Tuberous sclerosis<span> complex (TSC) is an autosomal dominant genetic disease characterized by hamartomatous tumors involving multiple organs such as the brain, skin, heart, lung and kidney. TSC is caused by inactivating mutations in </span></span><em>TSC1/TSC2</em><span><span><span>, which encodes hamartin and </span>tuberin, respectively, and forms a complex that regulates </span>mechanistic target of rapamycin complex 1<span><span> (mTORC1), resulting in cell overgrowth and oncogenesis. Since a leading cause of morbidity and mortality in TSC relates to chronic kidney disease and the ability to preserve renal function, this review describes the important pathologic findings in TSC-associated renal neoplasms and their correlating sporadic counterparts. The most common </span>renal tumor<span><span> in TSC patients are AMLs, followed by a heterogeneous spectrum of renal </span>epithelial tumors, which may provide clues to establishing a diagnosis of TSC.</span></span></span></p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"41 1","pages":"Pages 8-19"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135388098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
COVER (PMS 180&K) (p/u from previous issue w/updates) 封面（PMS 180&K）（上一期的原版，有更新）
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2024-01-01 DOI: 10.1053/S0740-2570(24)00012-1
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引用次数: 0
MASTHEAD (p/u from previous issue) MASTHEAD （P/U 自上期起）
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2024-01-01 DOI: 10.1053/S0740-2570(24)00013-3
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引用次数: 0
von Hippel–Lindau disease-related neoplasia with an emphasis on renal manifestations 冯-希佩尔-林道病相关肿瘤，重点是肾脏表现
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2024-01-01 DOI: 10.1053/j.semdp.2023.11.003
Burak Tekin, Lori A. Erickson, Sounak Gupta
{"title":"von Hippel–Lindau disease-related neoplasia with an emphasis on renal manifestations","authors":"Burak Tekin,&nbsp;Lori A. Erickson,&nbsp;Sounak Gupta","doi":"10.1053/j.semdp.2023.11.003","DOIUrl":"10.1053/j.semdp.2023.11.003","url":null,"abstract":"<div><p>von Hippel–Lindau (VHL) disease is characterized by biallelic inactivation of the <em>VHL</em><span><span><span> gene leading to abnormal or absent VHL protein<span> function, and constitutive activation of hypoxia-inducible factors (HIF) that leads to pro-tumorigenic signaling. Individuals with VHL disease develop numerous cysts and tumors involving multiple organs including the kidneys, central nervous system, </span></span>endolymphatic sac<span><span>, lungs, pancreatobiliary system, adrenal glands, </span>epididymis, and/or </span></span>broad ligament<span>. On histologic examination, these lesions show morphologic overlap as they are frequently characterized by cells with clear cytoplasm and prominent vascularity<span>. In addition to distinguishing non-renal tumors from metastatic clear cell renal cell carcinoma, understanding site-specific histopathologic and immunophenotypic features of these tumors has several applications. This includes distinguishing VHL-related tumors from those that arise sporadically and lack </span></span></span><em>VHL</em><span><span> gene alterations, guiding further genetic workup, and helping distinguish between different genetic predisposition syndromes. In this context, immunohistochemical studies for markers such as paired box 8 (PAX-8), </span>carbonic anhydrase 9 (CA9), and glucose transporter 1 (GLUT-1) have an important role in routine clinical practice and represent cost-effective diagnostic tools. The recent development of targeted therapeutics directed against HIF-mediated signaling represents a significant milestone in the management of VHL disease and highlights the importance of accurately diagnosing and characterizing the wide spectrum of VHL disease-associated lesions.</span></p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"41 1","pages":"Pages 20-27"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135564555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
EDITORIAL BOARD (p/u from previous issue) 编辑委员会（上期增刊）
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2024-01-01 DOI: 10.1053/S0740-2570(24)00014-5
{"title":"EDITORIAL BOARD (p/u from previous issue)","authors":"","doi":"10.1053/S0740-2570(24)00014-5","DOIUrl":"https://doi.org/10.1053/S0740-2570(24)00014-5","url":null,"abstract":"","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"41 1","pages":"Page i"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0740257024000145/pdfft?md5=1278b0d270b7b8389dfe63efa703ce0c&pid=1-s2.0-S0740257024000145-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139487298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Kidney cancer: Links between hereditary syndromes and sporadic tumorigenesis 肾癌:遗传综合征和散发性肿瘤发生之间的联系。
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2024-01-01 DOI: 10.1053/j.semdp.2023.11.002
Michel Alchoueiry , Kristine Cornejo , Elizabeth P. Henske
{"title":"Kidney cancer: Links between hereditary syndromes and sporadic tumorigenesis","authors":"Michel Alchoueiry ,&nbsp;Kristine Cornejo ,&nbsp;Elizabeth P. Henske","doi":"10.1053/j.semdp.2023.11.002","DOIUrl":"10.1053/j.semdp.2023.11.002","url":null,"abstract":"<div><p><span><span>Multiple hereditary syndromes predispose to kidney cancer, including Von Hippel-Lindau syndrome, BAP1-Tumor Predisposition Syndrome, Hereditary Papillary Renal Cell Carcinoma, </span>Tuberous Sclerosis<span> Complex, Birt-Hogg-Dubé syndrome, Hereditary Paraganglioma–Pheochromocytoma Syndrome, Fumarate Hydratase<span> Tumor Predisposition Syndrome, and Cowden syndrome<span>. In some cases, mutations in the genes that cause hereditary kidney cancer are tightly linked to similar histologic features in sporadic RCC. For example, clear cell RCC occurs in the hereditary syndrome VHL, and sporadic ccRCC usually has inactivation of the VHL gene. In contrast, mutations in </span></span></span></span>FLCN, the causative gene for Birt-Hogg-Dube syndrome, are rarely found in sporadic RCC. Here, we focus on the genes and pathways that link hereditary and sporadic RCC.</p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"41 1","pages":"Pages 1-7"},"PeriodicalIF":2.3,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
MASTHEAD (p/u from previous issue) 报头(p/u从上一期)
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2023-11-01 DOI: 10.1053/S0740-2570(23)00102-8
{"title":"MASTHEAD (p/u from previous issue)","authors":"","doi":"10.1053/S0740-2570(23)00102-8","DOIUrl":"https://doi.org/10.1053/S0740-2570(23)00102-8","url":null,"abstract":"","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Page IFC"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138430554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
COVER (PMS 180&K) (p/u from previous issue w/updates) 封面(PMS 180&K) (p/u来自上一期，并有更新)
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2023-11-01 DOI: 10.1053/S0740-2570(23)00101-6
{"title":"COVER (PMS 180&K) (p/u from previous issue w/updates)","authors":"","doi":"10.1053/S0740-2570(23)00101-6","DOIUrl":"https://doi.org/10.1053/S0740-2570(23)00101-6","url":null,"abstract":"","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Page OFC"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138430553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Diagnostic work-up of hematological malignancies with underlying germline predisposition disorders (GPD) 血液病伴潜在生殖系易感性疾病(GPD)的诊断检查
IF 2.3 3区 医学
Seminars in Diagnostic Pathology Pub Date : 2023-11-01 DOI: 10.1053/j.semdp.2023.11.004
Rashmi Kanagal-Shamanna , Kristian T. Schafernak , Katherine R. Calvo
{"title":"Diagnostic work-up of hematological malignancies with underlying germline predisposition disorders (GPD)","authors":"Rashmi Kanagal-Shamanna ,&nbsp;Kristian T. Schafernak ,&nbsp;Katherine R. Calvo","doi":"10.1053/j.semdp.2023.11.004","DOIUrl":"10.1053/j.semdp.2023.11.004","url":null,"abstract":"<div><p>Hematological malignancies<span><span> with underlying germline predisposition disorders have been recognized by the World Health Organization 5th edition and International Consensus Classification (ICC) classification systems. The list of genes and the associated phenotypes are expanding and involve both pediatric and adult populations. While the clinical presentation and underlying </span>molecular pathogenesis are relatively well described, the knowledge regarding the bone marrow morphologic features, the landscape of somatic aberrations associated with progression to hematological malignancies is limited. These pose challenges in the diagnosis of low-grade myelodysplastic syndrome (MDS) to hematopathologists which carries direct implication for various aspects of clinical management of the patient, donor selection for transplantation, and family members. Here in, we provide a focused review on the diagnostic work-up of hematological malignancies with underlying germline predisposition disorders with emphasis on the spectrum of hematological malignancies associated with each entity, and characteristic bone marrow morphologic, somatic cytogenetic and molecular alterations at the time of diagnosis of hematological malignancies. We also review the key clinical, morphologic, and molecular features, that should initiate screening for these entities.</span></p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 443-456"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135610315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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