Seminars in Diagnostic Pathology最新文献_第9页

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

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, Lori A. Erickson, Sounak Gupta","doi":"10.1053/j.semdp.2023.11.003","DOIUrl":"10.1053/j.semdp.2023.11.003","url":null,"abstract":"<div>von Hippel–Lindau (VHL) disease is characterized by biallelic inactivation of the VHL gene leading to abnormal or absent VHL protein 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, endolymphatic sac, lungs, pancreatobiliary system, adrenal glands, epididymis, and/or broad ligament. On histologic examination, these lesions show morphologic overlap as they are frequently characterized by cells with clear cytoplasm and prominent vascularity. 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 VHL 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), 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.</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

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

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

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

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 , Kristian T. Schafernak , Katherine R. Calvo","doi":"10.1053/j.semdp.2023.11.004","DOIUrl":"10.1053/j.semdp.2023.11.004","url":null,"abstract":"<div>Hematological malignancies 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 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.</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

Updates on lymphoblastic leukemia/lymphoma classification and minimal/measurable residual disease analysis 淋巴母细胞白血病/淋巴瘤分类和最小/可测量残留疾病分析的最新进展。

IF 2.3 3区医学

Seminars in Diagnostic Pathology Pub Date : 2023-11-01 DOI: 10.1053/j.semdp.2023.10.001

Alexandra E. Kovach , Brent L. Wood

{"title":"Updates on lymphoblastic leukemia/lymphoma classification and minimal/measurable residual disease analysis","authors":"Alexandra E. Kovach , Brent L. Wood","doi":"10.1053/j.semdp.2023.10.001","DOIUrl":"10.1053/j.semdp.2023.10.001","url":null,"abstract":"<div>Lymphoblastic leukemia/lymphoma (ALL/LBL), especially certain subtypes, continues to confer morbidity and mortality despite significant therapeutic advances. The pathologic classification of ALL/LBL, especially that of B-ALL, has recently substantially expanded with the identification of several distinct and prognostically important genetic drivers. These discoveries are reflected in both current classification systems, the World Health Organization (WHO) 5th edition and the new International Consensus Classification (ICC). In this article, novel subtypes of B-ALL are reviewed, including DUX4, MEF2D and ZNF384-rearranged B-ALL; the rare pediatric entity B-ALL with TLF3::HLF, now added to the classifications, is discussed; updates to the category of B-ALL with BCR::ABL1-like features (Ph-like B-ALL) are summarized; and emerging genetic subtypes of T-ALL are presented. The second half of the article details current approaches to minimal/measurable residual disease (MRD) detection in B-ALL and T-ALL and presents anticipated challenges to current approaches in the burgeoning era of antigen-directed immunotherapy.</div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 457-471"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89720220","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

Classic Hodgkin lymphoma in young people 年轻人的典型霍奇金淋巴瘤

IF 2.3 3区医学

Seminars in Diagnostic Pathology Pub Date : 2023-11-01 DOI: 10.1053/j.semdp.2023.06.005

Srishti Gupta, Jeffrey W. Craig

{"title":"Classic Hodgkin lymphoma in young people","authors":"Srishti Gupta, Jeffrey W. Craig","doi":"10.1053/j.semdp.2023.06.005","DOIUrl":"10.1053/j.semdp.2023.06.005","url":null,"abstract":"<div>Classic Hodgkin lymphoma (CHL) is a unique form of lymphoid cancer featuring a heterogeneous tumor microenvironment and a relative paucity of malignant Hodgkin and Reed-Sternberg (HRS) cells with characteristic phenotype. Younger individuals (children, adolescents and young adults) are affected as often as the elderly, producing a peculiar bimodal age-incidence profile that has generated immense interest in this disease and its origins. Decades of epidemiological investigations have documented the populations most susceptible and identified multiple risk factors that can be broadly categorized as either biological or environmental in nature. Most risk factors result in overt immunodeficiency or confer more subtle alterations to baseline health, physiology or immune function. Epstein Barr virus, however, is both a risk factor and well-established driver of lymphomagenesis in a significant subset of cases. Epigenetic changes, along with the accumulation of somatic driver mutations and cytogenetic abnormalities are required for the malignant transformation of germinal center-experienced HRS cell precursors. Chromosomal instability and the influence of endogenous mutational processes are critical in this regard, by impacting genes involved in key signaling pathways that promote the survival and proliferation of HRS cells and their escape from immune destruction. Here we review the principal features, known risk factors and lymphomagenic mechanisms relevant to newly diagnosed CHL, with an emphasis on those most applicable to young people.</div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 379-391"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10137088","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

A personalized approach to lymphoproliferations in patients with inborn errors of immunity 先天性免疫缺陷患者淋巴细胞增生的个体化治疗方法

IF 2.3 3区医学

Seminars in Diagnostic Pathology Pub Date : 2023-11-01 DOI: 10.1053/j.semdp.2023.07.001

Shachar Naor , Etai Adam , Ginette Schiby , Dita Gratzinger

引用次数: 0