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><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}
{"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><p>Classic Hodgkin lymphoma<span><span><span> (CHL) is a unique form of lymphoid cancer featuring a heterogeneous tumor microenvironment<span> 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. </span></span>Epigenetic<span> 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. </span></span>Chromosomal instability<span> 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.</span></span></p></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}
{"title":"A personalized approach to lymphoproliferations in patients with inborn errors of immunity","authors":"Shachar Naor , Etai Adam , Ginette Schiby , Dita Gratzinger","doi":"10.1053/j.semdp.2023.07.001","DOIUrl":"10.1053/j.semdp.2023.07.001","url":null,"abstract":"<div><p>Biopsies from patients with inborn error of immunity (IEI) may pose a diagnostic challenge due to the abnormal anatomy<span><span> of their lymphoid organs and the tendency for the development of </span>lymphoproliferations<span> in various organs, some of which may lead to the wrong impression of malignant lymphoma which may prompt aggressive unnecessary treatment. In this article we will review typical histologic findings in various IEI's described in the literature and discuss the appropriate approach to the diagnosis of lymphoproliferations in these patients by presenting illustrative cases.</span></span></p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 408-419"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9841310","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}
{"title":"Post-transplant lymphoproliferative disorders (PTLD) in adolescents and young adults: A category in need of definition","authors":"Amy Chadburn","doi":"10.1053/j.semdp.2023.07.002","DOIUrl":"10.1053/j.semdp.2023.07.002","url":null,"abstract":"<div><p>Post-transplant lymphoproliferative disorders are a well-recognized complication of solid organ and stem cell transplantation<span>. Much data has accumulated with respect to the pathobiology and clinical behavior of these lesions in the general post-transplant population as well as in the pediatric and adult age groups. However, information as to these lesions in the adolescent and young adult populations, which bridge the pediatric and adult groups, is limited. In this review, the focus is on this unique population of PTLD patients and their proliferations.</span></p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 401-407"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10083126","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}
{"title":"TABLE OF CONTENTS (p/u from previous issue w/updates)","authors":"","doi":"10.1053/S0740-2570(23)00104-1","DOIUrl":"https://doi.org/10.1053/S0740-2570(23)00104-1","url":null,"abstract":"","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Page ii"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0740257023001041/pdfft?md5=8777bdaf6e6611d4094c440b552fb405&pid=1-s2.0-S0740257023001041-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138395618","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}
{"title":"Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist","authors":"Jingwei Li , Jacob R. Bledsoe","doi":"10.1053/j.semdp.2023.06.006","DOIUrl":"10.1053/j.semdp.2023.06.006","url":null,"abstract":"<div><p><span><span>The diagnostic work up and surveillance of germline disorders of bone marrow failure and predisposition to </span>myeloid malignancy<span><span><span><span> is complex and involves correlation between clinical findings, laboratory and genetic studies, and bone marrow histopathology. The rarity of these disorders and the overlap of clinical and pathologic features between primary and secondary causes of bone marrow failure, acquired </span>aplastic anemia<span>, and myelodysplastic syndrome may result in diagnostic uncertainty. With an emphasis on the pathologist's perspective, we review diagnostically useful features of germline disorders including </span></span>Fanconi anemia<span>, Shwachman-Diamond syndrome, telomere biology disorders, </span></span>severe congenital neutropenia<span>, GATA2 deficiency, </span></span></span><em>SAMD9/SAMD9L</em> diseases, Diamond-Blackfan anemia, and acquired aplastic anemia. We discuss the distinction between baseline morphologic and genetic findings of these disorders and features that raise concern for the development of myelodysplastic syndrome.</p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 429-442"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10246342","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}
{"title":"The changing landscape of pediatric histiocytoses: Birth, life, and transdifferentiation of pediatric histiocytes","authors":"Aaron Auerbach , Nadine S. Aguilera","doi":"10.1053/j.semdp.2023.05.003","DOIUrl":"10.1053/j.semdp.2023.05.003","url":null,"abstract":"<div><p><span>Histiocytic neoplasms in the children are very rare, and histiocytoses can occur in the perinatal period<span>. The presumed origins and presentation of specific histiocytoses in the pediatric age group are described. Common and newly described histiocytoses are presented including </span></span>Langerhans cell histiocytosis<span>, Rosai-Dorfman disease, histiocytic sarcoma<span>, ALK positive histiocytosis, and hemophagocytic lymphohistiocytosis. Molecular findings common to pediatric histiocytoses are also discussed.</span></span></p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 420-428"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9551883","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}
{"title":"Reactive Lymphadenopathy in the Pediatric Population with a Focus on Potential Mimics of Lymphoma","authors":"Rachel A. Mariani , Elizabeth L. Courville","doi":"10.1053/j.semdp.2023.05.004","DOIUrl":"10.1053/j.semdp.2023.05.004","url":null,"abstract":"<div><p><span>Benign lymphadenopathy<span> is common in the pediatric population and may be clinically striking. As in adults, lymph node evaluation in pediatric patients requires careful morphologic and immunohistochemical assessment and clinical contextualization of the findings. It is important for the </span></span>pathologist<span> to be familiar with benign and reactive conditions that may mimic malignancy<span>. This review presents non-neoplastic or indolent processes or patterns of lymphoid hyperplasia that may be confused with or raise the differential of lymphoma, with a focus on those more commonly encountered in the pediatric/adolescent population.</span></span></p></div>","PeriodicalId":49548,"journal":{"name":"Seminars in Diagnostic Pathology","volume":"40 6","pages":"Pages 371-378"},"PeriodicalIF":2.3,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9599381","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}