Diagnostic Histopathology最新文献

Mature B-cell leukemias/lymphomas in the bone marrow: beyond chronic lymphocytic leukemia and mantle cell lymphoma 骨髓成熟b细胞白血病/淋巴瘤：除慢性淋巴细胞白血病和套细胞淋巴瘤外

Diagnostic Histopathology Pub Date : 2025-10-01 DOI: 10.1016/j.mpdhp.2025.07.006

Alberto Zamò

{"title":"Mature B-cell leukemias/lymphomas in the bone marrow: beyond chronic lymphocytic leukemia and mantle cell lymphoma","authors":"Alberto Zamò","doi":"10.1016/j.mpdhp.2025.07.006","DOIUrl":"10.1016/j.mpdhp.2025.07.006","url":null,"abstract":"<div><div>Differentiating between reactive B-cell infiltrates, clonal non-lymphomatous B-cell proliferations and small B-cell lymphomas in the bone marrow (BM) can be a challenging task, especially in consideration of the high number of potential differential diagnoses, the rather subtle morphological differences and the often non-specific phenotypes. It requires a high degree of integration of clinical, laboratory, morphological, immunophenotypical and genetic information to define a definitive diagnosis. Besides the well-defined lymphomas involving the bone marrow, like follicular lymphoma (FL) and lymphoplasmacytic lymphoma (LPL), diagnostic clues to distinguish more difficult entities, such as splenic marginal zone lymphoma (SMZL), splenic diffuse red pulp B-cell lymphoma (SDRPBL) and splenic small B-cell lymphoma with prominent nucleoli/hairy cell leukemia variant (SBCLPN/HCLV) are discussed; also, the BM patterns of non-lymphomatous clonal B-cell lymphoproliferations, such as monoclonal B-cell lymphocytosis (MBL) and primary cold agglutinin disease (PCAD) are described. This review is intended to guide a diagnostically-oriented pathologist through the conundrum of possible entities presenting in the bone marrow. A practical approach is presented, which can be implemented in daily routine. We will also highlight the limitations of the bone marrow biopsy in establishing a primary diagnosis of lymphoma, especially in absence of the ancillary information.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 10","pages":"Pages 636-649"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recognizing non-neoplastic mimics of lymphoid malignancies in the bone marrow and peripheral blood: pearls and pitfalls 识别骨髓和外周血中淋巴样恶性肿瘤的非肿瘤性模拟物：珍珠和陷阱

Diagnostic Histopathology Pub Date : 2025-10-01 DOI: 10.1016/j.mpdhp.2025.07.003

Margaret Moore, Elizabeth L. Courville

引用次数: 0

Hemophagocytic lymphohistiocytosis and other histiocytic disorders of the bone marrow in children 儿童骨髓的噬血细胞、淋巴组织细胞病和其他组织细胞疾病

Diagnostic Histopathology Pub Date : 2025-10-01 DOI: 10.1016/j.mpdhp.2025.07.005

Karen M Chisholm, Sandra D Bohling

{"title":"Hemophagocytic lymphohistiocytosis and other histiocytic disorders of the bone marrow in children","authors":"Karen M Chisholm, Sandra D Bohling","doi":"10.1016/j.mpdhp.2025.07.005","DOIUrl":"10.1016/j.mpdhp.2025.07.005","url":null,"abstract":"<div><div>The primary functions of bone marrow histiocytes are to remove cellular debris (phagocytosis) and to store and metabolize iron. Increased bone marrow histiocytes can be seen in both non-specific reactive settings and in histiocytic disorders. One such entity, hemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory syndrome resulting from excessive and uncontrolled immune activation. Bone marrow hemophagocytosis, the ingestion/engulfment of intact nucleated cells by marrow histiocytes, is one of the diagnostic criteria of HLH, along with fever, splenomegaly, cytopenias, hypofibrinogenemia, hypertriglyceridemia, and other evidence of immune/T-cell activation. As such, bone marrow evaluation is an important component of the HLH work-up, performed to identify hemophagocytic histiocytes and to evaluate for potential triggers of immune activation, such as a hematologic malignancy. Bone marrow evaluation can also be helpful in the diagnosis of other histiocytic proliferations, such as metabolic storage disorders including Gaucher disease and Niemann-Pick disease. Increased bone marrow histiocytes may also represent involvement by histiocytic/dendritic cell neoplasms, such as Langerhans cell histiocytosis, juvenile xanthogranuloma, or ALK-positive histiocytosis. This review will examine the bone marrow findings, diagnostic work-up, and underlying causes of HLH, as well as discuss other histiocytic bone marrow proliferations that can affect the pediatric population.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 10","pages":"Pages 623-635"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnosis of pediatric acute myeloid leukemia and mixed-phenotype acute leukemia 小儿急性髓性白血病和混合表型急性白血病的诊断

Diagnostic Histopathology Pub Date : 2025-10-01 DOI: 10.1016/j.mpdhp.2025.07.001

Xenia Parisi, Jacob R Bledsoe

{"title":"Diagnosis of pediatric acute myeloid leukemia and mixed-phenotype acute leukemia","authors":"Xenia Parisi, Jacob R Bledsoe","doi":"10.1016/j.mpdhp.2025.07.001","DOIUrl":"10.1016/j.mpdhp.2025.07.001","url":null,"abstract":"<div><div>Pediatric acute myeloid leukemia (AML) represents a group of genetically and clinicopathologically heterogeneous entities, and includes many types that do not occur in adults, presenting unique challenges in clinical practice. Accurate diagnosis and classification impacts therapeutic decisions and relies on an integrated approach that incorporates clinical features, morphologic examination, immunophenotyping, and comprehensive genetic testing. This review covers the clinicopathologic spectrum of pediatric AML, with a focus on age-specific genetic abnormalities and morphologic variants. We present a diagnostic approach to pediatric AML that incorporates the age of presentation together with morphologic and immunophenotypic clues that may suggest an underlying genetic driver, or that should prompt additional testing. In addition to a description of the most common pediatric AML entities (<em>KMT2A</em>-r, <em>RUNX1::RUNX1T1</em>; <em>CBFB::MYH11</em>, and <em>NUP98</em>-r), we detail particular types of AML that are enriched in children. These include acute megakaryoblastic and erythroid leukemias, as well as newly described entities including AML with <em>KAT6A</em>-r, ETS-family fusions (including <em>MNX1::ETV6</em> and <em>FUS::ERG</em>), <em>UBTF</em>-tandem duplications, <em>CBFB</em><em>=</em>GDXY, <em>KMT2A</em>-PTD, and TTMV::<em>RARA</em>, among others. Finally, we include a description of myeloid proliferations of Down syndrome and mixed-phenotype acute leukemias. Key differences from adult AML are emphasized, with a focus on the critical interpretive role of the pathologist in integrating bone marrow findings with clinical and molecular data for accurate classification and risk stratification.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 10","pages":"Pages 531-563"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnosis of chronic myeloid neoplasms and approach to germline predisposition in children 儿童慢性髓系肿瘤的诊断及种系易感性的探讨

Diagnostic Histopathology Pub Date : 2025-10-01 DOI: 10.1016/j.mpdhp.2025.07.002

Xenia Parisi, Jacob R Bledsoe

{"title":"Diagnosis of chronic myeloid neoplasms and approach to germline predisposition in children","authors":"Xenia Parisi, Jacob R Bledsoe","doi":"10.1016/j.mpdhp.2025.07.002","DOIUrl":"10.1016/j.mpdhp.2025.07.002","url":null,"abstract":"<div><div>Chronic myeloid disorders in the pediatric population include myelodysplastic syndrome/neoplasm (MDS), juvenile myelomonocytic leukemia (JMML) and similar disorders, such as Noonan syndrome-associated myeloproliferations, and myeloproliferative neoplasms (MPNs) including chronic myeloid leukemia, mastocytosis, polycythemia vera, essential thrombocythemia, and primary myelofibrosis. These disorders pose significant diagnostic complexities due to their rarity and overlap with reactive conditions. This review examines the distinctive clinicopathologic features of chronic myeloid neoplasms occurring in childhood, emphasizing the importance of a comprehensive diagnostic approach that integrates clinical assessment, morphologic analysis, immunophenotyping, and genetic studies. Special attention is given to germline predisposition syndromes and their implications for diagnosis and management, including <em>GATA2</em> deficiency, <em>SAMD9</em>/<em>SAMD9L</em> disorders, severe congenital neutropenia, Fanconi anemia, telomere biology disorders, familial platelet disorders, and germline variants in <em>ERCC6L2</em>, <em>CEBPA</em>, <em>DDX41</em>, and <em>TP53</em>, among others. MDS occurring in the setting of insertional mutagenesis after gene therapy is discussed. Emphasis is placed on the description of reactive non-neoplastic conditions that may mimic myeloid neoplasia in the pediatric setting. The pathologist's role is crucial in recognizing subtle morphologic clues and integrating them with molecular findings to distinguish these entities from germline disorders and benign processes.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 10","pages":"Pages 564-596"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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CD5-positive hairy cell leukaemia cd5阳性毛细胞白血病

Diagnostic Histopathology Pub Date : 2025-10-01 DOI: 10.1016/j.mpdhp.2025.07.007

Manas Dave, Lucia Lazzereschi, Muntasser Alsharabati, Ke Xu, Teresa Marafioti

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Recognizing non-neoplastic mimics of myeloid malignancies in the bone marrow and peripheral blood: pearls and pitfalls 识别骨髓和外周血中髓系恶性肿瘤的非肿瘤性模拟物：珍珠和陷阱

Diagnostic Histopathology Pub Date : 2025-10-01 DOI: 10.1016/j.mpdhp.2025.07.004

Margaret Moore, Elizabeth L Courville

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Molecular pathogenesis of parathyroid adenoma and carcinoma 甲状旁腺瘤和癌的分子发病机制

Diagnostic Histopathology Pub Date : 2025-09-01 DOI: 10.1016/j.mpdhp.2025.06.003

Runjan Chetty

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An update on the classification and molecular pathology of the adrenal cortex 肾上腺皮质的分类和分子病理学的最新进展

Diagnostic Histopathology Pub Date : 2025-09-01 DOI: 10.1016/j.mpdhp.2025.06.004

Aria Kazerouni, Runjan Chetty

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Macroscopic examination of endocrine specimens: a critical appraisal 内分泌标本的宏观检查：关键评价

Diagnostic Histopathology Pub Date : 2025-09-01 DOI: 10.1016/j.mpdhp.2025.06.001

Murali Varma, Mufaddal T Moonim

{"title":"Macroscopic examination of endocrine specimens: a critical appraisal","authors":"Murali Varma, Mufaddal T Moonim","doi":"10.1016/j.mpdhp.2025.06.001","DOIUrl":"10.1016/j.mpdhp.2025.06.001","url":null,"abstract":"<div><div>Meticulous macroscopic examination is the cornerstone of histopathology<span> reporting because macroscopically missed abnormalities are unlikely to be identified by microscopic examination. In this review, we critically discuss some general issues around macroscopy that have been insufficiently addressed in the literature and then focus on specific issues related to the macroscopic examination of the thyroid, parathyroid and adrenal glands. The importance of the clinical context, optimal specimen fixation, clinically focused macroscopic descriptions and judicious tissue sampling is emphasized. Specimens resulting from therapeutic procedures generally require only limited sampling. Targeted sampling is key as even complete submission would result in microscopic evaluation of only about 0.2% of a specimen. Some issues with current guidance such as recommendations based on the number of blocks to be submitted per centimetre maximum tumour dimension are also discussed. The amount of tissue submitted in a cassette is very variable and it is unclear whether “block” refers to a tissue block or a paraffin block. Two pieces of tissue in a cassette would result in two blocks of tissue in a single paraffin block.</span></div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 9","pages":"Pages 499-505"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144933897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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