Journal of Hematopathology最新文献

{"title":"A rare case of fluid overload-associated large B-cell lymphoma and antigen loss at relapse","authors":"Xue Yan, Bin Chen, Hongxia Jing, Zhinan Yang, Ting Zhang, Yani Lin, Jinning Shi","doi":"10.1007/s12308-023-00566-3","DOIUrl":"https://doi.org/10.1007/s12308-023-00566-3","url":null,"abstract":"<p>Fluid overload-associated large B-cell lymphoma (FO-LBCL) is a new addition to the list of large B-cell lymphomas in the 5th edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO-HAEM5). This report presents an unusual case of FO-LBCL with partial B cell antigen loss at relapse and reviews the characteristics, treatment, and prognosis of these patients to enhance our understanding of this disease. Immunophenotyping was performed through immunohistochemistry and flow cytometry. Immunoglobulin gene rearrangements were analyzed using BIOMED-2 multiplex primers. <i>MYC</i>, <i>BCL2</i>, and <i>BCL6</i> gene rearrangements were detected by fluorescent in situ hybridization (FISH). Cell-free DNA (cfDNA) from pleural effusion and peripheral blood was subjected to somatic mutation evaluation using next-generation sequencing (NGS). In 2020, the patient was initially diagnosed with tuberculous pleurisy and received anti-tuberculous drugs. Subsequent testing of the pleural effusion cell block revealed that the large cells to be positive for CD10, CD20, CD79a, PAX5, MUM1, Bcl-2, Bcl-6, and c-myc and negative for CD3, CD30, Cyclin D1, and HHV8. In situ hybridization for Epstein-Barr virus (EBV)-associated mRNA (EBER-ISH) was negative. Additionally, a clonal rearrangement of immunoglobulin heavy locus (IGH) FR2-JH was detected; the results of <i>MYC</i>, <i>BCL2</i>, and <i>BCL6</i> gene rearrangements were all negative. Following pleural drainage treatment, the patient achieved symptom remission and was diagnosed with large B-cell lymphoma (HHV8-unrelated PEL-like lymphoma). In 2022, the patient was readmitted due to the recurrence of pleural effusion. The pleural effusion cell block revealed a distinct immunophenotype compared to previous findings, positivity for PAX5 and negativity for CD20, CD10, CD3, CD5, CD30, CD38, CD138, CD79a, MUM1, Bcl-2, Bcl-6, Cyclin D1, c-myc, ALK, and HHV8. Identical <i>IGH</i> FR2-JH clonal rearrangement suggested the recurrence of the original clone. CfDNA analysis showed mutations in <i>CD79B</i>, <i>MYD88</i>, <i>CCND3</i>, and <i>DTX1</i>. The patient was ultimately diagnosed with FO-LBCL based on the WHO-HAEM5 classification. Diagnosis of FO-LBCL should be differentiated from primary effusion lymphoma (PEL). The features of this case align with the description of “FO-LBCL” in WHO-HAEM5 and “HHV8 and EBV-negative primary effusion-based lymphoma” in International Consensus Classification (ICC). FO-LBCL patients generally have a more favorable prognosis compared to PEL. In this case, the patient exhibited a favorable prognosis for over 22 months without additional treatment apart from pleural drainage.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"50 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138533328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two cases of mycosis fungoides with large cell transformation with KMT2A rearrangements","authors":"Paul A. Wadsworth, Lauren Lawrence, Carlos J. Suarez, Atif Saleem, Michael S. Khodadoust, Youn H. Kim, Kerri E. Rieger, Sebastian Fernandez-Pol","doi":"10.1007/s12308-023-00567-2","DOIUrl":"https://doi.org/10.1007/s12308-023-00567-2","url":null,"abstract":"<p>Cutaneous T-cell lymphomas (CTCL) are a clinically and molecularly heterogeneous class of lymphomas of the skin-homing T cell, and their genetic profiles are not fully characterized. Previously, rearrangements of the Lysine Methyltransferase 2A (<i>KMT2A</i>) gene have been identified as driver mutations only in acute leukemias. <i>KMT2A</i> plays a role in epigenetic regulation, and cancers with such rearrangements are responsive to epigenetic therapy including hypomethylating agents. Here, we report two cases of CTCL with novel genetic profiles. <i>KMT2A</i> rearrangements were identified in two aggressive cases of mycosis fungoides with large cell transformation. A <i>KMT2A::DSCAML1</i> gene rearrangement was seen in Case 1, while a <i>KMT2A::MAPRE1</i> fusion was identified in Case 2. These cases demonstrate that <i>KMT2A</i> rearrangements can be found in primary CTCLs rather than solely acute leukemias, illustrating the importance of correlating molecular findings with clinical and histologic features in diagnosis. Additionally, this finding suggests that the subset of CTCLs driven by aberrancy of the <i>KMT2A</i> pathway may be responsive to therapy with hypomethylating agents or menin inhibitors, as seen in acute leukemias.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"21 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138533218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased IgG4+ plasma cells are common in excised lymph nodes from children and adolescents without IgG4-related disease","authors":"Rachel M. Whitehair, Nadine S. Aguilera, Patcharin Pramoonjago, Jeffrey W. Craig","doi":"10.1007/s12308-023-00565-4","DOIUrl":"https://doi.org/10.1007/s12308-023-00565-4","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" 17","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135192684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral follicular lymphoma: a clinicopathologic and molecular study","authors":"Lucas Lacerda de Souza, Cinthia Veronica Bardález López de Cáceres, Maria Sissa Pereira Sant’Ana, Paulo Victor Mendes Penafort, Bruno Augusto Benevenuto de Andrade, Hélder Antônio Rebelo Pontes, Wagner Henriques de Castro, Ricardo Alves Mesquita, José Cândido Caldeira Xavier-Júnior, Alan Roger Santos-Silva, Márcio Ajudarte Lopes, Ciro Dantas Soares, Liam Robinson, Willie F. P. van Heerden, Rommel Mario Rodríguez Burbano, Guilherme Rossi Assis-Mendonça, José Vassallo, Silvia Ferreira de Sousa, Pablo Agustin Vargas, Felipe Paiva Fonseca","doi":"10.1007/s12308-023-00563-6","DOIUrl":"https://doi.org/10.1007/s12308-023-00563-6","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"26 9","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135973557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"B-lymphoblastic leukemia with transient spontaneous remission in the setting of severe group A streptococcus infection","authors":"Aubre Gilbert, Jonathan Tan, Sruti Nadimpalli, Ruzan Orkusyan, Zoila Isabel Fernandez, Jean Oak, Sebastian Fernandez-Pol","doi":"10.1007/s12308-023-00564-5","DOIUrl":"https://doi.org/10.1007/s12308-023-00564-5","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135803189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Indolent B-cell lymphoma with t(14;19) investigated from a molecular perspective","authors":"Jeremiah X. Karrs, Shivaprasad H. Sathyanarayana, Xinjie Xu, Donald C. Green, Wahab A. Kahn, Eric Y. Loo, Prabhjot Kaur","doi":"10.1007/s12308-023-00562-7","DOIUrl":"https://doi.org/10.1007/s12308-023-00562-7","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135855487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lupus erythematosus cells in a bone marrow aspirate","authors":"Jingjing Zhang, Brent Tan, Sebastian Fernandez-Pol","doi":"10.1007/s12308-023-00561-8","DOIUrl":"https://doi.org/10.1007/s12308-023-00561-8","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135829602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chronic myeloid leukaemia (CML) presenting in B-lymphoblastic crisis: a diagnostic challenge","authors":"Ke Xu, Elisabeth Nacheva","doi":"10.1007/s12308-023-00560-9","DOIUrl":"https://doi.org/10.1007/s12308-023-00560-9","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135982392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epithelioid inflammatory myofibroblastic sarcoma: a pitfall in the differential diagnosis of ALK-positive anaplastic large cell lymphoma.","authors":"Amr Fadl, Andrew L Feldman","doi":"10.1007/s12308-023-00537-8","DOIUrl":"10.1007/s12308-023-00537-8","url":null,"abstract":"<p><p>An 18-year-old female presented with a 4.5 cm abdominal mass. Biopsy showed sheet-like growth of large tumor cells with round to oval nuclei, 1-2 nucleoli, and abundant cytoplasm. Immunohistochemistry showed strong, uniform CD30 staining and cytoplasmic ALK staining. B-cell markers (CD20, CD79a, PAX5, kappa/lambda) and T-cell markers (CD2, CD3, CD4, CD5, CD43, granzyme B, T-cell receptor-β) were negative. Other hematopoietic markers (CD45, CD34, CD117, CD56, CD163, EBV) were negative, but CD138 was positive. Non-hematopoietic markers showed desmin positivity and negativity for S100, melan A, HBM45, PAX8, PAX2, WT1, MYO-D1, myogenin, pancytokeratin, and CAM5.2. Sequencing identified <i>PRRC2B::ALK</i> fusion. A diagnosis of epithelioid inflammatory myofibroblastic sarcoma (EIMS) was made. EIMS is a rare, aggressive form of inflammatory myofibroblastic tumor typically presenting in children and young adults. The tumor comprises large epithelioid cells that express ALK and often CD30. ALK-positive ALCL has a similar age range and also is a large-cell tumor expressing CD30 and ALK. Other ALK-positive neoplasms (e.g., carcinomas, ALK-positive large B-cell lymphoma, ALK-positive histiocytosis) typically lack CD30 and have distinct clinicopathologic features that aid diagnosis. Hematopathologists need to distinguish EIMS from ALK-positive ALCL, which frequently shows loss of pan-T-cell antigens. Careful morphologic evaluation for the hallmark cells of ALCL and comprehensive phenotyping are critical to avoid this diagnostic pitfall. If known, the <i>ALK</i> rearrangement partner gene may also provide diagnostic clues; for example <i>PRRC2B::ALK</i> and <i>RANBP2::ALK</i> occur in EIMS but not ALCL.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"16 2","pages":"125-126"},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10312248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9747523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coincidence of plasma cell leukemia and COVID-19: a diagnostic pitfall.","authors":"Margot Egger, Anne Black, Christoph Robier","doi":"10.1007/s12308-023-00542-x","DOIUrl":"10.1007/s12308-023-00542-x","url":null,"abstract":"<p><p>We report the case of a 66-year-old man with a known history of IgD multiple myeloma (MM) which was admitted to hospital because of acute renal failure. Routine PCR testing on admission yielded a positive result for SARS-CoV-2 infection. Examination of the peripheral blood (PB) smear revealed 17% lymphoplasmacytoid cells and a few small plasma cells mimicking morphological changes frequently seen in viral diseases. However, flow cytometric examination showed 20% clonal lambda-restricted plasma cells being consistent with a diagnosis of secondary plasma cell leukemia. Circulating plasma cells as well as similar appearing lymphocyte subtypes such as plasmacytoid lymphocytes are frequently observed in infectious disorders such as COVID-19, so that the lymphocyte morphology in our patient's case could have been easily misinterpreted as typical COVID-19-induced changes. Our observation highlights the importance of incorporating clinical, morphological, and flow-cytometric data in distinguishing between reactive and neoplastic lymphocyte changes because misinterpretation may affect disease classification and, beyond that, clinical decision-making, which may have serious consequences for patients.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"16 2","pages":"127-128"},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139089360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}