Journal of Hematopathology最新文献

{"title":"A rare diffuse follicular lymphoma with TP53 mutation and copy-neutral loss of heterozygosity at 1p36: insights into diagnosis, disease progression, and literature review.","authors":"Mitra Abdolahi, Phassawan Rungsiprakarn, Ahmed Lazim, Pei Jianming, Nicholas Mackrides, Reza Nejati","doi":"10.1007/s12308-026-00683-9","DOIUrl":"10.1007/s12308-026-00683-9","url":null,"abstract":"<p><strong>Background: </strong>Follicular lymphoma (FL) is a common type of non-Hodgkin lymphoma typically characterized by a nodular growth pattern and the t(14;18) translocation. A rare variant, FL with a predominantly diffuse growth pattern (dFL), lacks this translocation, demonstrates diffuse architecture, and is frequently associated with deletion of 1p36.</p><p><strong>Case presentation: </strong>We report the case of a 43-year-old man who presented with an inguinal mass and was diagnosed with follicular lymphoma showing a predominantly diffuse pattern. Fluorescence in situ hybridization (FISH) analysis was negative for both BCL2 rearrangement and TNFRSF14 (1p36) deletion. Chromosomal microarray (CMA) and next-generation sequencing (NGS) were subsequently performed for further molecular characterization.</p><p><strong>Results: </strong>CMA revealed copy-neutral loss of heterozygosity (cnLOH) at 1p36 and additional abnormalities involving 16p that were not detectable by FISH. NGS identified a TP53 mutation, a finding not previously reported in dFL and typically associated with more aggressive lymphoma behavior. Although dFL is generally considered an indolent and localized disease, the patient developed axillary recurrence within 1 year, requiring radiation therapy.</p><p><strong>Conclusion: </strong> These findings underscore the importance of comprehensive molecular testing, such as NGS and CMA, to refine prognostic assessment and guide personalized treatment strategies for this rare lymphoma variant.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345699","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":"The importance of bone marrow biopsy for chronic myeloid leukemia classification-a case report.","authors":"Natália Vital Gonçalves, Herton Luiz Alves Sales Filho, João Paulo Cabral de Magalhães Gomes, Guilherme Brasil Duffles Amarante, Gislaine Borba de Oliveira, Irene Lorand-Metze, Kátia Borgia Barbosa Pagnano, Guilherme Rossi Assis-Mendonça","doi":"10.1007/s12308-026-00684-8","DOIUrl":"10.1007/s12308-026-00684-8","url":null,"abstract":"<p><p>Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the BCR::ABL1 rearrangement, usually diagnosed by data of peripheral blood, bone marrow cytology, cytogenetics, and the detection of the BCR:ABL1 rearrangement. An accurate diagnosis, including the precise phase of the disease, is essential to guide appropriate treatment. We present the case of a patient admitted at our Institution with the hypothesis of CML in chronic phase, based on clinical and bone marrow cytological findings. Bone marrow biopsy showed some areas with morphologic features of CML in chronic phase but also sheets of B lymphoblasts, compatible with lymphoid blast crisis. Flow cytometry detected 1.18% of lymphoblasts. This report clearly illustrates the importance of the examination of bone marrow by several techniques. It highlights the importance of the biopsy in recognizing anomalous immunomorphological patterns, which can lead to diagnostic and therapeutic changes in CML.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12946378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147312126","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":"Morphologic findings and mutational profiles of myelodysplastic neoplasms with normal versus abnormal karyotype.","authors":"Jyoti Kumar, Alexandria Jensen, Rong Lu, Vishesh Khanna, Henning Stehr, Michael Spinner, Sebastian Fernandez-Pol, Peter L Greenberg, Brent Tan","doi":"10.1007/s12308-026-00686-6","DOIUrl":"https://doi.org/10.1007/s12308-026-00686-6","url":null,"abstract":"<p><strong>Background: </strong>Myelodysplastic syndromes are clonal bone marrow failure disorders demonstrating variable degrees of cytopenias, morphologic dysplasia, and risk of progression to acute myeloid leukemia.</p><p><strong>Purpose: </strong>We hypothesized that MDS with a normal karyotype (NK) would exhibit a unique mutational or morphologic signature.</p><p><strong>Methods: </strong>We investigated the morphologic features and genetic profiles of 89 patients with myelodysplastic syndrome (MDS), including 42 with a NK and 47 with an abnormal karyotype (non-NK). We used next-generation sequencing (NGS) to detect pathogenic variants and performed morphologic review by two independent hematopathologists in a blinded manner with a nested set of 43 control cases.</p><p><strong>Results: </strong>NK and non-NK cases showed similar levels of dysplasia in granulocytes and erythroids, but non-NK cases showed significantly more dysplasia in megakaryocytes (P = 0.037). The mutational burden was similar between NK and non-NK cases. TET2 and SF3B1 mutations were more frequent in NK cases (P = 0.029 and P = 0.013, respectively), and TP53 mutations were more frequent in non-NK cases (P = 0.007). Overall, higher mutational burden was associated with higher levels of megakaryocyte dysplasia (P = 0.003), but there was no association with granulocytic or erythroid dysplasia. Cases with STAG2 mutations were associated with higher overall megakaryocyte dysplasia (P = 0.0016) and proportion of megakaryocytes with separate nuclear lobes (P < 0.0001).</p><p><strong>Conclusions: </strong>The megakaryocyte lineage is the most expressive in terms of reflecting morphologic dysplasia due to cytogenetic or molecular abnormalities. MDS with NK shows similar morphologic features to non-NK cases, but our findings suggest that non-NK cases exhibit higher levels of megakaryocytic dysplasia.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146259971","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":"A case of transient monoclonal plasma cell aberrancy following respiratory syncytial virus (RSV) vaccination.","authors":"James McHenry, Dmitrii Vozniuk, Aleksandr Romanov, Larisa Erikson, Faisal Rawas, Yaroslav Chernov, Aakash Fnu, Shukhrat A Abdukhalikov, Ariel Rischall, Kirill A Lyapichev","doi":"10.1007/s12308-026-00685-7","DOIUrl":"https://doi.org/10.1007/s12308-026-00685-7","url":null,"abstract":"<p><p>Plasma cell neoplasms include a spectrum of disorders ranging from monoclonal gammopathy of undetermined significance to multiple myeloma, defined by clonal plasma cell proliferation and production of monoclonal immunoglobulins. However, transient monoclonal plasma cell expansions without neoplastic features are rarely documented. Herein, we report a 77-year-old female patient with a history of stage IVa high-grade serous carcinoma of the ovary who was found to have leukocytosis and 22% circulating monoclonal plasma cells during routine preoperative testing, 4 days after receiving the RSV vaccine. Flow cytometry demonstrated lambda-restricted plasma cells expressing CD19+, CD27+, CD38+, CD56-, and CD138+. Serum protein electrophoresis and immunofixation were unremarkable, with a normal κ/λ ratio and absence of M-protein. Repeat flow cytometry 6 days later revealed normalization to polyclonal plasma cells. No clinical or biochemical evidence supported a plasma cell neoplasm, and bone marrow biopsy was postponed. This case underscores the need for clinical awareness of post-vaccination immunologic phenomena that may mimic plasma cell neoplasm. Recognition of such transient aberrancies can prevent unnecessary invasive investigations and broaden understanding of vaccine-induced immune dynamics.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":"5"},"PeriodicalIF":0.6,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146214996","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":"Leukemic appendix with clinical presentation that mimics acute appendicitis.","authors":"Oren Weiss, Yanhua Wang","doi":"10.1007/s12308-026-00681-x","DOIUrl":"10.1007/s12308-026-00681-x","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is a malignant neoplasm characterized by the uncontrolled, clonal growth of hematopoietic cells. It is the most common acute leukemia in adults, with a median age at diagnosis of 69 years and an incidence of 4.2 cases and mortality of 2.7 per 100,00 people per year in the USA, as reported by SEER (2025) and Shallis et al. (Blood Rev 36:70-87, 2019). With the advent of more detailed molecular studies, next-generation sequencing, and novel therapies, the prognosis for patients with AML has significantly improved, as discussed by Shimony et al. (Am J Hematol 98(3):502-526, 2023). However, there are numerous complications of treatment and progression of disease that can affect patients' quality of life and overall survival, as detailed by Khwaja et al. (Nat Rev Dis Primer 2(1):1-22, 2016). Below, we describe an unusual complication of AML in a woman who previously achieved complete remission.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":"4"},"PeriodicalIF":0.6,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12876070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127293","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":"B-cell acute lymphoblastic leukemia following myelodysplastic syndromes: a case report and literature review.","authors":"Hanyi Ding, Weiying Feng, Hongqiang Luo, Jing Jin","doi":"10.1007/s12308-026-00680-y","DOIUrl":"https://doi.org/10.1007/s12308-026-00680-y","url":null,"abstract":"<p><p>Myelodysplastic syndromes (MDS) comprise clonal hematopoietic stem cell disorders characterized by heterogeneous clinical manifestations. Approximately 20-30% of MDS cases progress to acute myeloid leukemia, whereas transformation to acute lymphoblastic leukemia (ALL) is extremely rare. In this report, we present the case of a Chinese male patient who presented with MDS-refractory anemia with ringed sideroblasts, which developed into B-cell ALL. During disease transformation, the patient acquired novel gene mutations. By comparing the gene mutations identified at the initial MDS diagnosis with those observed at the time of transformation to ALL, we aim to elucidate the genetic alterations associated with disease progression. Furthermore, we provide a comprehensive review of 60 MDS and MDS/MPN cases reported in the literature so far.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":"3"},"PeriodicalIF":0.6,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146121014","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":"A pleura-based follicular dendritic cell sarcoma with epithelioid morphology and aberrant expression of cytokeratins.","authors":"Amy Rousselot, Jeffrey T Schowinsky, Zenggang Pan","doi":"10.1007/s12308-026-00679-5","DOIUrl":"10.1007/s12308-026-00679-5","url":null,"abstract":"<p><strong>Background: </strong>Follicular dendritic cell sarcoma (FDCS) is a rare mesenchymal neoplasm arising from the follicular dendritic cells (FDC) of lymphoid follicles. FDCS can be found in nodal and extranodal sites.</p><p><strong>Purpose: </strong>In this report, we present an unusual case of pleura-based FDCS with epithelioid cytology and aberrant expression of cytokeratins, including discussion of differential diagnosis.</p><p><strong>Methods: </strong>A comprehensive panel of immunohistochemical (IHC) stains was performed. Additionally, fluorescence in situ hybridization, allele-specific quantitative polymerase chain reaction, and next-generation sequencing assays were utilized to detect somatic gene mutations and potential fusions.</p><p><strong>Results: </strong>This case of FDCS reveals predominantly epithelioid cytology with a focal spindle cell component. Upon IHC staining, both the epithelioid and spindle cells are positive for FDC markers, including CD21, CD23, CD35, clusterin, CXCL13, and podoplanin. Particularly, both components show aberrant expression of cytokeratin (CK) AE1/3 and CAM5.2. Molecular genetic studies detected a splice site alteration of RB1 gene without other significant changes.</p><p><strong>Conclusions: </strong>FDCS is a rare neoplasm with variable morphologic and staining patterns. To the best of our knowledge, this is the first reported instance of pleura-based FDCS with epithelioid morphology and aberrant expression of cytokeratins. Diagnosis of such cases can be challenging, which has to be separated from the morphologic mimicries, particularly carcinoma and mesothelioma.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":"2"},"PeriodicalIF":0.6,"publicationDate":"2026-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145971566","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":"Rare CD138 negative plasma cell leukemia with pleomorphic morphology-CD319 to the rescue when traditional markers fail.","authors":"Richa Chauhan, Selvan P, Jasmita Dass, Pradeep Kumar, Manoranjan Mahapatra","doi":"10.1007/s12308-025-00677-z","DOIUrl":"10.1007/s12308-025-00677-z","url":null,"abstract":"<p><strong>Background: </strong>Flow cytometric identification of plasma cells can be confounded by therapeutic anti-CD38 antibodies, a phenomenon commonly encountered during measurable residual disease (MRD) assessment after chemo/immunotherapy. Less frequently, loss of plasmacell gating markers may occur due to the disease process itself. In low-resource settings, diagnostic and MRD flow cytometry panels are tailored for cost-effective use of CD markers. At baseline diagnosis, CD38, CD138, and CD45 are usually sufficient as backbone plasma-cell gating markers, and alternate markers are not routinely required.</p><p><strong>Case description: </strong>We present a case of plasma cell leukemia in which standard diagnostic flow cytometry panels were challenged by variable CD138 expression. Given the difficulty in identifying plasma cells using conventional markers, an expanded flow cytometry panel incorporating antibody CD319 (SLAMF7) was employed.</p><p><strong>Results: </strong>The inclusion of CD319 enabled reliable detection of clonal plasma cells despite predominant loss of CD138 expression. This approach allowed identification of circulating malignant plasma cells outside the setting of therapeutic anti-CD38 antibody interference.</p><p><strong>Conclusion: </strong>Use of alternate plasma-cell gating markers beyond the conventional backbone can be critical even in upfront diagnostic settings. Incorporating multiple, non-overlapping plasma-cell markers-including antibodies designed to avoid therapeutic masking-improves plasma-cell detection in both MRD assessment and initial diagnostic flow cytometry panels.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":"1"},"PeriodicalIF":0.6,"publicationDate":"2025-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145794523","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":"Acute myeloid leukemia with bipotential erythroid and megakaryocytic differentiation: a case series and literature review.","authors":"Li-Wei Liu, Shanelle J De Lancy, Stephanie N Hurwitz","doi":"10.1007/s12308-025-00678-y","DOIUrl":"10.1007/s12308-025-00678-y","url":null,"abstract":"<p><strong>Background: </strong>Acute myeloid leukemia with erythroid and megakaryocytic differentiation (AML-EMD) is a rare and aggressive presentation of AML characterized by overlapping morphologic, immunophenotypic, and genetic features of erythroid and megakaryocytic lineages. The classification, pathogenesis, and clinical behavior of this entity remain poorly defined.</p><p><strong>Methods: </strong>We report a series of three patients in conjunction with a systematic review of reported cases in published literature with AML-EMD.</p><p><strong>Results: </strong>Cytogenetic and molecular studies revealed frequent abnormalities including complex karyotypes, TP53 mutations, and JAK1/2 mutations. Clinically, patients demonstrated a poor-risk profile.</p><p><strong>Conclusions: </strong>Collective phenotypic and genetic features suggest that AML-EMD represents a high-risk subgroup of either TP53-mutated AML or AML with myelodysplasia-related genetics, likely reflecting leukemic transformation from multipotent progenitors retaining erythro-megakaryocytic potential. Despite shared biologic features, current classification systems for AML-EMD are diagnostically incongruent. Recognition of this entity will allow for consistent subclassification, prognostication, and future studies aimed at defining its molecular underpinnings and therapeutic vulnerabilities.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"62"},"PeriodicalIF":0.6,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12712107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776634","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":"Immunohistochemical evaluation of T cell receptor and T cell receptor beta constant 1 expression distinguishes benign and neoplastic immature T-cell populations and reveals discrete TRBC1/TCR phenotypes.","authors":"Sahil Chaudhary, Elizabeth L Courville, Jeffrey Craig, Vanessa Smith, Margaret Moore","doi":"10.1007/s12308-025-00674-2","DOIUrl":"10.1007/s12308-025-00674-2","url":null,"abstract":"<p><strong>Background: </strong>Expression of TRBC1 and TRBC2 is increasingly assessed in the evaluation for clonal T-cell populations. While flow cytometry has repeatedly shown utility in evaluating TRBC 1/2 expression, immunohistochemical (IHC) methods have not been extensively examined, particularly in immature T-cell populations.</p><p><strong>Purpose: </strong>This study evaluated TRBC1 IHC staining in formalin-fixed paraffin-embedded (FFPE) tissue, encompassing benign thymic tissue, thymomas, and T-lymphoblastic leukemias/lymphomas (T-LL).</p><p><strong>Methods: </strong>IHC for TRBC1, CD3, TCR-BF1, and TCR-δ was performed in all cases; TdT was performed on all T-LLs. TRBC1 was scored as positively restricted (≥ 85%), negatively restricted (≤ 15%), or polytypic (16-84%) in T cells, using CD3 and/or TdT staining as the denominator.</p><p><strong>Results: </strong>All thymic tissues (n = 6) and thymomas (n = 5) showed polytypic TRBC1 staining patterns. Twenty-four T-LL specimens were identified from 21 patients, including bone marrow (n = 16), lymph node (n = 7), and bone (n = 1) biopsies. All T-LL cases showed positively (n = 3 patients, 14%) or negatively (n = 18 patients, 86%) restricted TRBC1 expression. Patients with multiple specimens showed consistent TRBC1 staining across tissue sites and sampling time points. Coexpression analysis of TRBC1, TCR-BF1, and TCR-δ staining revealed frequent TRBC1-negative cases with either TCR-δ + (n = 6, 29%) or TCR null (n = 7, 33%) phenotypes. TRBC1 IHC restriction and molecular methods for clonality assessment were concordant in 13 of 15 evaluated cases (87%).</p><p><strong>Conclusions: </strong>T-LL showed restricted patterns of TRBC1 expression by IHC, whereas benign immature T-cell populations showed polytypic staining. The observed TCR and TRBC1 phenotypes of T-LL are distinct from those of mature T-cell neoplasms and warrant further study.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"61"},"PeriodicalIF":0.6,"publicationDate":"2025-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12701855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145752473","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}