Journal of Hematopathology最新文献

{"title":"A case of true acute eosinophilic leukemia arising from myelodysplastic syndrome.","authors":"Qingyu Li, Matthew S Alkaitis, William Shomali, Gabriel N Mannis, Tian Y Zhang, Jason Gotlib, Sebastian Fernandez-Pol","doi":"10.1007/s12308-026-00719-0","DOIUrl":"10.1007/s12308-026-00719-0","url":null,"abstract":"<p><p>Acute leukemias of the myeloid lineage most commonly show myeloid and/or monocytic differentiation. Leukemias with erythroid, megakaryoblastic, and basophilic differentiation are more rare but are well documented. In contrast, acute leukemia showing marked morphologic and immunophenotypic features of eosinophilic differentiation is not a defined entity. When acute leukemias do show a prominent population of cells with eosinophilic differentiation, the eosinophil populations typically show morphologic features of mature eosinophils and the eosinophilic population may be clonally related to the neoplastic cells or may be reactive. In this case report, we describe an unusual case of acute myeloid leukemia evolving from a myelodysplastic neoplasm with low blasts in which the predominant cell population in the peripheral blood and bone marrow were cells with round nuclei and immature chromatin with prominent eosinophilic granules and immunophenotypic features suggestive of maturation arrest at an eosinophilic promyelocyte-like stage. At the time of leukemic transformation, molecular studies showed acquisition of NRAS G13R, NRAS Q61K, and KRAS G12R mutations in addition to the TET2 variants (N582fs and E1357X), del(20q), and 7q- abnormalities detected in the antecedent myelodysplastic neoplasm. No PDGFRA, PDGFRB, FGFR1, JAK2, or FLT3 rearrangements were detected by FISH or in sequencing assays. BCR::ABL1 testing was also negative. Whole-genome sequencing did not detect additional abnormalities to explain the differentiation block. In summary, this is, to our knowledge, the only reported case of an acute leukemia in which the immature cells themselves demonstrate morphologic and immunophenotypic features of eosinophilic promyelocytes.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148450444","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":"Diagnostic pitfalls and molecular insights in a rare RUNX1::TACC1-positive AML with t(8;21)(p11;q22).","authors":"Shanshan Sun, Zhi Wang, Long Chen, Xiaoqian Zhang, Yani Lin, Enbin Liu, Xin Tian, Xiaoju Hou, Shaobin Yang, Yu Zheng","doi":"10.1007/s12308-026-00718-1","DOIUrl":"https://doi.org/10.1007/s12308-026-00718-1","url":null,"abstract":"<p><p>The transforming acidic coiled-coil containing protein 1 (TACC1) gene is a recognized oncogenic driver in solid tumors through FGFR1::TACC1 fusions, but remains extremely rare in acute myeloid leukemia (AML), with only one prior case of RUNX1::TACC1 reported. Here, we describe the second documented RUNX1::TACC1 fusion AML case, occurring in an 82-year-old male with t(8;21)(p11;q22) translocation. Comprehensive molecular characterization identified four transcript variants by RNA sequencing, including a new RUNX1(E7)::TACC1(E6) isoform and reciprocal TACC1::RUNX1 fusions. Notably, initial FISH analysis misleadingly suggested FGFR1 involvement, underscoring RNA-seq's critical role in accurate rare fusion detection. While the patient showed no response to azacitidine/venetoclax, the limited number of cases precludes definitive conclusions about treatment resistance patterns. These findings expand TACC1's oncogenic spectrum to AML and warrant further investigation to determine whether RUNX1::TACC1 represents a clinically distinct molecular subtype and to elucidate its potential therapeutic vulnerabilities.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377874","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":"Utility of MEF2B immunohistochemistry in distinguishing follicular lymphoma and marginal zone lymphoma in diagnostically challenging cases.","authors":"Joanna C Dalland, Oluwayomi S Oyedeji, David S Viswanatha, Cody J Artymiuk, Matthew T Howard, Rebecca L King","doi":"10.1007/s12308-026-00717-2","DOIUrl":"10.1007/s12308-026-00717-2","url":null,"abstract":"<p><strong>Background: </strong>Distinguishing follicular lymphoma (FL) from marginal zone lymphoma (MZL) can be challenging, as the morphology and immunophenotype can overlap particularly in cases with marginal zone differentiation (MZD). MEF2B (Myocyte enhancer binding factor B) is a transcription factor that controls BCL6 expression in germinal center (GC) B-cells. Previous studies reported this stain to have a high sensitivity and specificity for FL compared to other GC markers.</p><p><strong>Purpose: </strong>We investigated the expression of MEF2B in small B cell lymphomas (SBCL) to evaluate its utility in classification of diagnostically challenging cases.</p><p><strong>Methods: </strong>Our archives were searched from 2005-2025 to identify cases of SBCL, including FL, splenic MZL (SMZL), MZL of mucosa-associated lymphoid tissue (MALT), nodal MZL (NMZL) and SBCLs that were difficult to classify upon initial diagnosis (DTC). MEF2B immunohistochemistry was performed. Next generation sequencing (NGS) was performed on a subset.</p><p><strong>Results: </strong>62 cases were evaluated: 23 FL (including 14 with MZD), 11 SMZL, 13 MALT, 4 NMZL, and 11 DTC. 21/23 FL (91%) were positive for MEF2B, including 13/14 (93%) with MZD. MEF2B expression was restricted to follicles and negative in MZD areas in 9/13 (69%), while 4 cases showed partial weak expression in MZD areas. 0/11 SMZL (0%) and 0/13 MALT (0%) were positive for MEF2B. 1/4 NMZL showed equivocal MEF2B staining, while the remaining 3 NMZL cases were negative for MEF2B. 8/11 DTC (73%) were positive for MEF2B, and the result aided further classification in 9 DTC cases. NGS further supported or refined the classification in 4/9 cases.</p><p><strong>Conclusion: </strong>MEF2B immunohistochemistry can aid in distinguishing FL from MZL in diagnostically challenging cases.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13323876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148363890","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":"Unexpected melanoma metastasis with E-cadherin expression in bone marrow.","authors":"Marco Pocci","doi":"10.1007/s12308-026-00716-3","DOIUrl":"10.1007/s12308-026-00716-3","url":null,"abstract":"<p><p>Finding an unexpected metastatic lesion in bone marrow biopsy (BMB) performed for a hematological indication can cause diagnostic issues. In a BMB performed in a patient with suspected acute leukemia evolved from a post-essential thrombocythemia myelofibrosis a group of atypical cells with E-cadherin expression was found. After careful morphological evaluation and further immunohistochemical staining, these cells were identified as a melanoma metastasis with E-cadherin expression. E-cadherin immunostain is performed frequently by hematopathologists to highlight erythroid cells but its expression can be found in a number of hematological and non-hematological neoplasms, including melanoma, which should be considered in the differential diagnosis of E-cadherin-expressing neoplasm.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148340939","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":"Spatially segregated B- and T-lymphoblasts in mixed-phenotype acute leukemia with BCR::ABL1.","authors":"Ingrid S Tam, José-Mario Capo-Chichi, Adam C Smith, Guillaume Richard-Carpentier, Daniel Xia","doi":"10.1007/s12308-026-00715-4","DOIUrl":"https://doi.org/10.1007/s12308-026-00715-4","url":null,"abstract":"<p><strong>Background: </strong>Mixed phenotype acute leukemias (MPALs) account for approximately 2-5% of acute leukemias.</p><p><strong>Purpose: </strong>We report a case of MPAL with BCR::ABL1 demonstrating striking spatial segregation of B- and T-lymphoblasts involving the bone marrow and cervical lymph node, respectively.</p><p><strong>Methods: </strong>Morphologic, immunophenotypic, and genetic characterization were performed.</p><p><strong>Results: </strong>These studies identified two distinct lineage-specific blast populations. Molecular studies demonstrated shared genetic features, supporting a common clonal origin.</p><p><strong>Conclusions: </strong>This case expands the clinicopathologic spectrum of MPALs and raises the possibility of lineage-restricted differentiation occurring in distinct tissue microenvironments.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148340944","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":"Bone marrow hemophagocytosis in patients with hematological malignancies and COVID-19 infections: mimicry or secondary HLH?","authors":"Hend A Nooh, Rasha M Abdel-Hamid, Mona S Abdellateif, Lobna Refaat, Ahmed Bayoumi, Eman Z Kandeel, Mohamed Samra, Medhat Khafagy, Mona S ElAshry","doi":"10.1007/s12308-026-00714-5","DOIUrl":"10.1007/s12308-026-00714-5","url":null,"abstract":"<p><strong>Background: </strong>Severe coronavirus disease 2019 (COVID-19) and secondary hemophagocytic lymphohistiocytosis (sHLH) share overlapping pathogenesis, symptoms, and ultimately fatal outcomes unless prompt early interventions are undertaken. The excessive immune response in COVID-19 may increase hemophagocytes in bone marrow aspirate (BMA), which could mimic sHLH.</p><p><strong>Purpose: </strong>We aimed to assess hemophagocytic cells in the BM of COVID-19 patients with hematological neoplasms and examine their link to sHLH.</p><p><strong>Methods: </strong>BMAs from 44 living COVID-19-positive patients with hematological neoplasms were examined, focusing on the presence of hemophagocytic cells. Alongside clinical and laboratory data, patients were classified into two groups according to the HLH-2004 diagnostic criteria: those meeting ≥ 4 criteria (n = 23) and those meeting < 4 criteria (n = 21). BMAs from 44 COVID-19-negative patients with similar hematological malignancies were also analyzed for comparison.</p><p><strong>Results: </strong>Hemophagocytic cells were present in 33/44 (75.0%) COVID-19-positive patients and were associated with normal and increased erythropoiesis (p = 0.044). Hemophagocytosis was significantly more frequent in COVID-19-positive than in COVID-19-negative patients (p < 0.001). Meeting ≥ 4 HLH-2004 criteria was significantly more prevalent in newly diagnosed patients than in those during follow-up/relapse (p = 0.004). Significantly higher H-scores were also observed in newly diagnosed patients compared with those in follow-up (p < 0.001). Patients with severe/critical COVID-19 or intensive care unit (ICU) admission had higher H-scores; however, the differences were not statistically significant (p = 0.509 and 0.246, respectively).</p><p><strong>Conclusion: </strong>Hemophagocytic cells are significantly observed in COVID-19 patients with hematological neoplasms, but are insufficient to support a classic diagnosis of concurrent sHLH. These findings suggest that COVID-19-associated hyperinflammation may contribute to BM hemophagocytosis in this vulnerable population.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148334356","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":"Diagnostic potential of Q-flags (RBC agglutination? and fragments?) in beta thalassemia carriers: a comparative analysis with nutritional anemias.","authors":"Muhammad Shariq Shaikh, João Marcelo Martins Nunes, Mari Kono","doi":"10.1007/s12308-026-00710-9","DOIUrl":"10.1007/s12308-026-00710-9","url":null,"abstract":"<p><strong>Introduction: </strong>Beta thalassemia carriers have hereditary anemia marked by ineffective erythropoiesis and hemolysis, leading to considerable variation in red blood cell (RBC) morphology. Automated hematology analyzers equipped with quality flags (Q-flags) can identify abnormal RBC populations. This study evaluates the diagnostic performance of two Q-flags (RBC Agglutination? and Fragments?) in differentiating beta thalassemia from common nutritional anemias.</p><p><strong>Methods: </strong>This study was conducted on complete blood count (CBC) data from 37 patients with beta thalassemia carriers and 3317 patients with nutritional anemias, including 2780 with iron deficiency anemia, 478 with vitamin B12 deficiency, and 59 with folate deficiency. All data were obtained using Sysmex hematology analyzers. The Shapiro-Wilk test assessed the distribution of data, and group comparisons were performed using the Mann-Whitney U test. Receiver operating characteristic (ROC) curve analysis was employed to determine the cutoff values of Q-flag parameters.</p><p><strong>Results: </strong>Patients with beta thalassemia demonstrated significantly lower values for Q-flag (RBC Agglutination?) and significantly higher values for Q-flag (Fragments?) compared to those with nutritional anemias. The median (interquartile range) for Q-flag (RBC Agglutination?) was 40.0 (40.0-50.0), and for Q-flag (Fragments?) it was 40.0 (20.0-60.0). Significant differences were also noted in routinely reported hematological indices such as MCV, MCH, MCHC, and MicroR%. ROC analysis revealed that cutoff value of 60.0 for Q-flag (RBC Agglutination?) and 20.0 for Q-flag (Fragments?) had reasonable sensitivity and specificity for distinguishing beta thalassemia from nutritional anemias.</p><p><strong>Conclusion: </strong>There is a possibility that both Q-flags demonstrate strong discriminatory ability for beta thalassemia carriers in comparison to nutritional anemias and serve as useful screening tools within routine hematology workflows.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13303572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148334348","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":"Splenosis of the liver: a unique clinicopathologic challenge.","authors":"Joseph Hibbert, Bradford Siegele, Changlee S Pang","doi":"10.1007/s12308-026-00713-6","DOIUrl":"10.1007/s12308-026-00713-6","url":null,"abstract":"<p><strong>Objectives: </strong>We report two rare cases of intrahepatic splenosis in patients with distant histories of abdominal trauma and highlight the diagnostic challenges splenosis can pose for clinicians, radiologists, and pathologists.</p><p><strong>Methods: </strong>Pathologic and clinical data for the patients were obtained from our institutional and referral records.</p><p><strong>Results: </strong>Patient 1 is a 44-year-old male with a history of heavy alcohol use who presented with chest pain. Imaging study revealed alcoholic steatosis and multiple liver lesions. Patient 2 is a 53-year-old female with a history of primary biliary cholangitis and chronic liver disease who was found to have multiple hepatic lesions during routine follow-up. Imaging studies in both cases raised concern for both benign and malignant processes. Biopsies demonstrated prominent congested thin-walled vascular structures, scant fibrous stroma, and background lymphocytic infiltrates. Immunohistochemistry (IHC) for ERG, CD31, and CD8 highlighted the endothelial cells of the vascular structures, phenotypically consistent with littoral cells of splenic sinuses. Further review of the clinical history revealed remote traumatic motor vehicle accidents resulting in splenectomy in both patients. After clinical, radiologic, and pathologic correlation, the diagnosis of splenosis was made in both cases.</p><p><strong>Conclusions: </strong>Our cases highlight the distinctive clinical history and characteristic histologic and immunophenotypic features essential for diagnosing splenosis.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148310289","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":"Polymorphic EBV-positive post-transplant lymphoproliferative disorder of the colon mimicking EBV-positive mucocutaneous ulcer: a case report.","authors":"McKenzie Wallace, Alicia Dessain, Soumya Mikkilineni, Richard D Hammer","doi":"10.1007/s12308-026-00712-7","DOIUrl":"10.1007/s12308-026-00712-7","url":null,"abstract":"<p><strong>Background: </strong>Epstein-Barr virus (EBV)-driven lymphoproliferative disorders (LPDs) are important complications of post-transplant immunosuppression. EBV-positive mucocutaneous ulcer (EBV-MCU) is typically a localized, solitary, sharply circumscribed ulcer with an indolent clinical course, whereas post-transplant lymphoproliferative disorder (PTLD) may be multifocal, disseminated, and life-threatening; however, these entities can overlap histologically on limited gastrointestinal biopsies.</p><p><strong>Case presentation: </strong>We report a 60-year-old woman with autoimmune hepatitis/primary sclerosing cholangitis (PSC) status-post liver transplantation (2017; re-transplant 2019 for recurrent PSC) who presented with diarrheal illness and subsequently developed gastrointestinal bleeding. Imaging showed enterocolitis with periportal/mesenteric lymphadenopathy, and endoscopy demonstrated severe colitis with multiple superficial ulcers, without a mass lesion. Biopsies revealed severe active ileocolitis with ulceration and an atypical EBV-positive B cell proliferation (CD20/PAX5+, MUM1+, variably CD30+, EBV-LMP1+; polytypic light chains). The differential diagnosis included EBV-MCU and PTLD -  although the superficial ulcerative pattern and absence of a mass initially raised consideration of EBV-MCU, the presence of multiple ulcers and lack of classic EBV-MCU histologic features favored EBV-positive polymorphic PTLD.</p><p><strong>Management and results: </strong>Later, a PET-CT demonstrated extensive FDG-avid lymphadenopathy above and below the diaphragm with splenic and adrenal involvement, supporting disseminated EBV-positive PTLD and prompting rituximab-based chemotherapy.</p><p><strong>Conclusion: </strong>This case highlights the practical challenges of classifying EBV-positive ulcerative gastrointestinal lesions on small biopsies and underscores the need for radiologic and clinical correlation and close follow-up when EBV-MCU and PTLD are both plausible.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13264546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148254263","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":"Crystalline inclusions in myeloid precursors.","authors":"Marco P Barros Pinto","doi":"10.1007/s12308-026-00711-8","DOIUrl":"10.1007/s12308-026-00711-8","url":null,"abstract":"<p><p>Crystalline inclusions have been reported in macrophages, plasma cells, chronic lymphocytic leukemia, B-cell acute lymphoblastic leukemia, and rarely in myeloid precursors. The presence of crystalline inclusions in myeloid cells may be a feature of aggressive myeloid neoplasm.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148220427","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}