Journal of Hematopathology最新文献

Plasmablastic plasmacytoma followed by a plasmacytic plasma cell myeloma: insights into discordant extramedullary transformation-a case report and literature review. 浆母浆细胞瘤继发浆母浆细胞骨髓瘤：对不一致髓外转化的见解-一个病例报告和文献回顾。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-24 DOI: 10.1007/s12308-025-00651-9

Mitra Abdolahi, Osvaldo Padilla, Sandeep S Dave, Devang Thakkar, Reza Nejati

{"title":"Plasmablastic plasmacytoma followed by a plasmacytic plasma cell myeloma: insights into discordant extramedullary transformation-a case report and literature review.","authors":"Mitra Abdolahi, Osvaldo Padilla, Sandeep S Dave, Devang Thakkar, Reza Nejati","doi":"10.1007/s12308-025-00651-9","DOIUrl":"https://doi.org/10.1007/s12308-025-00651-9","url":null,"abstract":"Plasma cell neoplasms encompass a spectrum of disorders characterized by the clonal proliferation of plasma cells. Plasmablastic transformation in these neoplasms poses diagnostic and clinical challenges due to its aggressive nature and morphological overlap with other malignancies, including plasmablastic lymphoma (PBL). We report a case of discordant extramedullary plasmablastic transformation in a 55-year-old HIV-negative female presenting with an oral lesion diagnosed as plasmablastic plasmacytoma. Initial imaging indicated localized disease without systemic involvement. Despite undergoing chemotherapy and achieving a partial response, the patient developed osteolytic lesions 2 years later. Subsequent pathology evaluation confirmed mature plasma cell myeloma (PCM) morphology. Whole exome sequencing (WES) and whole RNA expression analysis revealed shared mutations (PTPN13, KRAS, LTK) and a MYC::BMP6 translocation in both lesions, supporting a clonal relationship. Additionally, the oral plasmablastic lesion revealed a KLHL6 mutation and an extra MYC::IGL translocation, which were absent in the tibial lesion. The KLHL6 mutation has not been previously reported in studies of discordant extramedullary plasmacytoma with plasmablastic transformation. This case highlights the diagnostic complexity of plasmablastic plasmacytoma presenting as the initial manifestation of plasma cell myeloma. It underscores the necessity of a thorough evaluation, including bone marrow biopsy, to accurately differentiate plasmablastic transformation from PBL and ensure accurate diagnosis and appropriate management.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"35"},"PeriodicalIF":0.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709785","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}

引用次数: 0

Discovery of a germline IKZF1 deletion in a B-lymphoblastic leukemia post-induction bone marrow specimen: a case report and review of the literature. 在b淋巴细胞白血病诱导后骨髓标本中发现种系IKZF1缺失：一个病例报告和文献回顾。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-15 DOI: 10.1007/s12308-025-00648-4

Sharri Cyrus, Arun R Panigrahi, Alexia P Monahan, Ananya Datta Mitra, Reid G Meyer, Nicole L Hoppman, Patricia T Greipp, Linda B Baughn, Jess F Peterson

引用次数: 0

Masked by eosinophils: a cryptic presentation of pediatric B-ALL with IGH rearrangement. 被嗜酸性粒细胞掩盖：儿童B-ALL伴IGH重排的隐蔽性表现。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-14 DOI: 10.1007/s12308-025-00649-3

Parimal Sarda, Himil Parikh, Sandip Shah, Deepa Trivedi

{"title":"Masked by eosinophils: a cryptic presentation of pediatric B-ALL with IGH rearrangement.","authors":"Parimal Sarda, Himil Parikh, Sandip Shah, Deepa Trivedi","doi":"10.1007/s12308-025-00649-3","DOIUrl":"10.1007/s12308-025-00649-3","url":null,"abstract":"Hypereosinophilia is uncommon in the pediatric population and may be associated with either primary or secondary conditions. In a very small proportion of cases (less than 1%), it forms part of the initial presentation of acute lymphoblastic leukemia (ALL). More frequently, hypereosinophilia appears before overt leukemia symptoms develop, which can delay diagnosis and place affected children at increased risk due to the lack of early intervention. We recently reviewed a case of 6½-year-old female who presented with hypereosinophilia and no circulating blasts. Bone marrow aspirate showed significant prominence of eosinophils and their precursors with ~ 2% blasts on morphology. Bone marrow biopsy was received for review and showed a significant burden of immature cells/blasts which on immunohistochemistry was revealed as B-acute lymphoblastic leukemia (B-ALL). Cytogenetics by fluorescence in situ hybridization (FISH) showed IGH rearrangement while the routine karyotyping as well as next-generation sequencing (NGS) were both negative for any genetic aberrancy. This case highlights the importance of a thorough marrow evaluation in pediatric eosinophilia and discusses the challenges in identifying cryptic rearrangements that are not evident on standard cytogenetic and molecular panels.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"33"},"PeriodicalIF":0.6,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627702","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}

引用次数: 0

Granulomas in bone marrow: is it always tuberculosis? 骨髓肉芽肿：一定是肺结核吗？

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-11 DOI: 10.1007/s12308-025-00647-5

Erna Ahsan, Shalini Singh, Saurabh Kumar Gautam, Harish Chandra, Priyavadhana Balasubramanian, Arvind Kumar Gupta, Neha Singh

{"title":"Granulomas in bone marrow: is it always tuberculosis?","authors":"Erna Ahsan, Shalini Singh, Saurabh Kumar Gautam, Harish Chandra, Priyavadhana Balasubramanian, Arvind Kumar Gupta, Neha Singh","doi":"10.1007/s12308-025-00647-5","DOIUrl":"https://doi.org/10.1007/s12308-025-00647-5","url":null,"abstract":"Granulomas in a bone marrow biopsy are like gold dust. Numerous studies have reported that the incidence of granulomas in bone marrow biopsies ranges from 0.3 to 2.2%. In developing countries such as India, tuberculosis is the most common cause of bone marrow granulomas; nonetheless, the etiologic spectrum includes a broad range of disorders. To better understand granulomatous inflammation in the bone marrow and prevent its misinterpretation, this study aims to highlight the variety of disorders, including infectious and non-infectious causes, that are linked to this finding. This is a retrospective study which was conducted in the Department of Pathology and Laboratory Medicine at All India Institute of Medical Sciences, Rishikesh. Bone marrow biopsies with granulomatous inflammation reported over a period of 3 years, from 2022 to 2024, were reviewed for their clinical and laboratory features and included in this study. We identified 22 cases among 3485 bone marrow biopsies, representing an incidence of 0.63% in the series. Among the 22 patients, the most common etiology was infectious (59.1%), followed by malignancy (36.34%), and sarcoidosis (4.5%). Marrow granulomas should prompt a thorough investigation into the underlying cause. It is hoped that this article would help in guiding the investigation for potential causes.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"32"},"PeriodicalIF":0.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610283","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}

引用次数: 0

Unicentric Castleman disease following POEMS syndrome remission. POEMS综合征缓解后的单中心Castleman病。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-10 DOI: 10.1007/s12308-025-00646-6

Sovijja Pou, Shelby Smith, John L Reagan

{"title":"Unicentric Castleman disease following POEMS syndrome remission.","authors":"Sovijja Pou, Shelby Smith, John L Reagan","doi":"10.1007/s12308-025-00646-6","DOIUrl":"https://doi.org/10.1007/s12308-025-00646-6","url":null,"abstract":"POEMS syndrome is a rare paraneoplastic disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes. Although Castleman disease (CD) is observed in up to 30% of POEMS cases, it is typically of the multicentric subtype (MCD) and identified during the initial diagnostic workup. Unicentric Castleman disease (UCD), by contrast, is rarely associated with POEMS and has not been previously reported following POEMS remission. We present the case of a 39-year-old woman who was diagnosed with POEMS syndrome based on clinical, radiographic, and histopathologic findings, including an IgA lambda-restricted plasma cell neoplasm, sclerotic bone lesions, thrombocytosis, and markedly elevated VEGF levels. She achieved clinical and biochemical remission after 17 cycles of daratumumab, cyclophosphamide, bortezomib, and dexamethasone. Eighteen months later, she developed a tender inguinal lymph node with no systemic signs of relapse. Excisional biopsy revealed histopathologic features consistent with UCD, including IgA lambda-restricted plasma cells, alternating hyperplastic and atretic follicles, and a \"lollipop\" lesion. To our knowledge, this is the first reported case of UCD arising after remission of POEMS syndrome. The presence of clonally restricted plasma cells within the lymph node, matching the original neoplastic clone, raises the possibility of localized residual disease rather than a de novo process. This case highlights the need for ongoing vigilance in POEMS patients, as late-onset lymphoproliferative disorders such as UCD may emerge in the absence of traditional disease markers or systemic relapse.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"31"},"PeriodicalIF":0.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602224","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}

引用次数: 0

EGLN1-positive familial erythrocytosis: a rare variant with an unusually aggressive clinical course. egln1阳性家族性红细胞增多症：一种罕见的变体，具有异常侵袭性的临床过程。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-08 DOI: 10.1007/s12308-025-00645-7

Laura Maule, Brielle Coe, Rishi Sawhney

引用次数: 0

A novel homozygous frameshift mutation (p.Lys365Glnfs*69) in a family with hereditary factor XII deficiency: a case report. 遗传因子XII缺乏症家族中一个新的纯合移码突变（p.Lys365Glnfs*69）：一个病例报告。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-07 DOI: 10.1007/s12308-025-00644-8

Cao Li, Lin Chen, Jintu Lou, Zhaoyang Peng

引用次数: 0

Evaluation of CD200 marker variations and its correlation with clinicopathological features of chronic lymphocytic leukemia patients: a case-control study. 慢性淋巴细胞白血病患者CD200标志物变异及其与临床病理特征的相关性评估：一项病例对照研究

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-07-01 DOI: 10.1007/s12308-025-00643-9

Maryam Valibeigi, Faezeh Gharehchahi, Tahereh Kalantari, Reza Ranjbaran, Gholamreza Rafie Dehbidi, Mani Ramzi, Sedigheh Sharifzadeh

{"title":"Evaluation of CD200 marker variations and its correlation with clinicopathological features of chronic lymphocytic leukemia patients: a case-control study.","authors":"Maryam Valibeigi, Faezeh Gharehchahi, Tahereh Kalantari, Reza Ranjbaran, Gholamreza Rafie Dehbidi, Mani Ramzi, Sedigheh Sharifzadeh","doi":"10.1007/s12308-025-00643-9","DOIUrl":"https://doi.org/10.1007/s12308-025-00643-9","url":null,"abstract":"Given its strong correlation with disease progression and risk stratification, CD200 has emerged as a pivotal biomarker in chronic lymphocytic leukemia (CLL). Elevated CD200 expression, strongly linked to CLL progression, underscores its diagnostic and therapeutic potential. In this case-control study, we evaluated CD200 expression levels in CLL patients and analyzed their correlation with key clinicopathological features, investigating its potential as a critical biomarker for diagnosis and follow-up strategies. Peripheral blood samples from 27 CLL patients and five healthy individuals were stained by fluorochrome-conjugated antibodies against CD19 and CD200 markers, followed by flow cytometry. Data analysis compared CD200 expression levels among CLL patients at four stages and in the healthy control group. CD200 expression levels in CLL patients' lymphocytes significantly exceeded those observed in the healthy control group (P < 0.0001). Within the patient group, expression levels progressively increased from low-risk to high-risk classifications, with statistically significant differences between each category (P < 0.0001). Furthermore, a strong positive association was identified between CD200 expression and disease clinical stage (r = 0.758, P < 0.0001), WBC count (r = 0.705, P < 0.0001), and lymphocyte percentage (r = 0.544, P = 0.009). Conversely, a strong inverse correlation was observed with neutrophil count (r = - 0.55, P = 0.008). Overall, CD200 assessment may serve as a valuable prognostic marker in CLL, providing insight into disease progression and aiding in treatment monitoring.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"28"},"PeriodicalIF":0.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546071","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}

引用次数: 0

Primary myelofibrosis with concurrent MPL and atypical JAK2 mutations. 原发性骨髓纤维化伴MPL和非典型JAK2突变。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-06-04 DOI: 10.1007/s12308-025-00642-w

Subit Barua, Cara Randall, David Howell, Gustavo Torres, Ramakrishnan Sasi, Sharathkumar Bhagavathi, Peter L Perrotta

{"title":"Primary myelofibrosis with concurrent MPL and atypical JAK2 mutations.","authors":"Subit Barua, Cara Randall, David Howell, Gustavo Torres, Ramakrishnan Sasi, Sharathkumar Bhagavathi, Peter L Perrotta","doi":"10.1007/s12308-025-00642-w","DOIUrl":"10.1007/s12308-025-00642-w","url":null,"abstract":"Distinct bone marrow morphology is considered the primary basis for the diagnosis of BCR::ABL1-negative myeloproliferative neoplasms (MPNs). However, presence of a mutually exclusive classical driver mutation in JAK2, CALR, or MPL aids in diagnosing and determining the prognosis of polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Few recent studies have reported presence of dual mutations in MPNs and double mutations in patients with PMF have been rarely described. We present two PMF patients with concurrent MPL and atypical JAK2 mutations. Patient-P1 harbored MPL: p.W515L and JAK2: p.R867Q mutations and exhibited morphologic and clinical features consistent with PMF, overt fibrotic stage. Patient-P2 harbored MPL: p.W515L, JAK2: p.R683S, and ASXL1: p.G660Rfs*9 and presented with features consistent with PMF, early fibrotic phase. Both patients initially presented with isolated, increasing thrombocytosis, and never displayed the leukocytosis seen in many PMF cases. These cases highlight dynamic emergence of these co-mutations during MPN development and progression. They also illustrate the utility of broad molecular profiling in detecting canonical and atypical oncogenic mutations across genetically heterogeneous MPN that could assist in selecting treatment approaches to improve clinical outcomes.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"27"},"PeriodicalIF":0.6,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144227505","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}

引用次数: 0

CD5-positive B-cell acute lymphoblastic leukemia/lymphoma with MEF2D::BCL9 mimicking aggressive mature B-cell lymphoma: a case report of a newly described entity and potential diagnostic pitfall. cd5阳性b细胞急性淋巴细胞白血病/淋巴瘤伴MEF2D::BCL9模拟侵袭性成熟b细胞淋巴瘤：一个新描述的实体和潜在诊断缺陷的病例报告

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2025-05-13 DOI: 10.1007/s12308-025-00640-y

Dietrich Werner Idiaquez, Leidy L Isenalumhe, Elizabeth M Hyjek, Rohit Sharma, Hammad Tashkandi, Christopher B Ryder, Mohammad Hussaini

{"title":"CD5-positive B-cell acute lymphoblastic leukemia/lymphoma with MEF2D::BCL9 mimicking aggressive mature B-cell lymphoma: a case report of a newly described entity and potential diagnostic pitfall.","authors":"Dietrich Werner Idiaquez, Leidy L Isenalumhe, Elizabeth M Hyjek, Rohit Sharma, Hammad Tashkandi, Christopher B Ryder, Mohammad Hussaini","doi":"10.1007/s12308-025-00640-y","DOIUrl":"10.1007/s12308-025-00640-y","url":null,"abstract":"Here, we present a challenging diagnostic case of a B-cell acute lymphoblastic leukemia (B-ALL) presenting as a rare extramedullary and extranodal presentation without bone marrow or peripheral blood involvement, also classified as B-cell lymphoblastic lymphoma (B-LBL). Our case demonstrated a lack of expression for typical immature B-ALL markers CD34, TdT, and CD99 and instead showed positive expression for CD5, SOX11, BCL-6, and c-MYC, which are markers more often seen in mature aggressive B-cell lymphomas. A distinction between B-ALL and the aggressive B-cell lymphomas, high-grade B-cell Lymphoma (HGBL), and mantle cell lymphoma (MCL), which can show a blastoid morphology, could not be made based on our immunohistochemistry (IHC), flow cytometry, and FISH studies. The diagnosis of B-ALL in our case eventually required extensive molecular methods, with next generation sequencing (NGS)-based DNA and RNA fusion genomic profiling studies to achieve an accurate diagnosis and classification. The molecular studies identified a positive MEF2D::BCL9 gene fusion, a recently described rare abnormality in high-risk B-ALL. These rare B-ALL cases with a MEF2D::BCL9 gene fusion have been categorized as specific B-ALL subtypes in the newest World Health Organization (WHO) 5th edition classification of hematolymphoid tumors and lymphoid neoplasms. We want to share the challenges we faced in making this new diagnosis and the results of our studies, since complete expression profiles for this rare entity have not yet been extensively described.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"18 1","pages":"26"},"PeriodicalIF":0.6,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031378","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}

引用次数: 0