Journal of Hematopathology最新文献

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Transdifferentiation of diffuse large B-cell lymphoma to a poorly differentiated neoplasm following CAR T-cell therapy. CAR T 细胞疗法后弥漫大 B 细胞淋巴瘤向分化不良的肿瘤转化。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-09-01 Epub Date: 2024-06-15 DOI: 10.1007/s12308-024-00592-9
Nandan Padmanabha, Matthew J Weinstock, Sean Xu, Marcos Lepe, Leslie A Garrett, Ulrike P Kappes, Phillip D Michaels
{"title":"Transdifferentiation of diffuse large B-cell lymphoma to a poorly differentiated neoplasm following CAR T-cell therapy.","authors":"Nandan Padmanabha, Matthew J Weinstock, Sean Xu, Marcos Lepe, Leslie A Garrett, Ulrike P Kappes, Phillip D Michaels","doi":"10.1007/s12308-024-00592-9","DOIUrl":"10.1007/s12308-024-00592-9","url":null,"abstract":"<p><p>Chimeric antigen receptor T-cell (CAR-T) therapy is a recent advancement in precision medicine with promising results for patients with relapsed or refractory B-cell malignancies. However, rare post-therapy morphologic, immunophenotypic, and genomic alterations can occur. This study is to present a case of a patient with diffuse large B-cell lymphoma (DLBCL) who underwent anti-CD19 CAR-T therapy with disease in the uterus that showed transdifferentiation to a poorly differentiated malignant neoplasm that failed to express any lineage specific markers. In immunohistochemistry, fluorescence in situ hybridization (FISH) and targeted next-generation sequencing (NGS) were utilized to fully characterize the diagnostic DLBCL sample in comparison to the poorly differentiated neoplasm of the uterus. Analysis of the diagnostic DLBCL and the poorly differentiated neoplasm demonstrated evidence of a clonal relationship as well as revealing acquisition of mutations associated with CAR-T resistance. Furthermore, downregulation of B-cell associated antigens was observed, underscoring a mechanistic link to CAR-T evasion as well as demonstrating diagnostic confusion. This case illustrates the utility of employing multiple diagnostic modalities in elucidating a pathologic link between a B-cell lymphoma and poorly differentiated neoplasm following targeted therapy.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141328070","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
CD8-positive T-cell lymphoproliferative disorder of the uterus: a new subtype of indolent extranodal T-cell neoplasm? 子宫 CD8 阳性 T 细胞淋巴组织增生性疾病:一种新的非淋巴结外 T 细胞肿瘤亚型?
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-09-01 Epub Date: 2024-07-08 DOI: 10.1007/s12308-024-00589-4
Reham Ahmed, Andrew L Feldman
{"title":"CD8-positive T-cell lymphoproliferative disorder of the uterus: a new subtype of indolent extranodal T-cell neoplasm?","authors":"Reham Ahmed, Andrew L Feldman","doi":"10.1007/s12308-024-00589-4","DOIUrl":"10.1007/s12308-024-00589-4","url":null,"abstract":"<p><p>A 51-year-old female with menorrhagia was found to have a cervical polyp. Polypectomy and endometrial curettage showed an atypical lymphoid infiltrate. Hysterectomy was performed, showing extensive myometrial infiltration by small, cytologically bland CD3-positive αβ T cells with a non-activated cytotoxic phenotype and a low proliferative rate. PCR showed clonal TCR-β gene rearrangement. Lymph nodes were uninvolved. PET-CT was negative. A diagnosis of CD8-positive T-cell lymphoproliferative disorder (T-LPD) was made. At 6 months, the patient was asymptomatic with a negative repeat PET-CT. A critical recent advance in the classification of lymphoid neoplasms is the recognition of indolent extranodal T-LPDs, including those of the gastrointestinal tract (T-cell and NK-cell types) and skin (small/medium CD4-positive and acral CD8-positive). However, T-LPDs of the uterus are rare. Two indolent T-LPDs of the uterus have been reported, both showing a CD8-positive, nonactivated cytotoxic phenotype, low proliferative rate, and clonal TCR rearrangement. Neither developed systemic disease nor recurrence. The etiology of indolent T-LPDs and their relationship to overt T-cell lymphomas remain poorly understood. T-LPDs of the uterus may arise from effector memory T-cells that establish long-term, tissueresident immunologic memory following exposure to fetal extravillous trophoblastic cell alloantigens during a previous pregnancy. Neither our patient nor the 2 previously reported had a current pregnancy or a known recent infection or toxic exposure, and the event(s) triggering evolution into T-LPD are unknown. Indolent T-LPDs can be encountered at new and unusual extranodal sites; knowledge of their clinicopathological features will help avoid unnecessary cytotoxic chemotherapy and improve understanding of this group of disorders.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141560337","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
Misdiagnosis of Hodgkin disease as histiocytosis is associated with adverse consequences. 将霍奇金病误诊为组织细胞增生症会带来不良后果。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-08-30 DOI: 10.1007/s12308-024-00603-9
Jean-François Emile, Claire Pluchart, Lévi-Dan Azoulay, Baptiste Quere, Geoffroy Venton, Bruno Filhon, Alexandre Maria, Quentin Cabrera, Fleur Cohen-Aubart, Nicolas Schleinitz, Jean Donadieu, Julien Haroche
{"title":"Misdiagnosis of Hodgkin disease as histiocytosis is associated with adverse consequences.","authors":"Jean-François Emile, Claire Pluchart, Lévi-Dan Azoulay, Baptiste Quere, Geoffroy Venton, Bruno Filhon, Alexandre Maria, Quentin Cabrera, Fleur Cohen-Aubart, Nicolas Schleinitz, Jean Donadieu, Julien Haroche","doi":"10.1007/s12308-024-00603-9","DOIUrl":"https://doi.org/10.1007/s12308-024-00603-9","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114585","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
Systemic ALK-negative anaplastic large cell lymphoma with NPM1::TYK2 rearrangement. 伴有NPM1::TYK2重排的全身性ALK阴性非典型大细胞淋巴瘤。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-08-29 DOI: 10.1007/s12308-024-00604-8
Mckinzie Johnson, Nicholas Willard, Zenggang Pan
{"title":"Systemic ALK-negative anaplastic large cell lymphoma with NPM1::TYK2 rearrangement.","authors":"Mckinzie Johnson, Nicholas Willard, Zenggang Pan","doi":"10.1007/s12308-024-00604-8","DOIUrl":"https://doi.org/10.1007/s12308-024-00604-8","url":null,"abstract":"<p><p>Anaplastic large cell lymphoma (ALCL) is a rare subtype of non-Hodgkin lymphoma, with most cases harboring ALK gene rearrangement (ALK + ALCL); however, 20-50% of ALCLs do not have the rearrangement (ALK- ALCL) but exhibit distinct genetic alterations. In this report, we present an unusual case of systemic ALK- ALCL with NPM1::TYK2 fusion. Diagnosis of this case was challenging prior to the NGS findings. A comprehensive panel of immunohistochemical and in-situ hybridization studies was conducted. FISH assays were utilized to target the rearrangements of DUSP22 and TP63 genes. Moreover, next-generation sequencing (NGS) assays were performed to detect clonal rearrangements of IGH and TRG genes, somatic mutations, and potential fusions. The lymphoma cells in this case are negative for all hematolymphoid markers stained, except for CD30 expression and focal and weak CD43 expression. However, NGS studies detected clonal TRG rearrangement and NPM1::TYK2 rearrangement, which aid in the diagnosis of ALK- ALCL. NPM1::TYK2 rearrangement is a rare genetic alteration that has been reported in rare cases of primary cutaneous ALCL, mycosis fungoides, and lymphomatoid papulosis. To the best of our knowledge, this is the first reported instance of such rearrangement in systemic ALK- ALCL.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114586","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
Complete loss of lineage defining antigens in two cases of B-cell malignancies following CAR-T therapy. 两例 B 细胞恶性肿瘤患者在接受 CAR-T 疗法后完全丧失了血统定义抗原。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-08-26 DOI: 10.1007/s12308-024-00602-w
Alireza Torabi, Jason Love, Teresa Hyun, Angie Pham, Jordan Gauthier, Alexandre Hirayama, David Wu, Kikkeri Naresh
{"title":"Complete loss of lineage defining antigens in two cases of B-cell malignancies following CAR-T therapy.","authors":"Alireza Torabi, Jason Love, Teresa Hyun, Angie Pham, Jordan Gauthier, Alexandre Hirayama, David Wu, Kikkeri Naresh","doi":"10.1007/s12308-024-00602-w","DOIUrl":"https://doi.org/10.1007/s12308-024-00602-w","url":null,"abstract":"<p><p>Targeted immunotherapy is a promising approach in treating high-risk and refractory/relapsed lymphoid malignancies. Although this strategy has shown a significant success in treating non-Hodgkin B-cell lymphomas and plasma cell myeloma, relapse with loss of targeted antigen can occur. Rarely, complete loss of multiple lineage specific markers can happen. We are describing 2 cases of B-cell neoplasms along with contributing immunohistochemistry, cytogenetic, and molecular results. Post-targeted CAR-T therapy, both cases, one aggressive B-cell lymphoma and the other plasma cell myeloma, lost B-cell, and plasma cell antigens, respectively. Complete loss of lineage specific markers post-targeted therapy is a rare event that makes the diagnosis of the relapsed neoplasm challenging. In this article, we also reviewed the literature and highlighted possible mechanisms of antigen loss following targeted therapy.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057285","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
Simultaneous merkel cell carcinoma and acute myeloid leukaemia: A diagnostic challenge. 同时患有梅克尔细胞癌和急性髓性白血病:诊断难题。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-08-17 DOI: 10.1007/s12308-024-00600-y
Juan López-Pérez, Mª Paz Garrastazul-Sánchez, Ana Valenzuela-Caballero, Lidia Atienza-Cuevas, Mª Inmaculada Gardelegui-Pérez, Raquel de la Varga-Martínez
{"title":"Simultaneous merkel cell carcinoma and acute myeloid leukaemia: A diagnostic challenge.","authors":"Juan López-Pérez, Mª Paz Garrastazul-Sánchez, Ana Valenzuela-Caballero, Lidia Atienza-Cuevas, Mª Inmaculada Gardelegui-Pérez, Raquel de la Varga-Martínez","doi":"10.1007/s12308-024-00600-y","DOIUrl":"https://doi.org/10.1007/s12308-024-00600-y","url":null,"abstract":"<p><p>Merkel cell carcinoma is a very aggressive primary skin tumour with a high risk of local recurrences and lymphatic and distant metastases. The frequent association between this carcinoma and other skin tumour and lymphoid malignancies, its similar cellular morphology with leukocytes, and limited infiltration in bone marrow constituted a challenging diagnosis. We report an unusual case of an 82-year-old male who simultaneously presented Merkel cell carcinoma and acute myeloid lymphoma. The diagnosis was established through flow cytometry, immunohistochemical studies and next generation sequencing (NGS) analysis. Flow cytometry allowed for the differentiation of the two cell populations in bone marrow aspirate, which was crucial to the diagnosis of Merkel cell carcinoma and acute myeloid leukaemia (AML), after confirmed by immunohistochemistry. AML could be classified based on NGS results. Following diagnosis, the patient received palliative care and died 50 days later. immunophenotypic analysis by flow cytometry and Immunohistochemical study was crucial to establish the diagnosis of simultaneous affection of Merkel cell carcinoma and hematologic disorder.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996920","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
Bridging dermatology and hematology: a case of lepromatous leprosy with bone marrow involvement and pancytopenia. 皮肤科和血液科的桥梁:一例骨髓受累和全血细胞减少的麻风病人。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-08-07 DOI: 10.1007/s12308-024-00601-x
Tarunpreet Saini, Sejal Jain, Tarun Narang, Rakesh Yadav, Pulkit Rastogi
{"title":"Bridging dermatology and hematology: a case of lepromatous leprosy with bone marrow involvement and pancytopenia.","authors":"Tarunpreet Saini, Sejal Jain, Tarun Narang, Rakesh Yadav, Pulkit Rastogi","doi":"10.1007/s12308-024-00601-x","DOIUrl":"https://doi.org/10.1007/s12308-024-00601-x","url":null,"abstract":"<p><p>Leprosy, caused by Mycobacterium leprae (M. leprae), primarily manifests with cutaneous and peripheral nerve involvement. Systemic involvement, particularly in the bone marrow, is exceedingly rare. This report presents a case of lepromatous leprosy with bone marrow involvement, emphasizing the systemic nature of the disease and the importance of comprehensive diagnostic and management approaches. We aim to present a case of lepromatous leprosy with bone marrow involvement, detailing the clinical presentation, diagnostic evaluation, and management approach. A 65-year-old male with lepromatous leprosy and severe erythema nodosum leprosum developed pancytopenia. After undergoing comprehensive clinical evaluation, including history taking, physical examination, and laboratory investigations, bone marrow examination and molecular diagnostics using polymerase chain reaction (PCR) were performed to confirm the presence of M. leprae as an etiology for his pancytopenia. The bone marrow aspirate revealed hypercellularity with erythropoiesis and thrombopoiesis within normal limits. Foamy histiocytes with erythrophagocytosis were observed, along with the presence of M. leprae on Modified Ziehl-Neelsen stain. Molecular analysis confirmed M. leprae DNA in the bone marrow aspirate. Treatment with multi-drug therapy (MDT) and thalidomide resulted in normalization of blood counts and healing of skin lesions. This case underscores the systemic nature of leprosy and the rarity of bone marrow involvement, highlighting the importance of thorough evaluation in cases of persistent symptoms. Comprehensive diagnostic approaches, including bone marrow examination and molecular diagnostics, are essential for accurate diagnosis and timely initiation of appropriate treatment, ultimately improving patient outcomes and minimizing disease complications.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898938","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
Quantification of the median fluorescence intensity of CD3 and CD4 in mycosis fungoides/Sezary syndrome versus non-neoplastic control cases in peripheral blood. 外周血中真菌病/Sezary 综合征与非肿瘤性对照病例的 CD3 和 CD4 荧光强度中位数量化。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-08-02 DOI: 10.1007/s12308-024-00599-2
Fei Fei, Nivaz Brar, Melissa Beth Herring, Joshua R Menke, Jean Oak, Sebastian Fernandez-Pol
{"title":"Quantification of the median fluorescence intensity of CD3 and CD4 in mycosis fungoides/Sezary syndrome versus non-neoplastic control cases in peripheral blood.","authors":"Fei Fei, Nivaz Brar, Melissa Beth Herring, Joshua R Menke, Jean Oak, Sebastian Fernandez-Pol","doi":"10.1007/s12308-024-00599-2","DOIUrl":"https://doi.org/10.1007/s12308-024-00599-2","url":null,"abstract":"<p><p>Peripheral blood involvement by MF/SS has significant implications for prognosis and treatment. Flow cytometry is commonly used to assess MF/SS by analyzing the ratio of CD26- and/or CD7-CD4 + T cells and assessment of immunophenotypic abnormalities. However, distinguishing normal from abnormal cells is not always easy. In this study, we aimed to establish quantitative thresholds to better distinguish normal CD4 + T cells from neoplastic CD4 + T cells. A retrospective analysis of flow cytometry data was performed on 30 MF/SS patients with a detectable abnormal T cell population (positive), 63 patients with suspected or confirmed cutaneous involvement without a detectable abnormal T cell population (negative), and 60 healthy controls (control). CD3 and CD4 median fluorescence intensity (MFI) was normalized to internal control subsets. Among the positive cases, 50% had CD3 expression outside ± 2 SD from the mean of the negative and control group in the CD4 + CD26- subset. The corresponding specificity of this threshold was 94%. The ± 2 SD threshold showed a sensitivity of 57% and a specificity of 94% for the CD3 intensity among the CD7-negative subset. For CD4 intensity, the ± 2 SD threshold had a sensitivity of 33.3% and specificity of 95% for the CD26-negative subset and a sensitivity of 37% and specificity of 95% for the CD7-negative subset. In our study, although changes in CD3 and CD4 intensity greater than ± 2 SD were specific for MF/SS, more subtle differences in the intensity of CD3 and CD4 should not be used as the sole abnormality to make a diagnosis of circulating MF/SS.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876618","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
WNT inhibitory factor 1 (WIF1) is a novel fusion partner of RUNX family transcription factor 1 (RUNX1) in acute myeloid leukemia with t(12;21)(q14;q22) 在患有 t(12;21)(q14;q22)的急性髓性白血病患者中,WNT 抑制因子 1 (WIF1) 是 RUNX 家族转录因子 1 (RUNX1) 的新型融合伙伴
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-07-27 DOI: 10.1007/s12308-024-00597-4
Shaobin Yang, Ming Sun, Long Chen, Hong Zhang, Lidan Sun, Enbin Liu, Xin Tian, Xiaoju Hou, Yani Lin, Mize Lu
{"title":"WNT inhibitory factor 1 (WIF1) is a novel fusion partner of RUNX family transcription factor 1 (RUNX1) in acute myeloid leukemia with t(12;21)(q14;q22)","authors":"Shaobin Yang, Ming Sun, Long Chen, Hong Zhang, Lidan Sun, Enbin Liu, Xin Tian, Xiaoju Hou, Yani Lin, Mize Lu","doi":"10.1007/s12308-024-00597-4","DOIUrl":"https://doi.org/10.1007/s12308-024-00597-4","url":null,"abstract":"<p>As a member of the core transcription factor family, <i>RUNX1</i> plays an important role in stem cell differentiation. <i>RUNX1</i> rearrangements are common in myeloid and lymphoid tumors [1]. (Blood 129(15):2070-2082, 2017). One of the most commonly detected abnormalities in acute myeloid leukemia (AML) is the translocation t(8;21)(q22;q22) (Blood Adv 4(1):229–238, 2020), resulting in a <i>RUNX1</i>::<i>RUNX1T1</i> fusion. Occasionally, <i>RUNX1</i> is translocated with other genes. This article describes an AML patient with a specific chromosomal translocation involving the <i>RUNX1</i> gene and the identification of the <i>RUNX1</i>::<i>WIF1</i> fusion. Chromosomal abnormalities were detected through karyotype analysis, break gene involved was identified via fluorescence in situ hybridization (FISH), and the novel fusion was identified through transcriptome sequencing and subsequently confirmed through reverse transcription-polymerase chain reaction (RT-PCR) and Sanger sequencing. A 79-year-old female patient diagnosed with AML was found to have a t(12;21)(q14;q12) translocation. FISH analysis provided evidence of <i>RUNX1</i> gene rearrangement. Additionally, transcriptomic sequencing revealed a novel fusion known as <i>RUNX1</i>::<i>WIF1</i>, which consists of <i>RUNX1</i> exon 2 and <i>WIF1</i> exon 3. The novel fusion was further confirmed through RT-PCR and Sanger sequencing. We identified <i>WIF1</i> as a novel fusion partner of <i>RUNX1</i> in AML. Additionally, this is the first report of a <i>RUNX1</i> fusion gene with the break point in intron 2, resulting in an out-of-frame fusion. Further research is needed to investigate the impact of this novel fusion on the establishment and progression of the disease.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141784422","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
Paraneoplastic glomerulonephritis and kidney infiltration by mantle cell lymphoma: A diagnostic challenge. 副肿瘤性肾小球肾炎和套细胞淋巴瘤的肾脏浸润:诊断难题。
IF 0.6 4区 医学
Journal of Hematopathology Pub Date : 2024-07-20 DOI: 10.1007/s12308-024-00596-5
Ana Lerma-Verdejo, Maribel Monroy-Condori, Xavier E Guerra-Torres, Nahir Daniela Moreno Paredes, Anastasio Serrano Egea, Francisco Díaz, Jorge L Morales-Montoya, Jacobo Galán Vega, Iván Arenas-Moncaleano, Fernando Solano Ramos
{"title":"Paraneoplastic glomerulonephritis and kidney infiltration by mantle cell lymphoma: A diagnostic challenge.","authors":"Ana Lerma-Verdejo, Maribel Monroy-Condori, Xavier E Guerra-Torres, Nahir Daniela Moreno Paredes, Anastasio Serrano Egea, Francisco Díaz, Jorge L Morales-Montoya, Jacobo Galán Vega, Iván Arenas-Moncaleano, Fernando Solano Ramos","doi":"10.1007/s12308-024-00596-5","DOIUrl":"https://doi.org/10.1007/s12308-024-00596-5","url":null,"abstract":"<p><p>Mantle cell lymphoma (MCL) is a rare and aggressive type of lymphoma that can affect the kidneys. The disease can lead to kidney impairment, and glomerulonephritis (GN) is a rare but serious complication of MCL. We report a case of MCL with kidney interstitial infiltration and membranoproliferative glomerulonephritis with focal and segmental glomerulosclerosis. A 75-year-old man presented recurrent acute kidney failure and worsening of nephrotic syndrome. Kidney biopsy revealed membranoproliferative glomerulonephritis presented immunoglobulin and complement deposition, focal and segmental glomerulosclerosis of not otherwise specified type, and infiltration by mantle cell lymphoma. Bone marrow biopsy and PET/CT scan confirmed the diagnosis of mantle cell lymphoma. The patient was treated with R-CHOP21 chemotherapy with cyclophosphamide dose adjustment for nephroprotection. He achieved complete remission with normalization of hematological parameters, improvement of kidney function, and reduction of proteinuria and albuminuria. This case shows the importance of considering alternative diagnoses in patients with recurrent chronic kidney disease and worsening nephrotic syndrome. Early diagnosis and treatment of mantle cell lymphoma can lead to favorable outcomes.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141731617","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
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