Journal of Hematopathology最新文献_第2页

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 : 2024-12-01 Epub 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":"10.1007/s12308-024-00596-5","url":null,"abstract":"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.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"237-244"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","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

Extra-adrenal myelolipoma involved by plasma cell neoplasm: homing of neoplastic plasma cells to a site of ectopic hematopoiesis. 浆细胞瘤累及肾上腺外骨髓脂肪瘤：异位造血部位的肿瘤性浆细胞归巢。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-10-17 DOI: 10.1007/s12308-024-00608-4

Yue Zhao, Jiaqi He, Endi Wang

引用次数: 0

BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature. 罗赛-多夫曼病的 BRAF V600E 突变和 PD-L1 高表达：病例报告和文献综述。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-11-27 DOI: 10.1007/s12308-024-00611-9

Farnoush M Moen, Mariam M Youssef, Mihir Shukla, Mary Lynn Nierodzik, Marius E Mayerhoefer, Christopher Park

{"title":"BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature.","authors":"Farnoush M Moen, Mariam M Youssef, Mihir Shukla, Mary Lynn Nierodzik, Marius E Mayerhoefer, Christopher Park","doi":"10.1007/s12308-024-00611-9","DOIUrl":"10.1007/s12308-024-00611-9","url":null,"abstract":"BRAF V600E mutations are frequently found in histiocytic/dendritic cell neoplasms such as Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH), but few reports have also described BRAF mutations in Rosai-Dorfman disease (RDD), and even these cases may predominantly represent mixed histiocytosis. BRAF mutations have been studied in histiocytic/dendritic cell neoplasms and described to be associated with increased risk of relapse and long-term consequences, but few studies have examined BRAF V600E mutation in RDD, which is recognized as a neoplasm given the high frequency of MAPK pathway alterations. Here, we report a case of BRAF V600E-mutated RDD in a patient who presented with generalized lymphadenopathy. During our evaluation of this patient, we also found expression of PD-L1 in neoplastic histiocytes. During our review period, only few cases of RDD reported to harbor BRAF mutation or were evaluated for the expression of PDL1 by neoplastic cells. Given the potential challenges in distinguishing RDD from other histiocytic/dendritic cell neoplasms, including mixed histiocytosis with similar clinicopathological manifestations, we will discuss the current state of knowledge regarding the frequency and clinical impact of BRAF V600E in RDD, as well as the role of BRAF mutations in RDD pathogenesis. Distinction of BRAF V600E mutated histiocytic/dendritic cell neoplasms requires consideration of distinctive histopathological and immunophenotypic findings in appropriate clinical and radiologic setting. Given the increasing use of BRAF inhibitors as well as checkpoint blockade inhibitors to treat a number of cancers, we will discuss the clinical implications of the presence of BRAF V600E mutation and PD-L1 expression in RDD.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"183-189"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11635026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142734243","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}

引用次数: 0

Mast cell sarcoma with KIT p.D816V mutation and concurrent systemic mastocytosis. 肥大细胞肉瘤伴KIT p.D816V突变并发全身性肥大细胞增多症。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-12-02 DOI: 10.1007/s12308-024-00614-6

Nicholas Collins, Nicholas Willard, Zenggang Pan

引用次数: 0

Follicular dendritic cell sarcoma involving the parotid gland with expression of the melanocytic marker PRAME. 累及腮腺的滤泡树突状细胞肉瘤，表达黑色素细胞标记物 PRAME。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-10-09 DOI: 10.1007/s12308-024-00605-7

Sumayya Aslam, Ifegwu Ibe, Ying Zhang, Roksolana Demianets, Truc Tran, Ashley Gamayo, Xiaohui Zhao, Sherif A Rezk

{"title":"Follicular dendritic cell sarcoma involving the parotid gland with expression of the melanocytic marker PRAME.","authors":"Sumayya Aslam, Ifegwu Ibe, Ying Zhang, Roksolana Demianets, Truc Tran, Ashley Gamayo, Xiaohui Zhao, Sherif A Rezk","doi":"10.1007/s12308-024-00605-7","DOIUrl":"10.1007/s12308-024-00605-7","url":null,"abstract":"Follicular dendritic cell sarcoma is a rare mesenchymal neoplasm arising from follicular dendritic cells (FDC) of lymphoid follicles. While the majority of FDC sarcoma cases arise within lymph nodes, approximately 30% manifest in extranodal sites. Only 4 prior occurrences of intra-parotid FDC sarcomas have been documented. We are reporting a rare case of FDC of the parotid gland in a 65-year-old male with a questionable history of B-cell lymphoma. The patient underwent a right total parotidectomy and bilateral neck dissection. A diagnosis of follicular dendritic cell (FDC) sarcoma was made, with one positive intra-parotid node. The malignant cells expressed the characteristic markers for FDC sarcoma but with positivity of the melanocytic marker PRAME. This is a case of FDC sarcoma with an unusual extranodal localization in the parotid gland. Immunohistochemistry was useful in making a diagnosis although the positivity for the melanocytic marker PRAME was unusual and unreported before.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"271-274"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395086","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}

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 : 2024-12-01 Epub 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

引用次数: 0

Pathogenic variants of mycosis fungoides identified using next-generation sequencing. 利用新一代测序技术识别真菌病的致病变体。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-09-19 DOI: 10.1007/s12308-024-00607-5

Sunaina Shrestha, Kimberly Newsom, Joanna Melody Chaffin, Robert P Seifert

{"title":"Pathogenic variants of mycosis fungoides identified using next-generation sequencing.","authors":"Sunaina Shrestha, Kimberly Newsom, Joanna Melody Chaffin, Robert P Seifert","doi":"10.1007/s12308-024-00607-5","DOIUrl":"10.1007/s12308-024-00607-5","url":null,"abstract":"Mycosis fungoides (MF), the predominant form of cutaneous T-cell lymphoma (CTCL), poses diagnostic challenges due to its clinical and histological resemblance to benign skin disorders. Delayed diagnosis contributes to therapeutic delays, prompting exploration of advanced diagnostics tools. Next-generation sequencing (NGS) may enhance disease detection by identifying pathogenic variants common to CTCL but absent in benign inflammatory disorders. We aim to discuss novel and common pathogenic variants in CTCL to enhance the utility of NGS as a diagnostic adjunct. This pilot study employed (NGS) to identify pathogenic variants in 10 MF cases. Cases were selected based on PCR-confirmed T-cell receptor clonality, with adequate DNA for NGS. GatorSeq NGS Panel, Illumina NextSeq500, and QIAGEN Clinical Insight QCI software facilitated sequencing, analysis, and variant interpretation. NGS revealed eight novel mutations in genes including HLA-DRB1, AK2, ITPKB, HLA-B, TYRO3, and CHD2. Additionally, previously reported MF-associated mutations such as DNMT3A, STAT5B, and SOCS1 (mouse study only) were detected as well. Detected variants were involved in apoptotic, NF-kB, JAK-STAT, and TCR signaling pathways, providing insights into MF pathogenesis. Mutations in genes like APC, AK2, TYRO3, and ITPKB that regulate tumor proliferation and apoptosis were noted. MF cases were associated with HLA gene mutations. NGS may enhance MF diagnosis, as the detection of pathogenic variants, particularly those known to occur in MF, favors a neoplastic diagnosis over an inflammatory diagnosis. Continuing this work may lead to the discovery of therapeutic targets.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"209-214"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300424","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 : 2024-12-01 Epub 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":"10.1007/s12308-024-00600-y","url":null,"abstract":"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.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"255-258"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","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

Macrothrombocytopenia and granulopoieitic Döhle body-like inclusions in a MYH9-related disorder. 一种与 MYH9 有关的疾病中的大血小板减少症和粒细胞多勒体样内含物。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-11-07 DOI: 10.1007/s12308-024-00610-w

Bernhard Strasser, Alexander Haushofer

引用次数: 0

Navigating diagnostic dilemmas: a rare presentation of extramedullary T-lymphoblastic leukemia/lymphoma with chronic myeloid leukemia. 诊断两难：髓外T淋巴细胞白血病/淋巴瘤合并慢性髓性白血病的罕见病例。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-11-25 DOI: 10.1007/s12308-024-00613-7

Ahmad Alshomrani, Richard Laye, Neha Gupta

{"title":"Navigating diagnostic dilemmas: a rare presentation of extramedullary T-lymphoblastic leukemia/lymphoma with chronic myeloid leukemia.","authors":"Ahmad Alshomrani, Richard Laye, Neha Gupta","doi":"10.1007/s12308-024-00613-7","DOIUrl":"10.1007/s12308-024-00613-7","url":null,"abstract":"Chronic myeloid leukemia (CML) typically presents in the chronic phase. The blast crisis phase in CML predominantly comprises the myeloid phenotype, while B-cell lymphoblastic crisis is common among the lymphoid lineages. Presentation as a T-lymphoblastic crisis is exceptionally rare. Little is known about its characteristics, treatment, and prognosis. This case study reports a patient who presented as an extramedullary blast crisis with T-lymphoblastic immunophenotype without a known prior diagnosis of CML. We performed hematoxylin and eosin staining, immunohistochemistry on the inguinal lymph node, and bone marrow biopsy. Ancillary studies including flow cytometry and cytogenetic testing were conducted as needed. BCR::ABL1 is quantitative real-time polymerase chain reaction monitored disease progression. Our patient is a 40-year-old male with no previous medical history who presented with neck stiffness and pain of one week in duration. Clinical evaluation revealed diffuse lymphadenopathy and splenomegaly. A biopsy from the inguinal lymph node revealed T-lymphoblastic lymphoma (T-LBL) (90%) and a population of myeloblasts (10%). Subsequent bone marrow biopsy showed myelocyte expansion, dwarf megakaryocytes, scattered myeloblasts (9%), and T-lymphoblasts (6%). Flow cytometry of the bone marrow aspirate revealed myeloblasts (5.4%) and T-lymphoblasts (6.3%). Genetic and molecular studies identified the BCR-ABL1 fusion. This case contributes to the medical literature by documenting a rare occurrence of extramedullary T-LBL with concurrent CML. The absence of a CML history makes the diagnosis particularly challenging and underscores the need for comprehensive and personalized treatment strategies.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"275-279"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711802","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