Journal of Hematopathology最新文献_第4页

Validation of an automated iron stain process for use with bone marrow aspirate smear slides. 验证用于骨髓抽吸涂片的自动铁染色过程。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-09-01 Epub Date: 2024-05-21 DOI: 10.1007/s12308-024-00586-7

Cara Lunn Shirai, Marianna B Ruzinova, Philip Barber, Elizabeth Bianchi, Julie M Ackerman, Tianjiao Wang, Shilah Parrish, John L Frater

{"title":"Validation of an automated iron stain process for use with bone marrow aspirate smear slides.","authors":"Cara Lunn Shirai, Marianna B Ruzinova, Philip Barber, Elizabeth Bianchi, Julie M Ackerman, Tianjiao Wang, Shilah Parrish, John L Frater","doi":"10.1007/s12308-024-00586-7","DOIUrl":"10.1007/s12308-024-00586-7","url":null,"abstract":"The assessment of bone marrow iron stores is typically performed on an aspirate smear slide that has been manually stained by a technologist using a commercially available kit. This approach can contribute to inconsistent results and limit the broad use of iron staining in bone marrow specimens, particularly when laboratories have low staffing and/or high specimen volumes. Here, we describe the adaptation and validation of the Ventana Benchmark automated stainer and iron stain kit for routine clinical use of staining iron in bone marrow aspirate smear slides. We assessed accuracy and precision of the Ventana automated iron staining protocol compared to the Perls Prussian blue manual iron staining index method. Hematopathologists assigned Gale scores and enumerated the percentages of erythroid sideroblasts on paired patient bone marrow aspirate smear slides stained by the automated method and the manual iron staining method. We found a similar level of performance of the Ventana automated iron stain relative to the index manual method (as assessed by Pearson correlation and Bland-Altman analyses). In addition, there was low imprecision between replicates performed via the automated iron stain protocol. We also report superior qualitative findings of the automated method in ease of localization of iron storage, visualization of sideroblasts, and counterstain consistency. Automated iron staining of bone marrow aspirate smear slides performed similarly to the manual method and may allow for accurate routine evaluation of bone marrow iron stores as part of bone marrow analysis.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"121-128"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141071831","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

An unusual case of pure erythroid leukemia with normal karyotype and NPM1 mutation. 一例核型正常、NPM1 基因突变的纯红细胞白血病罕见病例。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-09-01 Epub Date: 2024-07-19 DOI: 10.1007/s12308-024-00588-5

Hovsep Ohan, Juan Gomez-Gelvez, Yulei Shen, Sharmila Ghosh, John Carey, Kedar Inamdar, Wei Liu

引用次数: 0

Highly atypical lymphoid proliferation after COVID-19 vaccine, with spontaneous regression. 接种 COVID-19 疫苗后出现高度非典型淋巴细胞增生，并自发消退。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-09-01 Epub Date: 2024-05-22 DOI: 10.1007/s12308-024-00587-6

Jian Li, Anna Ruskova, Merit Hanna

引用次数: 0

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":"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.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"149-153"},"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":"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.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"179-182"},"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

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":"As a member of the core transcription factor family, RUNX1 plays an important role in stem cell differentiation. RUNX1 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 RUNX1::RUNX1T1 fusion. Occasionally, RUNX1 is translocated with other genes. This article describes an AML patient with a specific chromosomal translocation involving the RUNX1 gene and the identification of the RUNX1::WIF1 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 RUNX1 gene rearrangement. Additionally, transcriptomic sequencing revealed a novel fusion known as RUNX1::WIF1, which consists of RUNX1 exon 2 and WIF1 exon 3. The novel fusion was further confirmed through RT-PCR and Sanger sequencing. We identified WIF1 as a novel fusion partner of RUNX1 in AML. Additionally, this is the first report of a RUNX1 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.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":"33 1","pages":""},"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

Gamma-delta T-cell acute lymphoblastic lymphoma/leukemia: a report of a rare entity. γ-δT细胞急性淋巴细胞淋巴瘤/白血病：一份罕见病例的报告。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-06-01 Epub Date: 2024-03-25 DOI: 10.1007/s12308-024-00578-7

Giby V George, Maggie Kajstura, Andrew G Evans, Chauncey R Syposs

{"title":"Gamma-delta T-cell acute lymphoblastic lymphoma/leukemia: a report of a rare entity.","authors":"Giby V George, Maggie Kajstura, Andrew G Evans, Chauncey R Syposs","doi":"10.1007/s12308-024-00578-7","DOIUrl":"10.1007/s12308-024-00578-7","url":null,"abstract":"Gamma delta (γδ) T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) is a rare, aggressive subtype of T-lymphoid leukemia that accounts for only 9-12% of all T-ALL cases. Herein, we report the case of an 8-year-old boy who presented with facial swelling, shortness of breath, and progressive cervical and axillary lymphadenopathy. Pathological examination, flow cytometry (Navios, Beckman Coulter ClearLLab 10C 10-color T-cell panel [containing FITC-labeled TCR γδ antibody]), chromosomal analysis, interphase FISH, and targeted DNA-based NGS (34-gene Illumina TruSeq Myeloid Panel) were performed. Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (γδ). Microscopic examination of an enlarged lymph node and bone marrow showed involvement by a dense, diffuse, neoplastic infiltrate. Interphase FISH revealed a copy number loss of PDGFRB (5q32) in 90.5% of interphase nuclei. Targeted DNA-based NGS detected a tier II oncogenic variant in NOTCH1 (c.7375C > T, p.Gln2459Ter) at a VAF of 21%. This case of γδ T-ALL highlights a rare entity and adds to the literature, albeit scant, which may aid in better recognition and classification.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"103-107"},"PeriodicalIF":0.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11127802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289491","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

Cytogenetic and pathologic characterization of MYC-rearranged B-cell lymphomas in pediatric and young adult patients. 儿童和年轻成人 MYC 重排 B 细胞淋巴瘤的细胞遗传学和病理学特征。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-06-01 Epub Date: 2024-04-02 DOI: 10.1007/s12308-024-00579-6

Marie-France Gagnon, Frido K Bruehl, Daniel R Sill, Reid G Meyer, Patricia T Greipp, Nicole L Hoppman, Xinjie Xu, Linda B Baughn, Jess F Peterson, Ellen D McPhail, Rhett P Ketterling, Rebecca L King

{"title":"Cytogenetic and pathologic characterization of MYC-rearranged B-cell lymphomas in pediatric and young adult patients.","authors":"Marie-France Gagnon, Frido K Bruehl, Daniel R Sill, Reid G Meyer, Patricia T Greipp, Nicole L Hoppman, Xinjie Xu, Linda B Baughn, Jess F Peterson, Ellen D McPhail, Rhett P Ketterling, Rebecca L King","doi":"10.1007/s12308-024-00579-6","DOIUrl":"10.1007/s12308-024-00579-6","url":null,"abstract":"MYC-rearranged B-cell lymphoma (BCL) in the pediatric/young adult (YA) age group differs substantially in disease composition from adult cohorts. However, data regarding the partner genes, concurrent rearrangements, and ultimate diagnoses in these patients is scarce compared to that in adult cohorts. We aimed to characterize the spectrum of MYC-rearranged (MYC-R) mature, aggressive BCL in the pediatric/YA population. A retrospective study of morphologic, immunophenotypic, and fluorescence in situ hybridization (FISH) results of patients age ≤ 30 years with suspected Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL) or high-grade B-cell lymphoma (HGBCL), and a MYC-R by FISH between 2013-2022 was performed. Two-hundred fifty-eight cases (129 (50%) pediatric (< 18 years) and 129 (50%) YA (18-30 years)) were included. Most MYC-R BCL in pediatric (89%) and YA (66%) cases were BL. While double-hit (DH) cytogenetics (MYC with BCL2 and/or BCL6-R, HGBCL-DH) was rare in the pediatric population (2/129, 2%), HGBCL-DH increased with age and was identified in 17/129 (13%) of YA cases. Most HGBCL-DH had MYC and BCL6-R, while BCL2-R were rare in both groups (3/258, 1%). MYC-R without an IG partner was more common in the YA group (14/116 (12%) vs 2/128 (2%), p = 0.001). The pediatric to YA transition is characterized by decreasing frequency in BL and increasing genetic heterogeneity of MYC-R BCL, with emergence of DH-BCL with MYC and BCL6-R. FISH to evaluate for BCL2 and BCL6 rearrangements is likely not warranted in the pediatric population but should continue to be applied in YA BCL.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"51-61"},"PeriodicalIF":0.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11127862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140337574","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

In honor of Prof. Dr. José Vassallo, MD, PhD (1957-2024). 纪念医学博士何塞-瓦萨洛教授（1957-2024）。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-06-01 Epub Date: 2024-03-07 DOI: 10.1007/s12308-024-00576-9

Guilherme Rossi Assis-Mendonça

引用次数: 0

The first case of six-way complex translocation of t(4;7;9;22;8;14) in a patient with chronic myeloid leukemia. 首例慢性粒细胞白血病患者的 t(4;7;9;22;8;14)六向复合易位。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2024-06-01 Epub Date: 2024-03-16 DOI: 10.1007/s12308-024-00577-8

Xiaoyu Bi, Chao Li, Miao Shang, Bingbing Han, Hongyu Li, Lidan Sun, Yani Lin, Shaobin Yang

{"title":"The first case of six-way complex translocation of t(4;7;9;22;8;14) in a patient with chronic myeloid leukemia.","authors":"Xiaoyu Bi, Chao Li, Miao Shang, Bingbing Han, Hongyu Li, Lidan Sun, Yani Lin, Shaobin Yang","doi":"10.1007/s12308-024-00577-8","DOIUrl":"10.1007/s12308-024-00577-8","url":null,"abstract":"In chronic myeloid leukemia (CML), patients exhibit the t(9;22)(q34.1;q11.2) translocation, resulting in the formation of a Philadelphia chromosome (Ph). However, a subset of CML patients display variant complex translocations, characterized by three-way, four-way, and five-way translocations, which have been occasionally associated with a poor prognosis. This case report presents the first case of a t(9;22) variant six-way complex translocation in CML. The R banding chromosome karyotyping technique was used to obtain preliminary karyotyping results, and the multi-probe FISH technique was used to assist in the verification of chromosome results. Both FISH and PCR proved the existence of fusion genes. A 45-year-old male patient admitted to our hospital due to elevated WBC and anemia. Bone marrow smears revealed a significant proliferation of mature granulocytes, accompanied by an increase in eosinophils and basophils. Karyotype analysis indicated abnormalities in six chromosomes, including 4, 7, 8, 9, 14, and 22. Further analysis using FISH technology demonstrated the presence of the BCR::ABL1 fusion gene, as well as the mapping of the BCR (22q11), MYC (8q24), IGH (14q32), D4S163 (4q35.1), and D7S486 (7q31) genes to new chromosomes. Ultimately, the karyotype findings were described as t(4;7;9;22;8;14)(q27;q22;q34;q11;q22;q12). PCR showed that BCR::ABL1 was p210. After treatment with imatinib for 4 months, the patient achieved complete cytogenetic response (CCyR) and early molecular response (EMR). This is the first report of complex chromosomal karyotype involving six-way translocation in CML; the combination of chromosome analysis and FISH techniques is an effective strategy in determining the karyotype result.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":" ","pages":"97-101"},"PeriodicalIF":0.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140141104","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