Journal of Hematopathology最新文献_第7页

SATB2 expression in hematolymphoid neoplasms. SATB2 在血淋巴肿瘤中的表达。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-04-03 DOI: 10.1007/s12308-023-00543-w

Gerald C Tiu, Yasodha Natkunam, Sebastian Fernandez-Pol

引用次数: 0

Epithelioid inflammatory myofibroblastic sarcoma: a pitfall in the differential diagnosis of ALK-positive anaplastic large cell lymphoma. 上皮样炎性肌纤维肉瘤：ALK阳性无性大细胞淋巴瘤鉴别诊断中的一个陷阱。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-03-14 DOI: 10.1007/s12308-023-00537-8

Amr Fadl, Andrew L Feldman

{"title":"Epithelioid inflammatory myofibroblastic sarcoma: a pitfall in the differential diagnosis of ALK-positive anaplastic large cell lymphoma.","authors":"Amr Fadl, Andrew L Feldman","doi":"10.1007/s12308-023-00537-8","DOIUrl":"10.1007/s12308-023-00537-8","url":null,"abstract":"An 18-year-old female presented with a 4.5 cm abdominal mass. Biopsy showed sheet-like growth of large tumor cells with round to oval nuclei, 1-2 nucleoli, and abundant cytoplasm. Immunohistochemistry showed strong, uniform CD30 staining and cytoplasmic ALK staining. B-cell markers (CD20, CD79a, PAX5, kappa/lambda) and T-cell markers (CD2, CD3, CD4, CD5, CD43, granzyme B, T-cell receptor-β) were negative. Other hematopoietic markers (CD45, CD34, CD117, CD56, CD163, EBV) were negative, but CD138 was positive. Non-hematopoietic markers showed desmin positivity and negativity for S100, melan A, HBM45, PAX8, PAX2, WT1, MYO-D1, myogenin, pancytokeratin, and CAM5.2. Sequencing identified PRRC2B::ALK fusion. A diagnosis of epithelioid inflammatory myofibroblastic sarcoma (EIMS) was made. EIMS is a rare, aggressive form of inflammatory myofibroblastic tumor typically presenting in children and young adults. The tumor comprises large epithelioid cells that express ALK and often CD30. ALK-positive ALCL has a similar age range and also is a large-cell tumor expressing CD30 and ALK. Other ALK-positive neoplasms (e.g., carcinomas, ALK-positive large B-cell lymphoma, ALK-positive histiocytosis) typically lack CD30 and have distinct clinicopathologic features that aid diagnosis. Hematopathologists need to distinguish EIMS from ALK-positive ALCL, which frequently shows loss of pan-T-cell antigens. Careful morphologic evaluation for the hallmark cells of ALCL and comprehensive phenotyping are critical to avoid this diagnostic pitfall. If known, the ALK rearrangement partner gene may also provide diagnostic clues; for example PRRC2B::ALK and RANBP2::ALK occur in EIMS but not ALCL.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10312248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9747523","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

Trouble afoot: Mycosis fungoides bullosa at an unusual site. 麻烦缠身不寻常部位的牛皮癣霉菌病

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-03-01 DOI: 10.1007/s12308-023-00534-x

Andreah De La Hoz, Rima Koka, Zeba N Singh, Jennie Y Law, Jean A Yared, Thomas J Hornyak, Michael E Kallen

引用次数: 0

Lineage switch of KMT2A-rearranged adult B-lineage acute lymphoblastic leukemia following bispecific T-cell engager and monoclonal antibody therapy. KMT2A 重排成人 B 系急性淋巴细胞白血病在接受双特异性 T 细胞吸引子和单克隆抗体治疗后的系谱转换。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-03-22 DOI: 10.1007/s12308-023-00539-6

Jia-Rong Wu, Pei-Chun Shih, Ching Li, Hsiao-Ling Chao, Hsiao-Chun Wang, Yi-Mei Chiang, Yu-Jung Liu, Szu-Chun Hsu, Chi-Yuan Yao, Lo-Ho Chen, Chien-Chin Lin, Hwei-Fang Tien, Wen-Chien Chou

{"title":"Lineage switch of KMT2A-rearranged adult B-lineage acute lymphoblastic leukemia following bispecific T-cell engager and monoclonal antibody therapy.","authors":"Jia-Rong Wu, Pei-Chun Shih, Ching Li, Hsiao-Ling Chao, Hsiao-Chun Wang, Yi-Mei Chiang, Yu-Jung Liu, Szu-Chun Hsu, Chi-Yuan Yao, Lo-Ho Chen, Chien-Chin Lin, Hwei-Fang Tien, Wen-Chien Chou","doi":"10.1007/s12308-023-00539-6","DOIUrl":"10.1007/s12308-023-00539-6","url":null,"abstract":"Adult B-lineage acute lymphoblastic leukemia (B-ALL) with t(4;11)(q21;q23) is very rare. It is characterized by mixed-lineage leukemia and has the potential for lineage switching during the treatment course. We report the disease course of a patient with B-ALL with t(4;11)(q21;q23) to demonstrate that close monitoring of cell morphology and immunophenotyping is necessary to capture the lineage switch at an early stage. Cell morphology, immunophenotyping, and cytogenetics were used to evaluate the patient's disease status. A 36-year-old woman was diagnosed with B-ALL with t(4;11)(q21;q23), which encodes the KMT2A::AFF1 fusion. After the initial induction chemotherapy, her disease remained refractory, and the patient received salvage immunotherapy with blinatumomab and inotuzumab ozogamicin. However, the ALL did not respond. Repeated bone marrow examinations unexpectedly revealed the emergence of a major population of monoblasts, in addition to a minor population of the original B lymphoblasts. The patient was diagnosed with disease evolution from B-ALL to mixed-phenotype acute leukemia (MPAL, B/myeloid). We present this case to highlight the potential of KMT2A-rearranged B-ALL to undergo lineage switch following B-cell targeted therapy. Patients with this kind of B-ALL should therefore be closely monitored to capture potential changes in the nature of the disease and prompt appropriate treatment.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91155932","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

Publisher Correction: Reviewer Thank You. 出版商更正：感谢审稿人。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 DOI: 10.1007/s12308-023-00540-z

引用次数: 0

Coincidence of plasma cell leukemia and COVID-19: a diagnostic pitfall. 浆细胞白血病与 COVID-19 的并发症：诊断陷阱。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-04-10 DOI: 10.1007/s12308-023-00542-x

Margot Egger, Anne Black, Christoph Robier

{"title":"Coincidence of plasma cell leukemia and COVID-19: a diagnostic pitfall.","authors":"Margot Egger, Anne Black, Christoph Robier","doi":"10.1007/s12308-023-00542-x","DOIUrl":"10.1007/s12308-023-00542-x","url":null,"abstract":"We report the case of a 66-year-old man with a known history of IgD multiple myeloma (MM) which was admitted to hospital because of acute renal failure. Routine PCR testing on admission yielded a positive result for SARS-CoV-2 infection. Examination of the peripheral blood (PB) smear revealed 17% lymphoplasmacytoid cells and a few small plasma cells mimicking morphological changes frequently seen in viral diseases. However, flow cytometric examination showed 20% clonal lambda-restricted plasma cells being consistent with a diagnosis of secondary plasma cell leukemia. Circulating plasma cells as well as similar appearing lymphocyte subtypes such as plasmacytoid lymphocytes are frequently observed in infectious disorders such as COVID-19, so that the lymphocyte morphology in our patient's case could have been easily misinterpreted as typical COVID-19-induced changes. Our observation highlights the importance of incorporating clinical, morphological, and flow-cytometric data in distinguishing between reactive and neoplastic lymphocyte changes because misinterpretation may affect disease classification and, beyond that, clinical decision-making, which may have serious consequences for patients.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139089360","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

Multiparameter flow cytometry and ClonoSEQ correlation to evaluate precursor B-lymphoblastic leukemia measurable residual disease. 多参数流式细胞术和 ClonoSEQ 相关性评估前体 B 淋巴细胞白血病可测量残留疾病。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-04-14 DOI: 10.1007/s12308-023-00544-9

Nouran Momen, Joseph Tario, Kai Fu, You-Wen Qian

{"title":"Multiparameter flow cytometry and ClonoSEQ correlation to evaluate precursor B-lymphoblastic leukemia measurable residual disease.","authors":"Nouran Momen, Joseph Tario, Kai Fu, You-Wen Qian","doi":"10.1007/s12308-023-00544-9","DOIUrl":"10.1007/s12308-023-00544-9","url":null,"abstract":"Measurable residual disease (MRD) detection for precursor B-lymphoblastic leukemia (B-ALL) has become the standard of care. However, the testing methodology has not been standardized. We aim to correlate COG multiparameter flow cytometry (MFC) and ClonoSEQ techniques to assess the test characteristics, to study abnormal immunophenotype for B-ALL MRD, and to observe B-ALL clonal evolution and the impact of blinatumomab therapy on MFC testing. MFC and molecular reports were retrieved from electronic medical records and data was reviewed. Included in this study were 74 bone marrow samples collected from 31 B-ALL patients at our institution between January 2021 and March 2022. COG MFC and ClonoSEQ results were concordant in 59/74 samples (80%) with positive concordant results in 12 samples (16%) and negative concordant results in 47 samples (64%). Discordant results were seen in 15/74 samples (20%), with 14 samples (19%) showing ClonoSEQ + /MFC- results and only 1 sample (1%) showing MFC + /ClonoSEQ- result. ClonoSEQ + /MFC- cases had MRD values ranging from 1 to 1400 cells/million nucleated cells with 86% of cases showing MRD values of < 100 cells/million nucleated cells. Newly identified dominant sequences were detected using ClonoSEQ in 2/31 patients (6%) during follow-up. All 14 bone marrow samples from 8 patients, who had gone through blinatumomab immunotherapy, were MRD negative by MFC, but 3 cases were MRD positive by ClonoSEQ. Our results show strong correlation between COG MFC and ClonoSEQ (r = 0.96), and both methods are complementary. Clonal evolution may occur, and blinatumomab immunotherapy may impact MFC B-ALL MRD evaluation.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77673985","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

Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region. 广西壮族自治区遗传性球形红细胞增多症的基因突变分析。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-05-05 DOI: 10.1007/s12308-023-00545-8

Xingyuan Chen, Lin Liao, Yangyang Wu, Liqun Xiang, Yumei Qin, Meiling Luo, Faquan Lin

{"title":"Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.","authors":"Xingyuan Chen, Lin Liao, Yangyang Wu, Liqun Xiang, Yumei Qin, Meiling Luo, Faquan Lin","doi":"10.1007/s12308-023-00545-8","DOIUrl":"10.1007/s12308-023-00545-8","url":null,"abstract":"Hereditary spherocytosis (HS) is a common, hereditary hemolytic anemia (HHA) that is attributed to the disturbance of five erythrocyte membrane proteins. HS is also common in Guangxi, China. Target region capture high-throughput sequencing technology was used to analyze genetic mutations found in HS patients. Pedigree analysis was also performed, in some cases, to provide an optimized approach for the etiological diagnosis of complex, hereditary hemolytic anemia. Blood samples from the probands and their families were assessed by laboratory tests, target region capture high-throughput sequencing technology, and Sanger sequencing. We detected 79 HS patients from 37 unrelated families. The mutations observed in these patients were found mainly in four HS-related genes. These included SLC4A1, which was mutated in 31.65% of patients (25/79), SPTA1 (30.78% (24/79)), EPB42 (6.33% (5/79)), and SPTB (5.06% (4/79)). Composite genotype was observed in 26.58% (21/79) of patients and included mutations in two or more HS-related genes or mutations in HS-related genes combined with thalassemia or G6PD deficiency. No significant differences in clinical symptoms were found among patients of various genotypes except total bilirubin. Mean reticulocyte volume (MRV) and mean sphered cell volume (MSCV) of the composite genotype were significantly different from other groups. A total of 28 mutation types were found in HS-related genes. Using high-throughput sequencing technology, we also found some cases that had been misdiagnosed. MRV and MSCV are more significant in compound mutations as sensitive determinants of HS. High-throughput sequencing technology can be used to provide a more effective etiological diagnostic method for HS, with high efficiency and specificity.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90410510","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

The new WHO and ICC classification systems for myelodysplastic syndromes and their impact on the clinical laboratory. 新的世界卫生组织和国际协调委员会骨髓增生异常综合征分类系统及其对临床实验室的影响。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-03-07 DOI: 10.1007/s12308-023-00538-7

Frido K Bruehl, Mazen M Osman, Dong Chen, Joanna C Dalland

{"title":"The new WHO and ICC classification systems for myelodysplastic syndromes and their impact on the clinical laboratory.","authors":"Frido K Bruehl, Mazen M Osman, Dong Chen, Joanna C Dalland","doi":"10.1007/s12308-023-00538-7","DOIUrl":"10.1007/s12308-023-00538-7","url":null,"abstract":"The International Consensus Classification (ICC) and World Health Organization (WHO) proposed significant changes to the diagnostic criteria of myelodysplastic syndromes (MDS) in 2022. The impact of these criteria on hematopathology practice is uncertain. This study aims to evaluate the impact of the 2022 ICC and WHO 5th edition classifications on the diagnosis of cytopenias and MDS. Cases from 2021 performed for primary diagnosis of cytopenia(s)/MDS and their clinical, laboratory, and pathologic findings were reviewed and classified according to the new classification systems. The rate of major changes to the diagnosis was determined and potential pitfalls in the diagnostic approach, laboratory workflow, and clinical communication challenges were investigated. A total of 49 cases were recruited. Major changes to the diagnostic entities were made in 18/49 (37%) cases according to the WHO 5th edition, and 23/49 (47%) cases classified according to the ICC. The difference was accounted for by five cases of MDS-EB2 (revised WHO 4th edition) classified as MDS/AML (major change) in the ICC in contrast to no significant change (MDS-IB2) in the WHO 5th edition. MDS-SLD cases were not subject to major reclassification according to either system. The new molecularly defined categories of CCUS/CHIP, MDS-SF3B1, and MDS with biallelic TP53 mutations were almost identically represented in both systems in our cohort. A case of MDS-MLD was reclassified as CMML by both classification systems. There are few but important differences between the new MDS classification systems. A preimplementation assessment is helpful to identify diagnostic and potential clinical impacts of their adoption.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72490402","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

B-lymphoblastic leukemia/lymphoma with MYC and BCL2 gene rearrangements shows evidence for clonal evolution and mitotic recombination. 带有 MYC 和 BCL2 基因重排的 B 淋巴细胞白血病/淋巴瘤显示出克隆进化和有丝分裂重组的证据。

IF 0.6 4区医学

Journal of Hematopathology Pub Date : 2023-06-01 Epub Date: 2023-04-20 DOI: 10.1007/s12308-023-00541-y

Steven A Schichman, Andrea L Penton, Sai Nikhila Ghanta, Manojna Konda, Peter R Papenhausen

{"title":"B-lymphoblastic leukemia/lymphoma with MYC and BCL2 gene rearrangements shows evidence for clonal evolution and mitotic recombination.","authors":"Steven A Schichman, Andrea L Penton, Sai Nikhila Ghanta, Manojna Konda, Peter R Papenhausen","doi":"10.1007/s12308-023-00541-y","DOIUrl":"10.1007/s12308-023-00541-y","url":null,"abstract":"Background: B-lymphoblastic leukemia/lymphomas (B-ALL/LBL) are uncommon neoplasms that may be associated with a variety of cytogenetic and molecular changes. The mechanisms by which these changes arise have not been fully described.Aims/purpose: This report describes an unusual case of B-ALL/LBL with complex clonal evolution that includes BCL2 and MYC gene rearrangements.Methods: Immunophenotyping was performed by immunohistochemistry and flow cytometry. Traditional G-band karyotyping was accompanied by fluorescence in-situ hybridization (FISH) using break-apart and dual fusion probes. Single nucleotide polymorphisms were assessed using a high-density DNA microarray.Results: The karyotype of the blasts showed reciprocal translocation of chromosomes 4 and 18, reciprocal translocation of chromosomes 8 and 14 with two copies of the oncogenic translocation derivative(14)t(8;14), and no normal chromosome 14. FISH studies showed complex IGH-BCL2 and IGH-MYC fusion signals.Conclusions: A clonal evolution model involving multiple chromosomal translocations and mitotic recombination is postulated to account for the karyotype, FISH, and microarray results but leaves unresolved the exact order of the evolutionary changes.","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10766798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84889969","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