Journal of HematopathologyPub Date : 2023-04-10eCollection Date: 2023-06-01DOI: 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":"<p><p>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.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-04-10","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":"9547289","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}
{"title":"Anaplasmosis and Lyme disease.","authors":"Amir A Mahmoud, Ali Abdelhay, Basant Eltaher","doi":"10.1007/s12308-022-00525-4","DOIUrl":"10.1007/s12308-022-00525-4","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89011374","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}
{"title":"Myeloid and lymphoid neoplasm with novel complex translocation: unusual case report with T-lymphoblastic lymphoma, myeloid hyperplasia, eosinophilia, basophilia, and t(1;8;10)( (p31;q24;q11.2).","authors":"Mansour S Aljabry","doi":"10.1007/s12308-022-00528-1","DOIUrl":"10.1007/s12308-022-00528-1","url":null,"abstract":"<p><p>Myeloid and lymphoid neoplasms with eosinophilia (M/Ls-Eo) encompass heterogeneous but aggressive hematopoietic disorders triggered by fusion genes or mutations that typically lead to constitutive overexpression of tyrosine kinase. The occurrence of T-lymphoblastic lymphoma in the setting of M/Ls-Eo has been reported rarely in the literature. Herein, we present an unusual case of a 28-year-old male patient who presented with massive lymphadenopathy and T-lymphoblastic lymphoma in the lymph node occurring concurrently with myeloid hyperplasia, eosinophilia and basophilia in peripheral blood and bone marrow biopsy. The syndrome was associated with a novel complex karyotype involving der(8)t(1;8;10)(p31;q24;q11.2). The FISH study was negative for BCR::ABL1, JAK2, PDGFRA, PDGFRB, and FGFR1 rearrangements. The patient's clinical course was aggressive and resistant to multiple lines of intensive chemotherapy regimens. Therefore, he underwent allogenic stem cell transplantation with a fully matched donor. A brief review of the occurrence of T-LBL in conjunction with M/Ls-Eo neoplasm was made with a special focus on molecular aspects.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90506160","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}
{"title":"TRBC1 enables identification of an otherwise immunophenotypically silent case of angioimmunoblastic T-cell lymphoma.","authors":"Jingjing Zhang, Sebastian Fernandez-Pol","doi":"10.1007/s12308-023-00533-y","DOIUrl":"10.1007/s12308-023-00533-y","url":null,"abstract":"","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87329368","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}
{"title":"Flow cytometric measurable residual disease in adult acute myeloid leukemia: a preliminary report from Eastern India.","authors":"Neha Singh, Avinash Gupta, Sujeet Kumar, Gojiri Mawalankar, Bhumika Gupta, Nilesh Dhole, RohitKumar Kori, Anil Singh","doi":"10.1007/s12308-022-00527-2","DOIUrl":"10.1007/s12308-022-00527-2","url":null,"abstract":"<p><p>Presence of measurable residual disease (MRD) in acute myeloid leukemia (AML) is considered to be an independent predictor of relapse and poorer survival outcomes. MRD can be measured by flow cytometric, quantitative PCR, and NGS-based assays at varying sensitivities. There is scant Indian data on different aspects of MFC-MRD in AML including analysis strategies as well as molecular spectrum, clinical correlation, etc. This retrospective observational study included all newly diagnosed patients of acute myeloid leukemia in whom complete baseline diagnostic workup was available including flow cytometry and cytogenetic and molecular studies. Among patients with cytogenetic abnormalities (n = 25), no statistically significant correlation was observed between flow cytometric MRD positivity and presence of ≥ 3 mutations as well as relapsed disease. However, in AML patients with normal karyotype (n = 32), MRD positivity correlated strongly with relapsed status (p = 0.02), although no significant correlation was found with respect to FLT3 mutation, IDH mutation, NPM1 mutation, or complex genotype. Interestingly, 90.5% of MRD-positive patients belonged to ELN (2017) intermediate to high-risk category unlike only 9.5% in the good risk category (p = 0.0002). Median relapse-free survival was 8.5 months with a follow-up range of 3-24 months. On the basis of the observations of the present study, it can be clearly inferred that MRD status affects relapse status in the normal karyotype subgroup and can delineate patients who require stem cell transplantation in addition to molecular signatures.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90669289","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}
Eliza Zaremba-Pataj, Elżbieta Patkowska, Agnieszka Krzywdzińska, Anna Szumera-Ciećkiewicz, Justyna Chlebowska-Tuz
{"title":"Acute mast cell leukemia without KIT D816V mutation and lack of CD2 and CD25-a case report of rare entity.","authors":"Eliza Zaremba-Pataj, Elżbieta Patkowska, Agnieszka Krzywdzińska, Anna Szumera-Ciećkiewicz, Justyna Chlebowska-Tuz","doi":"10.1007/s12308-022-00526-3","DOIUrl":"10.1007/s12308-022-00526-3","url":null,"abstract":"<p><p>Systemic mastocytosis (SM) is a rare hematological neoplasm caused by the excessive proliferation of pathological mast cells that accumulate in the bone marrow (BM) and other extracutaneous organs leading to multi-organ damage and failure. Mast cell leukemia (MCL) is a rare form of systemic mastocytosis, accounting for < 1% of all cases of mastocytosis. MCL usually behaves aggressively with poor responses to current treatment options. Here, we report a diagnostic challenge with the leukemic subtype of MCL with a primary suspicion of pancreatic cancer. A cytomorphological, immunophenotypic, and histopathological examination of the bone marrow was performed. The diagnosis was based on the presence of ≥ 20% atypical and immature mast cells in the bone marrow and ≥ 10% mast cells among the peripheral white blood cells. The neoplastic cell population was identified as mast cell lineage by the expression of CD117 and tryptase. Only 3% of neoplastic cells displayed surface markers characteristic for clonal mast cells: CD25 and CD2. The D816V KIT mutation was not found. Neoplastic mast cells expressed CD30, a marker that is currently considered as a new minor criterion for SM. In the presented case, the primary suspicion of pancreatic cancer with osteosclerotic, lung, and pleural metastases was misleading, and a differential diagnosis based on hematological findings was performed. The patient's severe symptoms were likely the result of organ damage from mast cell infiltration. Despite the use of intensive acute myeloid leukemia (AML)-like polychemotherapy, the patient died during the course of post-induction myelosuppression due to bleeding complications.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75720169","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}
{"title":"A case of clinically aggressive EBV-negative ENKTL in a non-Asian female patient.","authors":"Thomas Kent, Gregory Scott, Robert Seifert","doi":"10.1007/s12308-023-00529-8","DOIUrl":"10.1007/s12308-023-00529-8","url":null,"abstract":"<p><strong>Background: </strong>The patient was a 65-year-old White woman who presented to dermatology with a painless, rapidly growing exophytic nodule on her left upper cheek.</p><p><strong>Aims/purpose: </strong>In this case report, we aim to demonstrate the difficulty of diagnosing Epstein-Barr virus-negative extranodal NK cell lymphomas given the broad differential of NK cell lymphomas and the rarity of EBV-negative extranodal NK cell lymphoma.</p><p><strong>Methods: </strong>Immunohistochemical studies confirmed the diagnosis of cutaneous, extranodal NK cell lymphoma. Interestingly, Epstein-Barr virus in situ hybridization was negative, which is unusual for most NK cell lymphomas.</p><p><strong>Results/conclusions: </strong>In our view, a combination of immunohistochemistry, clonality assessment, sequencing, and flow cytometric studies is required.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77129979","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}
{"title":"Mixed-phenotype acute leukemia, T/megakaryoblastic: does it really exist?","authors":"Neelum Mansoor, Omer Javed, Naila Rafiq, Anila Aali, Fatima Meraj","doi":"10.1007/s12308-023-00535-w","DOIUrl":"10.1007/s12308-023-00535-w","url":null,"abstract":"<p><p>Mixed-phenotype acute leukemias (MPAL) account for < 4% of all cases of acute leukemias. These are a heterogeneous group of leukemias grouped together by the WHO classification as \"rare subtypes.\" The diagnosis and treatment of MPAL is extremely challenging particularly for low middle income countries. Of these, B/myeloid and T/myeloid combinations are relatively common subtypes. However, megakaryoblastic and erythroid lineages in combination with other lineages are still rare enough to not even be addressed in the WHO classification. To date, there have been only a few reports of mixed B or T cell and megakaryocytic or mixed B or T cell and erythroid leukemias. We report the clinical presentation, diagnostic profile, and disease course of MPAL cases with a biphenotypic pattern consistent with T/megakaryoblastic lineage which is not yet defined in WHO classification. These cases were phenotyped using 8-color flow cytometry (BD FACS CANTO-II) using an extensive panel of markers. Interphase fluorescence in situ hybridization (FISH) was done using dual color dual fusion probes for BCR::ABL1, RUNX1::RUNX1T1, and ETV6::RUNX1, while MLL and CBFB gene rearrangement was tested by break-apart probes. Karyotyping was performed using the conventional GTG-banding technique. Both FISH and karyotyping were analyzed by the automated cell imaging system Leica Biosystems, using Cytovision MB8. The cases presented here satisfy the criteria for both T-lineage assignment (cyCD3 intensity reaches that of normal T-lymphocytes) and acute megakaryoblastic leukemia (≥ 1 megakaryocytic marker in > 50% blasts) and thus represent the first documented examples of this unusual entity from Pakistan. It is crucial to report these cases to gather more data about clinical presentation, diagnostic profile, and disease course. Additionally, the reported cases highlight the limitations of existing classifications which do not address rare subtypes. More importantly, T/megakaryoblastic MPAL needs to be included in the WHO classification as a separate entity.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88623905","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}
Yunfei Shi, Lan Mi, Yumei Lai, Min Zhao, Ling Jia, Tingting Du, Yuqin Song, Xianghong Li
{"title":"PD-L1 immunohistochemistry assay optimization to provide more comprehensive pathological information in classic Hodgkin lymphoma.","authors":"Yunfei Shi, Lan Mi, Yumei Lai, Min Zhao, Ling Jia, Tingting Du, Yuqin Song, Xianghong Li","doi":"10.1007/s12308-023-00530-1","DOIUrl":"10.1007/s12308-023-00530-1","url":null,"abstract":"<p><p>Overexpression of PD-L1 can be a predictive marker for anti-PD-1 therapeutic efficacy in classic Hodgkin lymphoma (CHL); however, harmonization of different IHC assays remains to be accomplished, and interpretations of PD-L1 immunostaining results remain controversial in CHL. In this study, we sought to optimize the PD-L1 immunohistochemistry (IHC) assay in CHL. All tests were performed on a tumour tissue microarray established from 54 CHL cases. Three IHC antibodies (405.9A11, SP142, 22C3) for detecting PD-L1 expression were compared semi quantitatively with the RNAscope assay (No. 310035, ACD), and the difference in the expression in background immune cells (ICs) between assays and the associations of expression levels with densities of TILs/TAMs were also analysed. 405.9A11 demonstrated best specificity in HRS cells and best sensitivity in ICs. Positive expression of PD-L1 was more frequent in ICs (85.2%) than in HRS cells (48.1%). Different subgroups of background ICs, including tumour-associated macrophages (TAMs), were assessed and scored for CD4, CD8, FOXP3, and CD163 expression. PD-L1 expression on ICs was the factor most associated with the density of TAMs. 405.9A11 provided the most convincing PD-L1 expression results. Pathologists should report PD-L1 expression in a combined manner, including both the status of HRS cells and the percentage of PD-L1-positive ICs.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10766715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73242409","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}
Sebastian Fernandez-Pol, Cristiane R Ferreira, Vidhya Manohar, José Antonio Sanches, Luis A P C Lage, Juliana Pereira, Maria C N Zerbini, Dita Gratzinger, Yasodha Natkunam
{"title":"Comparison of two immunohistochemical staining protocols for ALK demonstrates non-inferiority of a 5A4 clone-based protocol versus an ALK01 clone-based protocol for the diagnosis of ALK + anaplastic large cell lymphoma.","authors":"Sebastian Fernandez-Pol, Cristiane R Ferreira, Vidhya Manohar, José Antonio Sanches, Luis A P C Lage, Juliana Pereira, Maria C N Zerbini, Dita Gratzinger, Yasodha Natkunam","doi":"10.1007/s12308-023-00531-0","DOIUrl":"10.1007/s12308-023-00531-0","url":null,"abstract":"<p><p>Detection of ALK rearrangement and/or expression of the ALK protein is an essential component in the evaluation of many neoplasms. Variability has been reported in the ability of different antibody clones to detect ALK expression. The ALK01 clone is commonly used to detect ALK expression in ALK-positive anaplastic large cell lymphoma (ALK + ALCL). However, this clone has been shown to lack sensitivity when used for solid tumors. The aim of this study was to determine if our high-sensitivity 5A4-based immunohistochemistry protocol is non-inferior to our ALK01-based protocol for the detection of ALK expression in ALK + ALCL. To compare the two protocols, we stained tissue microarrays of 126 hematolymphoid neoplasms and an additional 21 primary cutaneous ALK-negative anaplastic large cell lymphomas with both protocols. All 28 ALK + ALCL samples that were positive for the ALK01 antibody were also positive for the 5A4 clone. Three cases on the tissue microarray that were negative with the ALK01 antibody were clearly positive with the 5A4 antibody. We subsequently stained whole tissue sections of these three cases with the ALK01 antibody and found that these three cases were indeed positive with the ALK01 protocol, suggesting that the absence of staining on the tissue microarray samples was due to a combination of sampling error as well as a dimmer signal with the ALK01 protocol. Our study demonstrates that our 5A4-based protocol is non-inferior to the ALK01 antibody for the diagnosis of ALK-positive anaplastic large cell lymphoma, thus allowing our laboratory to discontinue the use of the ALK01-based protocol.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10766797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79235244","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}