American journal of clinical pathology最新文献

筛选
英文 中文
Plexiform fibrohistiocytic tumor: A series of 10 case studies. 丛状纤维组织细胞瘤:10 例系列研究。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-17 DOI: 10.1093/ajcp/aqae069
Yan Xia Wang, Li Li Ma, Wan Ni Xu, Pei Zhen Hu, Shou Jing Yang
{"title":"Plexiform fibrohistiocytic tumor: A series of 10 case studies.","authors":"Yan Xia Wang, Li Li Ma, Wan Ni Xu, Pei Zhen Hu, Shou Jing Yang","doi":"10.1093/ajcp/aqae069","DOIUrl":"https://doi.org/10.1093/ajcp/aqae069","url":null,"abstract":"<p><strong>Objectives: </strong>We sought to investigate the clinicopathologic features and differential diagnosis of plexiform fibrohistiocytic tumor (PFHT) and its pathogenesis.</p><p><strong>Methods: </strong>Ten cases of PFHT were collected from Xi Jing Hospital, Fourth Military Medical University, from September 2008 to December 2022 for clinical data as well as microscopic and immunohistochemical observation. CCND1 gene amplification and break were assayed by fluorescence in situ hybridization (FISH).</p><p><strong>Results: </strong>We report 10 cases of PFHT according to histologic classification. Seven cases were of histiocytoid type, and 3 had mucous degeneration in the nodules. One case was of fibroblastic type, which was mainly composed of fibroblast-like cells. Two cases were of mixed type. Immunohistochemically, the osteoclast-like multinucleated giant cells, histiocyte-like cells, and occasional spindle cells in the adjacent fascicles were reactive for CD68 (10/10), CD163 (5/8), CD10 (8/8), cyclin D1 (8/8), CDK4 (5/8), β-catenin (4/6), MITF (2/6), and PGP9.5 (4/5). Vimentin (9/9) was strongly positive in tumor cells and peripheral fibroblast-like cells. The positive index of Ki-67 was 5% to 40%, with an average of 20%. The FISH analysis showed neither amplification nor break of the CCND1 gene. All cases underwent surgical resection, and patients were followed up for 9 months to 11 years. Only 2 cases recurred.</p><p><strong>Conclusions: </strong>Plexiform fibrohistiocytic tumor is a low-grade malignant soft tissue neoplasm. The diagnosis mainly depends on histopathologic and immunohistochemical markers. Cyclin D1 and CD10 expression has diagnostic value for the diagnosis and differential diagnosis of PFHT combined with its plexiform morphology. The overexpression of cyclin D1 suggests an involvement of cell cycle regulatory genes in the pathogenesis of PFHT.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330207","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
Mobile calculator application for estimating human erythrocyte antigen frequency in Korea. 用于估算韩国人类红细胞抗原频率的移动计算器应用程序。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-13 DOI: 10.1093/ajcp/aqae070
Dong Woo Shin, Yun Ji Hong, Kyoung Un Park
{"title":"Mobile calculator application for estimating human erythrocyte antigen frequency in Korea.","authors":"Dong Woo Shin, Yun Ji Hong, Kyoung Un Park","doi":"10.1093/ajcp/aqae070","DOIUrl":"https://doi.org/10.1093/ajcp/aqae070","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to establish a comprehensive human erythrocyte antigen (HEA) frequency data set for Koreans. It also sought to develop a mobile app that facilitates the calculation of the frequencies of specific antigen-negative red blood cell units and the average number of units required for antigen typing.</p><p><strong>Methods: </strong>Human erythrocyte antigen frequencies were compiled from large-scale blood donor data and 5 previous papers. Based on the collected data, we developed a mobile calculator app for HEA frequency and evaluated its usability.</p><p><strong>Results: </strong>Human erythrocyte antigen frequency data for 20 blood group systems, including the ABO, Rh, MNS, Duffy, Kidd, and Diego systems, were established. The app was designed to enable users to select the desired phenotype from a drop-down menu and display the calculated frequency at the bottom. The number of units required for antigen typing to find 1 compatible red blood cell unit was also displayed. Five users participated in app evaluation and rated the functionality and information categories highly. In quizzes prompting users to calculate frequencies using the app, all participants provided correct answers, confirming the app's user-friendly functionality.</p><p><strong>Conclusions: </strong>This app, which encompasses comprehensive HEA frequency data, is expected to find multiple uses in transfusion medicine, including optimizing blood bank workflow and defining rare blood groups in Korea.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141309421","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
β2-microglobulin expression is associated with aggressive histology, activated tumor immune milieu, and outcome in colon carcinoma. β2-微球蛋白的表达与侵袭性组织学、激活的肿瘤免疫环境和结肠癌的预后有关。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-13 DOI: 10.1093/ajcp/aqae066
Soo Hyun Lee, Amaya Pankaj, Steffen Rickelt, David Ting, Cristina Ferrone, Deepa T Patil, Omer Yilmaz, David Berger, Vikram Deshpande, Osman Yilmaz
{"title":"β2-microglobulin expression is associated with aggressive histology, activated tumor immune milieu, and outcome in colon carcinoma.","authors":"Soo Hyun Lee, Amaya Pankaj, Steffen Rickelt, David Ting, Cristina Ferrone, Deepa T Patil, Omer Yilmaz, David Berger, Vikram Deshpande, Osman Yilmaz","doi":"10.1093/ajcp/aqae066","DOIUrl":"https://doi.org/10.1093/ajcp/aqae066","url":null,"abstract":"<p><strong>Objectives: </strong>We sought to assess the expression of human leukocyte antigen (HLA) proteins and β2-microglobulin (B2M) in tumor cells and the relationship with immune microenvironment and outcome in colorectal cancer (CRC).</p><p><strong>Methods: </strong>A total of 953 CRC cases were evaluated by immunohistochemistry for HLA class I, HLA class II, and B2M. The expression level of these biomarkers was correlated with clinicopathologic information, BRAF V600E and mismatch repair (MMR) proteins, and the quantitated expression levels of immune cells (CD8 and CD163) and immune regulatory proteins (FoxP3, programmed cell death 1 ligand 1 [PD-L1], and LAG3).</p><p><strong>Results: </strong>We found that B2M-low tumors were statistically correlated with aggressive histologic features, including higher stage, higher grade, extramural venous invasion, perineural invasion, and distant metastasis. Expression of B2M was positively correlated (R2 = 0.3) and significantly associated with MMR-deficient tumors (P < .001); B2M-low tumors were also associated with an \"immune cold\"' microenvironment, including a reduced number of immune cells (CD8 and CD163), reduced expression of immune regulatory proteins by immune cells (PD-L1, FoxP3, and LAG3), and reduced tumor cell expression of PD-L1. These B2M-low tumors correlated with lower disease-specific survival (P = .018), a finding that maintained significance only for the proficient MMR cohort (P = .037).</p><p><strong>Conclusions: </strong>Our findings suggest that B2M expression may support predictive models for both outcome and checkpoint inhibitor therapy treatment response for colorectal adenocarcinoma.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141309422","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
Diagnostic accuracy of upper tract urothelial carcinoma using biopsy, urinary cytology, and nephroureterectomy specimens: A tertiary cancer center experience. 利用活组织检查、尿液细胞学检查和肾切除术标本诊断上尿路上皮癌的准确性:一家三级癌症中心的经验。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-11 DOI: 10.1093/ajcp/aqae065
Jianping Zhao, Yuan Shen, Ming Guo, Surena F Matin, Donna E Hansel, Charles C Guo
{"title":"Diagnostic accuracy of upper tract urothelial carcinoma using biopsy, urinary cytology, and nephroureterectomy specimens: A tertiary cancer center experience.","authors":"Jianping Zhao, Yuan Shen, Ming Guo, Surena F Matin, Donna E Hansel, Charles C Guo","doi":"10.1093/ajcp/aqae065","DOIUrl":"https://doi.org/10.1093/ajcp/aqae065","url":null,"abstract":"<p><strong>Objectives: </strong>We studied the diagnostic accuracy and discordance of upper tract urothelial carcinoma (UTUC) by comparing biopsy and urinary cytology with matched nephroureterectomy specimens.</p><p><strong>Methods: </strong>Sixty-nine patients with UTUC without neoadjuvant treatment were retrospectively identified who had matched biopsy and nephroureterectomy specimens. Twenty patients had concurrent upper tract cytology. H&E and cytology slides were re-reviewed. Statistical analysis was performed.</p><p><strong>Results: </strong>Patients included 48 men and 21 women with a mean age of 69 years. A concordant grade between biopsy and surgical specimen was present in 49 (71%) patients. The mean size of biopsy specimens in the discordant group was significantly smaller than that in the concordant group. Invasion was evaluated in 48 biopsy cases that had adequate subepithelial tissue, and 33 of them were diagnosed with concordant invasion status. Mean tumor size in both tumor grade and invasion discordant groups was significantly larger than that in the concordant group. High-grade urothelial carcinoma was detected in 84% of cases using urinary cytology.</p><p><strong>Conclusions: </strong>Our study demonstrates the diagnostic challenges of UTUC on small biopsy specimens. Biopsy specimen size and tumor size are significantly associated with the diagnostic discordance. Upper tract cytology showed high diagnostic accuracy and should be complementary to the biopsy.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141299707","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
To normalize or not?: Dilute Russell viper venom time testing. 正常化还是不正常化?稀释罗素蝰蛇毒时间测试。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-03 DOI: 10.1093/ajcp/aqae004
Yong Zhang, Michael Creer, Olajumoke O Oladipo
{"title":"To normalize or not?: Dilute Russell viper venom time testing.","authors":"Yong Zhang, Michael Creer, Olajumoke O Oladipo","doi":"10.1093/ajcp/aqae004","DOIUrl":"10.1093/ajcp/aqae004","url":null,"abstract":"<p><strong>Objectives: </strong>We conducted a comparison between the nonnormalized dilute Russell viper venom time (dRVVT) screen/confirm ratio (SCR) in patient plasma and the normalized SCR obtained using reference pooled plasma. The aim was to assess the impact of normalization on the lupus anticoagulant (LA) status in our patient population.</p><p><strong>Methods: </strong>In our retrospective analysis, we included a total of 464 patients who underwent dRVVT testing. For those with positive screens, mixing studies were performed, followed by confirmatory testing. Additionally, the dRVVT of reference pooled plasma was measured. A positive conventional (nonnormalized) or normalized SCR was defined as an SCR greater than or equal to 1.2.</p><p><strong>Results: </strong>In total, 5.6% (26) of the 464 samples tested were confirmed positive for LA by both methods, out of which 12 had a clinical history of thrombosis. Although a statistically significant difference between the 2 groups (P = .0096) was found, the magnitude of absolute mean SCR differences (bias) was 0.04 (2.51%). There was 100% concordance of testing results between the 2 groups.</p><p><strong>Conclusions: </strong>The lupus anticoagulant status by the dRVVT assay was not changed based on normalization. Normalization was of no clinical benefit in our patient population; therefore, there was no need for the extra calculation step. Normalization may be useful for intermethod and interlaboratory studies and not for within-method LA detection.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899186","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
Assessing the feasibility of a multimodal liquid biopsy for the diagnosis of HPV-associated oropharyngeal squamous cell carcinoma. 评估多模式液体活检用于诊断HPV相关口咽鳞状细胞癌的可行性。
IF 2.3 4区 医学
American journal of clinical pathology Pub Date : 2024-06-03 DOI: 10.1093/ajcp/aqad185
James S Lewis, Saskia Naegele, Vasileios Efthymiou, Mitra Mehrad, Kim A Ely, Tim Waterboer, Krystle A Lang Kuhs, Seth J Davis, Kelsey Richard, Dipon Das, Daniel L Faden
{"title":"Assessing the feasibility of a multimodal liquid biopsy for the diagnosis of HPV-associated oropharyngeal squamous cell carcinoma.","authors":"James S Lewis, Saskia Naegele, Vasileios Efthymiou, Mitra Mehrad, Kim A Ely, Tim Waterboer, Krystle A Lang Kuhs, Seth J Davis, Kelsey Richard, Dipon Das, Daniel L Faden","doi":"10.1093/ajcp/aqad185","DOIUrl":"10.1093/ajcp/aqad185","url":null,"abstract":"<p><strong>Objectives: </strong>In this feasibility study, we explored the combined use of circulating tumor human papillomavirus (HPV) DNA (ctHPVDNA) and HPV serology as diagnostic tests for HPV-associated oropharyngeal squamous cell carcinoma (OPSCC).</p><p><strong>Methods: </strong>Among patients with research-banked serum or plasma at diagnosis, IgG antibodies to oncoproteins from HPV types 16, 18, 31, 33, 35, 45, 52, and 58 were detected with multiplex serology. Positivity for HPV 16 was defined based on detection of combinations of anti-E6, E1, E2, and E7 and for other high-risk types on detection of anti-E6 and anti-E7. Circulating tumor HPV DNA was detected by custom digital droplet polymerase chain reaction (ddPCR) assays for HPV types 16, 18, 33, 35, and 45. p16 immunohistochemistry and high-risk HPV RNA in situ hybridization (ISH) using a cocktail of 18 high-risk HPV types were performed on tissue.</p><p><strong>Results: </strong>Of 75 patients, 67 (89.3%) were HPV-associated (p16 and HPV RNA ISH positive) and 8 (10.7%) were HPV-independent. All 8 HPV-independent patients were seronegative and negative for ctHPVDNA (100% specificity). Serology was positive in 53 (79.1%) of 67 HPV-associated patients, while ddPCR was positive for ctHPVDNA in 59 (88.6%) of 67 HPV-associated patients. Requiring both tests to be positive resulted in a sensitivity of 50 (74.6%) of 67 while combining assays (either positive) improved sensitivity to 62 (92.6%) of 67.</p><p><strong>Conclusions: </strong>Compared to HPV RNA ISH, HPV serology and ctHPVDNA are sensitive and highly specific biomarkers for HPV-associated OPSCC at the time of presentation.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139721177","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
Characterization of T-/natural killer cell lymphoproliferative neoplasms associated with systemic, chronic, active Epstein-Barr virus in adults: A report of 5 cases in a Western population. 与成人全身性、慢性、活动性 Epstein-Barr 病毒相关的 T-/ 自然杀伤细胞淋巴增殖性肿瘤的特征:西方人群中 5 例病例的报告。
IF 2.3 4区 医学
American journal of clinical pathology Pub Date : 2024-06-03 DOI: 10.1093/ajcp/aqad184
Carlos Murga-Zamalloa, Michael Brandon Stone, Marc G Gutierrez, Neha Rajendra Hippalgaonkar, Hamza Tariq, Morteza Sadeh, Ankit Mehta, Irum Khan, Serhan Alkan, Kedar V Inamdar, Ryan Wilcox, Amir Behdad
{"title":"Characterization of T-/natural killer cell lymphoproliferative neoplasms associated with systemic, chronic, active Epstein-Barr virus in adults: A report of 5 cases in a Western population.","authors":"Carlos Murga-Zamalloa, Michael Brandon Stone, Marc G Gutierrez, Neha Rajendra Hippalgaonkar, Hamza Tariq, Morteza Sadeh, Ankit Mehta, Irum Khan, Serhan Alkan, Kedar V Inamdar, Ryan Wilcox, Amir Behdad","doi":"10.1093/ajcp/aqad184","DOIUrl":"10.1093/ajcp/aqad184","url":null,"abstract":"<p><strong>Objectives: </strong>Because of its low frequency in adult populations and clinical and laboratory overlap with hemophagocytic lymphohistiocytosis and other T-cell lymphomas, T-cell/natural killer (NK) cell systemic, chronic, active Epstein-Barr virus (EBV) (T/NK sCAEBV) infection remains underdiagnosed, preventing critical, prompt therapeutic interventions.</p><p><strong>Methods: </strong>We report a 5-case series that included 2 adult patients with T/NK sCAEBV and 3 additional adult patients with T/NK lymphomas with concomitant systemic EBV infection to review these entities' overlapping diagnostic and clinical features.</p><p><strong>Results: </strong>Approximately 95% of the world population has been infected with EBV during their lifetime, and infection is usually asymptomatic, with symptomatic cases eventually resolving spontaneously. A small subset of immunocompetent patients develops CAEBV, a life-threatening complication resulting from EBV-infected T-cell or NK cell neoplastic lymphocytes. The sites of end-organ damage in T/NK sCAEBV demonstrate pathologic findings such as reactive lymphoid proliferations, making the diagnosis difficult to establish, with the only curative option being an allogeneic hematopoietic stem cell transplant.</p><p><strong>Conclusions: </strong>This diagnosis is most prevalent in Asia, with few cases reported in Western countries. Adult age is an independent risk factor for poor outcomes, and most cases are diagnosed in pediatric populations.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139721199","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
Correction to: Measuring the performance of an artificial intelligence-based robot that classifies blood tubes and performs quality control in terms of preanalytical errors: A preliminary study. 更正:测量基于人工智能的机器人在分析前误差方面对血管进行分类和质量控制的性能:初步研究。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-03 DOI: 10.1093/ajcp/aqae025
{"title":"Correction to: Measuring the performance of an artificial intelligence-based robot that classifies blood tubes and performs quality control in terms of preanalytical errors: A preliminary study.","authors":"","doi":"10.1093/ajcp/aqae025","DOIUrl":"10.1093/ajcp/aqae025","url":null,"abstract":"","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139721201","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
Multicolor flow cytometric immunophenotyping is highly sensitive and specific in identifying aberrant mast cells in the diagnostic workup of systemic mastocytosis. 在系统性肥大细胞增多症的诊断工作中,多色流式细胞免疫分型技术在识别异常肥大细胞方面具有高度敏感性和特异性。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-03 DOI: 10.1093/ajcp/aqad187
Okechukwu Valentine Nwogbo, Hong Fang, Wei Wang, Jie Xu, Roberto N Miranda, Prithviraj Bose, Chi Young Ok, Jeffrey L Jorgensen, L Jeffrey Medeiros, Sa A Wang
{"title":"Multicolor flow cytometric immunophenotyping is highly sensitive and specific in identifying aberrant mast cells in the diagnostic workup of systemic mastocytosis.","authors":"Okechukwu Valentine Nwogbo, Hong Fang, Wei Wang, Jie Xu, Roberto N Miranda, Prithviraj Bose, Chi Young Ok, Jeffrey L Jorgensen, L Jeffrey Medeiros, Sa A Wang","doi":"10.1093/ajcp/aqad187","DOIUrl":"10.1093/ajcp/aqad187","url":null,"abstract":"<p><strong>Objectives: </strong>Flow cytometric immunophenotyping (FCI) is a fast and sensitive method for characterizing hematolymphoid neoplasms. It is not widely used in the workup of systemic mastocytosis (SM), in part because of the technical challenges and in part because the utility of FCI in assessing mast cells is not well understood. The objectives of this study were to assess the diagnostic utility of FCI in establishing a diagnosis of SM and distinguishing SM from nonneoplastic mast cells and to examine the immunophenotypic findings among SM subtypes.</p><p><strong>Methods: </strong>We performed FCI on bone marrow samples suspicious for SM using a panel consisting of CD2, CD25, CD30, CD45, CD117, and HLA-DR.</p><p><strong>Results: </strong>The cohort included 88 SM cases: 67 without an associated hematologic neoplasm (AHN) (PureSM) and 21 with an AHN (SM-AHN). We also assessed 40 normal/reactive controls. Overall, FCI was adequate for interpretation in 87 of 88 (99%) cases and detected at least 1 immunophenotypic aberrancy in 100% of SM cases. CD2, CD25, and CD30 were positive in 78%, 98%, and 90% of SM cases vs 0%, 13%, and 13% of cases with normal/reactive mast cells (P < .0001 for all). Two or 3 abnormalities were observed in 92% of SM cases but not in normal/reactive mast cells. Among SM cases, SM-AHN showed statistically significant less CD2 (38% vs 91%, P < .0001) and less co-expression of all 3 aberrant markers (CD2, CD25, and CD30 positive in 38% vs 86% of cases; P < .0001) than PureSM. Immunohistochemical analysis showed consistently weaker or focal expression of CD2, CD25, and CD30 than FCI, with CD2 and CD30 being falsely negative in 40% and 50% cases, respectively. A KIT D816V mutation was detected in 67% of PureSM cases and 76% of SM-AHN cases.</p><p><strong>Conclusions: </strong>Flow cytometric immunophenotyping is a quick, sensitive, high-yield tool for evaluating the immunophenotype of mast cells. An abnormal FCI finding should prompt careful histologic evaluation and sensitive KIT D816V mutation testing to address the possibility of SM. CD2, CD25, and CD30 are important markers for the detection of immunophenotypic aberrancy of mast cells, and their frequencies of aberrancy differ across SM subtypes.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899152","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
Comprehensive morphologic characterization of bone marrow biopsy findings in a large cohort of patients with VEXAS syndrome: A single-institution longitudinal study of 111 bone marrow samples from 52 patients. 大样本 VEXAS 综合征患者骨髓活检结果的综合形态特征:对52名患者的111份骨髓样本进行的单机构纵向研究。
IF 3.5 4区 医学
American journal of clinical pathology Pub Date : 2024-06-03 DOI: 10.1093/ajcp/aqad186
Horatiu Olteanu, Mrinal Patnaik, Matthew J Koster, Jennifer L Herrick, Dong Chen, Rong He, David Viswanatha, Kenneth J Warrington, Ronald S Go, Abhishek A Mangaonkar, Taxiarchis Kourelis, Alexander Hines, Sarah E Gibson, Jess F Peterson, Kaaren K Reichard
{"title":"Comprehensive morphologic characterization of bone marrow biopsy findings in a large cohort of patients with VEXAS syndrome: A single-institution longitudinal study of 111 bone marrow samples from 52 patients.","authors":"Horatiu Olteanu, Mrinal Patnaik, Matthew J Koster, Jennifer L Herrick, Dong Chen, Rong He, David Viswanatha, Kenneth J Warrington, Ronald S Go, Abhishek A Mangaonkar, Taxiarchis Kourelis, Alexander Hines, Sarah E Gibson, Jess F Peterson, Kaaren K Reichard","doi":"10.1093/ajcp/aqad186","DOIUrl":"10.1093/ajcp/aqad186","url":null,"abstract":"<p><strong>Objectives: </strong>VEXAS syndrome is an adult-onset autoinflammatory disease caused by a somatic pathogenic mutation in the UBA1 (ubiquitin-like modifier activating enzyme 1) gene. Patients present with rheumatologic manifestations and cytopenias and may have an increased predisposition to myelodysplastic syndrome (MDS) and plasma cell neoplasms. Prior studies have reported on the peripheral blood and bone marrow findings in patients with VEXAS syndrome. Due to the protean clinical presentation and lack of specificity of morphologic features (eg, vacuoles in early erythroid and granulocytic precursors), an optimal screening methodology to identify these patients in a timely fashion is desirable.</p><p><strong>Methods: </strong>To further evaluate and describe the salient diagnostic morphologic features in VEXAS syndrome, we carried out a comprehensive study of the largest single-institution cohort to date. Diagnostic and follow-up bone marrow biopsy specimens from 52 male patients with molecularly identified VEXAS syndrome underwent central review.</p><p><strong>Results: </strong>Cytopenias were common in all cases, primarily macrocytic anemia, monocytopenia, and thrombocytopenia. Bone marrow aspirate and biopsy were often hypercellular, with an increased myeloid/erythroid ratio, granulocytic hyperplasia with left shift, erythroid left shift, and megakaryocyte hyperplasia, which exhibited a range of striking morphologic findings. Distinctly vacuolated myeloid and erythroid precursors were seen in more than 95% of cases.</p><p><strong>Conclusions: </strong>Our data reveal potential novel diagnostic features, such as a high incidence of monocytopenia and distinct patterns of atypical megakaryopoiesis, that appear different from dysmegakaryopoiesis typically associated with MDS. In our experience, those findings are suggestive of VEXAS, in the appropriate clinical context.</p>","PeriodicalId":7506,"journal":{"name":"American journal of clinical pathology","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139982080","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信