IF 3.6 3区医学

Pathology Pub Date : 2025-04-09 DOI: 10.1016/j.pathol.2025.02.005

Maher Kurdi, Fadi Toonsi, Alaa Alkhotani, Yazid Maghrabi, Fahad Okal, Maryam Enani, Huda Alghefari, Saleh Baeesa

引用次数: 0

V217F MYD88 mutation in low-grade B-cell lymphomas with plasmacytic differentiation: a diagnostic challenge. 低级别b细胞淋巴瘤伴浆细胞分化的V217F MYD88突变：一个诊断挑战

IF 3.6 3区医学

Pathology Pub Date : 2025-04-07 DOI: 10.1016/j.pathol.2025.02.006

Jesús de Beltrán Machuca Aguado, Rebeca Manso Alonso, Rocío Nieves Salgado, Tamara Castaño Bonilla, Marta León Del Campo, Socorro María Rodríguez Pinilla, Francisco Javier Díaz de la Pinta

引用次数: 0

Are deeper sections and immunohistochemistry useful in detecting micrometastases and isolated tumour cells in colorectal cancer? 深层切片和免疫组织化学对检测结直肠癌的微转移和分离肿瘤细胞有用吗？

IF 3.6 3区医学

Pathology Pub Date : 2025-04-04 DOI: 10.1016/j.pathol.2025.01.011

David W Dodington, Keegan Guidolin, Fayez Quereshy, Runjan Chetty, Stefano Serra, Klaudia M Nowak

{"title":"Are deeper sections and immunohistochemistry useful in detecting micrometastases and isolated tumour cells in colorectal cancer?","authors":"David W Dodington, Keegan Guidolin, Fayez Quereshy, Runjan Chetty, Stefano Serra, Klaudia M Nowak","doi":"10.1016/j.pathol.2025.01.011","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.011","url":null,"abstract":"Identification of lymph node metastases is critical for staging of colorectal cancer. Lymph node metastases are classified based on size as macrometastases, micrometastases, or isolated tumour cells (ITCs). Micrometastases are associated with worse prognosis; however, optimal detection methods have yet to be established. The first objective was to determine if deeper levels and immunohistochemistry would detect micrometastases in patients with metastatic disease but negative lymph nodes. Five patients with pT3N0 colorectal adenocarcinoma who developed metastatic disease were identified. Three deeper haematoxylin and eosin (H&E) levels followed by pan-cytokeratin immunohistochemistry was performed on all lymph nodes. No micrometastases were detected; however, ITCs were seen by immunohistochemistry in three of five patients. Driven by these findings, the second objective was to determine if a single level stained for pan-cytokeratin would identify ITCs and if their presence was associated with an increased risk of disease recurrence. A cohort of eight patients with stage IIA (pT3N0M0) colorectal adenocarcinoma who developed distant metastasis was matched to eight control patients who remained disease-free over a 5-year period, and a single pan-cytokeratin stain was performed on all lymph nodes. ITCs were identified in six of eight patients that developed metastasis and in five of eight control patients (odds ratio=1.80; 95% confidence interval=0.21-15.41). In conclusion, three deeper levels and immunohistochemistry did not increase the yield of micrometastases in pT3N0 colorectal adenocarcinoma. While ITCs were readily identified by immunohistochemistry, their presence was not a significant predictor of distant recurrence. These findings do not support the routine use of deeper levels and immunohistochemistry for lymph node staging.","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Single-nucleotide polymorphism (SNP) microarray as an ancillary tool in the classification of bone tumours. 单核苷酸多态性（SNP）微阵列作为骨肿瘤分类的辅助工具。

IF 3.6 3区医学

Pathology Pub Date : 2025-04-03 DOI: 10.1016/j.pathol.2024.11.017

Narelle Barton, Christopher Joy, Alison L Cheah, Fiona Bonar, Fiona Maclean, James Harraway, A Cristina Vargas

引用次数: 0

BCL11B helps to define T-lineage in lymphomas/leukaemias with a mixed/ambiguous immunophenotype. BCL11B有助于确定混合/模糊免疫表型的淋巴瘤/白血病的t谱系。

IF 3.6 3区医学

Pathology Pub Date : 2025-04-03 DOI: 10.1016/j.pathol.2025.01.010

Shuyu E, Francisco Vega, Mahsa Khanlari, Hong Fang, Jie Xu, Shaoying Li, Shimin Hu, Sa A Wang, Qing Wei, Wei J Wang, L Jeffrey Medeiros, Wei Wang

{"title":"BCL11B helps to define T-lineage in lymphomas/leukaemias with a mixed/ambiguous immunophenotype.","authors":"Shuyu E, Francisco Vega, Mahsa Khanlari, Hong Fang, Jie Xu, Shaoying Li, Shimin Hu, Sa A Wang, Qing Wei, Wei J Wang, L Jeffrey Medeiros, Wei Wang","doi":"10.1016/j.pathol.2025.01.010","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.010","url":null,"abstract":"BCL11B is a pan-T-cell transcription factor that plays a pivotal role in guiding T-cell differentiation and maturation. BCL11B is lineage specific, and its expression is confined to T cells; B, NK and myeloid cells are usually negative. In this study, we aim to explore the value of BCL11B in the diagnosis and differential diagnosis of lymphomas/leukaemias exhibiting an ambiguous immunophenotype or which simultaneously express both T- and B-cell markers. The study cohort included 23 cases with a mixed/ambiguous immunophenotype, including five cases of T-lymphoblastic leukaemia (T-ALL) with B-marker expression, 10 mature T-cell lymphomas either with B-marker expression or lacking the expression of most T markers, three diffuse large B-cell lymphomas with T-marker expression, one classic Hodgkin lymphoma positive for T-cell antigens, and four plasma cell neoplasms expressing T markers. Immunohistochemistry (IHC) analysis for BCL11B was performed using formalin-fixed, paraffin-embedded tissue sections. All five cases of T-ALL were positive for BCL11B, confirming T-lineage. Amongst 10 cases of mature T-cell lymphoma, eight were BCL11 positive, and the remaining two BCL11B-negative cases were anaplastic large-cell lymphoma (ALCL). All cases of B-cell lymphoma, classic Hodgkin lymphoma, and plasma cell neoplasm were negative for BCL11B, consistent with their non-T-lineage. In conclusion, BCL11B IHC is valuable in designating T-lineage in neoplasms with a mixed/ambiguous immunophenotype. As observed in this study, BCL11B expression is highly specific for T-cell lineage. Of note, the absence of BCL11B does not completely exclude a diagnosis of T-cell lymphoma or leukaemia, especially in cases with a potential diagnosis of ALCL.","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Bone tumour with CRTC1::TRIM11 gene rearrangement. 骨肿瘤合并CRTC1::TRIM11基因重排。

IF 3.6 3区医学

Pathology Pub Date : 2025-04-03 DOI: 10.1016/j.pathol.2025.01.009

Aline Baltres, Alexandra Meurgey, Florian Bourbotte-Salmon, François Gouin, Mona Amini-Adle, Franck Tirode, Daniel Pissaloux, Arnaud de la Fouchardière

引用次数: 0

Acute lymphoblastic leukaemia with T- and B-lineage defining markers. 急性淋巴细胞白血病与T和b谱系定义标记。

IF 3.6 3区医学

Pathology Pub Date : 2025-04-02 DOI: 10.1016/j.pathol.2025.01.007

Shuyu E, Fatima Z Jelloul, Karen A Nahmod, Nicholas Short, Vasiliki Leventaki, Fuli Jia, Jie Xu, Sanam Loghavi, Wei Wang, L Elias Jabbour, Guilin Tang, L Jeffrey Medeiros, Sa A Wang

{"title":"Acute lymphoblastic leukaemia with T- and B-lineage defining markers.","authors":"Shuyu E, Fatima Z Jelloul, Karen A Nahmod, Nicholas Short, Vasiliki Leventaki, Fuli Jia, Jie Xu, Sanam Loghavi, Wei Wang, L Elias Jabbour, Guilin Tang, L Jeffrey Medeiros, Sa A Wang","doi":"10.1016/j.pathol.2025.01.007","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.007","url":null,"abstract":"In acute lymphoblastic leukaemia (ALL), cytoplasmic CD3 (cCD3) is a defining marker for T-lineage, and CD19 plus additional B-cell marker(s) for B-lineage. We identified 23 ALL cases in which the lymphoblasts expressed both cCD3 and CD19, making lineage assignment challenging. These cases represented approximately 10% of cCD3+ ALL and expressed a median of two additional B-cell markers other than CD19, including CD79a (76%), CD22 (22%), PAX5 (57%) and CD10 (44%). Two cases were mixed for T/B-lineage ALL, both positive for BCR::ABL1 rearrangement. In the remaining 21 cases, IgH and/or IgK/L rearrangement were detected in 1 of 19 cases and TRG/TRB in 13 of 21 (62%) cases. Other T-ALL characteristic genetic abnormalities included NOTCH1 mutations (7/21, 33%), PHF6 (6/21, 29%), JAK3 (4/21, 19%), PICALM::MLLT10, TLX3::BCL11B, TRB::HOXA13, SPTAN1::NUP214 and deletion of CDKN2A/CDKN2B. In the 16 cases that demonstrated a T-ALL genetic profile, CD22 (2/16, 13%) was found to be a more specific additional B-lineage marker than CD79a (11/15, 73%), PAX5 (8/14, 57%) or CD10 (7/16, 44%). Our data suggest that mixed T/B-ALL is extremely rare, with most cases associated with BCR::ABL1 and blast crisis of myeloproliferative neoplasms. The majority of cases represent early T-precursor lymphoblastic leukaemia expressing aberrant B-cell markers. We also showed persistent CD19 expression in relapsed/residual disease (16/17, 94%), suggesting its potential role as a therapeutic target and as a marker for detection of residual/relapse disease in these ALL cases.","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Continuous reference intervals for total serum immunoglobulin E in neonates and children. 新生儿和儿童血清总免疫球蛋白E的连续参考区间。

IF 3.6 3区医学

Pathology Pub Date : 2025-04-01 DOI: 10.1016/j.pathol.2025.01.008

Tengyi Cai, Sharon Choo, Andrew Harrison, Kate Coverdale, Stephen Hearps, Vasiliki Karlaftis, Paul Monagle, Vera Ignjatovic, Kuang-Chih Hsiao

{"title":"Continuous reference intervals for total serum immunoglobulin E in neonates and children.","authors":"Tengyi Cai, Sharon Choo, Andrew Harrison, Kate Coverdale, Stephen Hearps, Vasiliki Karlaftis, Paul Monagle, Vera Ignjatovic, Kuang-Chih Hsiao","doi":"10.1016/j.pathol.2025.01.008","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.008","url":null,"abstract":"Immunoglobulin E (IgE) is a group of antibodies involved with allergic sensitisation. Levels of total IgE change with age and tend to be higher in individuals with allergic diseases than in those without. To improve the clinical utility of total IgE, this study aimed to establish continuous paediatric reference intervals (RIs) for healthy individuals. The study participants consisted of healthy term neonates and children aged 30 days to 18 years. Venous blood samples were collected, and total serum IgE concentrations were measured by performing a fluoroenzyme immunoassay. Fractional polynomial regression modelling and quantile regression were applied in the statistical analysis to generate continuous RIs. A total of 441 samples were analysed for total serum IgE, including 12 neonate samples and 429 paediatric samples from birth to 18 years of age, with males representing 51.5% (n=227) of the samples. For individuals without allergic conditions (n=305), the RI formulae for 2.5th percentile and 97.5th percentile were 2.00 and 37.29+101.95∗(age/10), respectively. For individuals with allergic conditions (n=136), the RI formulae for 2.5th percentile and 97.5th percentile were 1.50+0.30∗(age/10) and 1751.73+14.82∗(age/10), respectively. This study established continuous paediatric RIs for total serum IgE in otherwise healthy term neonates and children with and without allergic conditions. The continuous RIs generated from this study showed the age-based dynamic changes and allergy-specific differences for total serum IgE.","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy. 囊性纤维化、脆性X综合征和脊髓性肌萎缩症生殖基因携带者筛查指南。

IF 3.6 3区医学

Pathology Pub Date : 2025-03-26 DOI: 10.1016/j.pathol.2025.02.004

Edwin Kirk, Linda Mundy, Eric Lee, Ben Lundie, Nigel Laing, Alison D Archibald, Ainsley J Newson, Kym Mina, Kevin Carpenter, Kate Neas, Richard King, Monica Ferrie, Sebastian Lunke, Tiffany Boughtwood, Martin B Delatycki, Jon Emery, Helen Mountain, Lisa Hui, Lisa Dive, Michelle A Farrar, John Massie

引用次数: 0

Flow cytometric detection of BCR::ABL1 in T-lymphocytes in chronic myeloid leukaemia. 慢性髓系白血病患者t淋巴细胞BCR::ABL1的流式细胞术检测。

IF 3.6 3区医学

Pathology Pub Date : 2025-03-26 DOI: 10.1016/j.pathol.2025.01.005

Daria Buic, Suraj Lama, Henry Y L Hui, Carly George, Agnes S M Yong, Rishi S Kotecha, Wendy N Erber, Kathy A Fuller

引用次数: 0

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