Pathology最新文献

{"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":"<p><p>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.</p>","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}

{"title":"Bone tumour with CRTC1::TRIM11 gene rearrangement.","authors":"Aline Baltres, Alexandra Meurgey, Florian Bourbotte-Salmon, François Gouin, Mona Amini-Adle, Franck Tirode, Daniel Pissaloux, Arnaud de la Fouchardière","doi":"10.1016/j.pathol.2025.01.009","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.009","url":null,"abstract":"","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":"143993891","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}

{"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":"<p><p>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.</p>","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}

{"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":"<p><p>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.</p>","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}

{"title":"Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.","authors":"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","doi":"10.1016/j.pathol.2025.02.004","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.02.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036719","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}

{"title":"Flow cytometric detection of BCR::ABL1 in T-lymphocytes in chronic myeloid leukaemia.","authors":"Daria Buic, Suraj Lama, Henry Y L Hui, Carly George, Agnes S M Yong, Rishi S Kotecha, Wendy N Erber, Kathy A Fuller","doi":"10.1016/j.pathol.2025.01.005","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.005","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008608","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}

{"title":"Myoepithelial carcinoma ex-pleomorphic adenoma of the parotid gland: a rare case with FGFR1::PLAG1 fusion, and a brief review of the literature.","authors":"Brigitte Papa, Ahmad Aga, Priscillia Siswara, Noel Djitro, Phillip Moore, Pranav Dorwal","doi":"10.1016/j.pathol.2025.01.006","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.006","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985921","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}

{"title":"Primary mesenteric sarcoma with MGA::NUTM1 gene rearrangement: a case report and review on the emerging subset of NUTM1-rearranged neoplasms.","authors":"Noorjehan Omar, Akihiko Yoshida, Hitomi S Okuma, Tony Ng, Faisal Ramli, May Feng Chen, Victor Kwan Min Lee","doi":"10.1016/j.pathol.2025.01.004","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986006","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}

{"title":"Clinicopathological and molecular characteristics of paediatric-type follicular lymphoma: an analysis of 39 cases.","authors":"Yinglan Tuo, Anqi Li, Chunxue Yang, Binshen Ouyang, Yingting Liu, Yimin Li, Xia Shen, Lei Zhang, Haimin Xu, Chaofu Wang, Hongmei Yi","doi":"10.1016/j.pathol.2025.01.003","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.003","url":null,"abstract":"<p><p>Our aim was to investigate the clinicopathological characteristics of paediatric-type follicular lymphoma (PTFL). The clinicopathological data were collected from 39 patients with PTFL diagnosed at the Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, China, from January 2017 to September 2024, including the morphology, immunohistochemical (IHC) analysis, and Ig gene rearrangements detected by polymerase chain reaction (PCR). Fluorescence in situ hybridisation (FISH) was performed to detect breakages in BCL2, BCL6, MYC, and IRF4 genes. In situ hybridisation (ISH) was used to detect Epstein-Barr virus (EBV)-encoded small RNAs (EBERs). Follow-up data were obtained from all patients through telephone interviews and by checking the electronic medical record system. The study cohort comprised 39 PTFL patients, 34 males and five females, with a median age of 15 years (range 7-41 years). The primary clinical presentation was lymph node enlargement in the head and neck regions, without systemic symptoms such as fever, night sweats, or weight loss. All patients were staged as I or II. Of these, 34 patients were followed up, whilst five were lost to follow-up. The follow-up period extended from 3 to 89 months, with no recorded cases of disease progression or mortality. Histologically, the architecture of the lymph nodes was markedly altered by large, irregular follicular nodules, which were either confluent or back-to-back, and contained medium-sized, relatively uniform blastoid cells. Some cases exhibited a mix of cell types characteristic of high-grade classic follicular lymphoma. All cases exhibited prominent 'starry-sky' pattern in neoplastic germinal centres. Mantle zones were often thin or absent. Neoplastic follicles were immunoreactive for CD20, CD79α, BCL6, and CD10, but not for CD3 and CD5. BCL2 was not expressed except for a few atypical cells in Cases 15 and 27 showing weak BCL2 expression. MUM1 was negative, except in Cases 5 and 27, where tumour cells were MUM1 positive. C-MYC expression varied in 24 cases, and the Ki-67 proliferation index was elevated (40-90%). CD21 and CD23 highlighted the follicular dendritic cells, confirming the confinement of tumour cells to the follicles. Immunoglobulin D (IgD) staining revealed attenuated or discontinuous mantle zones. EBV ISH was positive in only one of 37 cases. PCR detected Ig gene rearrangements in 35 of 36 cases. FISH analyses revealed no translocations or rearrangements in BCL2, BCL6, IRF4, or MYC. Collectively, our findings provide a deeper understanding of the clinical, morphological, IHC, and molecular characteristics of PTFL, which portends a favourable prognosis, setting it apart from conventional follicular lymphoma.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079293","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}

{"title":"HER2-low across solid tumours: different incidences and definitions","authors":"Ximena Baez-Navarro ,&nbsp;Floris H. Groenendijk ,&nbsp;Lindsey Oudijk ,&nbsp;Jan von der Thüsen ,&nbsp;Nicola Fusco ,&nbsp;Giuseppe Curigliano ,&nbsp;Carolien H.M. van Deurzen","doi":"10.1016/j.pathol.2025.02.003","DOIUrl":"10.1016/j.pathol.2025.02.003","url":null,"abstract":"<div><div>Antibody-drug conjugates, particularly trastuzumab deruxtecan (T-DXd), have emerged as effective therapies for various solid tumours. Clinical trials show that T-DXd improves survival in both HER2-positive and HER2-low breast cancer patients. Additionally, it improves survival in HER2-positive gastro-oesophageal cancer and elicits objective responses in HER2-low tumours. Responses have also been noted in lung and gynaecological cancers with HER2 expression, although subgroup analyses for HER2-low cases are lacking. This review assesses HER2 protein expression levels and gene amplification across solid tumours where T-DXd shows potential benefits. We focus on the accuracy and limitations of HER2 testing methods, particularly for identifying HER2-low cancer. A semi-systematic approach was employed, searching EMBASE, Medline, Cochrane, and PubMed databases. We calculated median incidences of HER2-positive, HER2-low, and HER2-0 by immunohistochemistry (IHC), and HER2 amplification by <em>in situ</em> hybridisation (ISH). A total of 144 studies were included, covering breast (<em>n</em>=57), gastro-oesophageal (<em>n</em>=33), lung (<em>n</em>=17), gynaecological (<em>n</em>=24), and various other carcinomas (<em>n</em>=13). The median incidences of HER2-low were 52%, 16%, 58%, and 17% in breast, gastro-oesophageal, endometrial, and ovarian cancers, respectively, with unknown incidences in lung and cervical cancers. Factors influencing HER2-low detection include tumour heterogeneity, antibody clones, observer variability, and lack of validated scoring criteria. Given the significant proportion of HER2-low cases, many patients could benefit from T-DXd, but limitations in detection accuracy necessitate further research and standardisation in diagnostic methods and criteria to advance the clinical utility of T-DXd for HER2-low tumours.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 403-414"},"PeriodicalIF":3.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143903808","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}