Pathology最新文献

{"title":"Are deeper sections and immunohistochemistry useful in detecting micrometastases and isolated tumour cells in colorectal cancer?","authors":"David W. Dodington ,&nbsp;Keegan Guidolin ,&nbsp;Fayez Quereshy ,&nbsp;Runjan Chetty ,&nbsp;Stefano Serra ,&nbsp;Klaudia M. Nowak","doi":"10.1016/j.pathol.2025.01.011","DOIUrl":"10.1016/j.pathol.2025.01.011","url":null,"abstract":"<div><div><span><span>Identification of lymph node metastases is critical for staging of </span>colorectal cancer<span><span>. 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 </span>immunohistochemistry<span> would detect micrometastases<span> in patients with metastatic disease but negative lymph nodes. Five patients with pT3N0 </span></span></span></span>colorectal adenocarcinoma<span><span> who developed metastatic disease were identified. Three deeper haematoxylin and </span>eosin<span><span> (H&amp;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 </span>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.</span></span></div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 6","pages":"Pages 696-700"},"PeriodicalIF":3.0,"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}

{"title":"Single-nucleotide polymorphism (SNP) microarray as an ancillary tool in the classification of bone tumours","authors":"Narelle Barton ,&nbsp;Christopher Joy ,&nbsp;Alison L. Cheah ,&nbsp;Fiona Bonar ,&nbsp;Fiona Maclean ,&nbsp;James Harraway ,&nbsp;A. Cristina Vargas","doi":"10.1016/j.pathol.2024.11.017","DOIUrl":"10.1016/j.pathol.2024.11.017","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 5","pages":"Pages 662-665"},"PeriodicalIF":3.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037678","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":"BCL11B helps to define T-lineage in lymphomas/leukaemias with a mixed/ambiguous immunophenotype","authors":"Shuyu E ,&nbsp;Francisco Vega ,&nbsp;Mahsa Khanlari ,&nbsp;Hong Fang ,&nbsp;Jie Xu ,&nbsp;Shaoying Li ,&nbsp;Shimin Hu ,&nbsp;Sa A. Wang ,&nbsp;Qing Wei ,&nbsp;Wei J. Wang ,&nbsp;L. Jeffrey Medeiros ,&nbsp;Wei Wang","doi":"10.1016/j.pathol.2025.01.010","DOIUrl":"10.1016/j.pathol.2025.01.010","url":null,"abstract":"<div><div><span>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 </span>immunophenotype<span><span><span> 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 </span>classic Hodgkin lymphoma positive for T-cell antigens, and four </span>plasma cell neoplasms<span> 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.</span></span></div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 6","pages":"Pages 746-752"},"PeriodicalIF":3.0,"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 ,&nbsp;Alexandra Meurgey ,&nbsp;Florian Bourbotte-Salmon ,&nbsp;François Gouin ,&nbsp;Mona Amini-Adle ,&nbsp;Franck Tirode ,&nbsp;Daniel Pissaloux ,&nbsp;Arnaud de la Fouchardière","doi":"10.1016/j.pathol.2025.01.009","DOIUrl":"10.1016/j.pathol.2025.01.009","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 5","pages":"Pages 665-667"},"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 ,&nbsp;Fatima Z. Jelloul ,&nbsp;Karen A. Nahmod ,&nbsp;Nicholas Short ,&nbsp;Vasiliki Leventaki ,&nbsp;Fuli Jia ,&nbsp;Jie Xu ,&nbsp;Sanam Loghavi ,&nbsp;Wei Wang ,&nbsp;L. Elias Jabbour ,&nbsp;Guilin Tang ,&nbsp;L. Jeffrey Medeiros ,&nbsp;Sa A. Wang","doi":"10.1016/j.pathol.2025.01.007","DOIUrl":"10.1016/j.pathol.2025.01.007","url":null,"abstract":"<div><div><span><span>In acute lymphoblastic leukaemia<span><span> (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 </span>lymphoblasts<span> 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%), </span></span></span>PAX5 (57%) and CD10 (44%). Two cases were mixed for T/B-lineage ALL, both positive for </span><span><span>BCR</span><em>::ABL1</em></span> rearrangement. In the remaining 21 cases, <em>IgH</em> and/or <em>IgK/L</em> rearrangement were detected in 1 of 19 cases and <em>TRG/TRB</em><span> in 13 of 21 (62%) cases. Other T-ALL characteristic genetic abnormalities included </span><em>NOTCH1</em> mutations (7/21, 33%), <span><em>PHF6</em></span> (6/21, 29%), <em>JAK3</em> (4/21, 19%), <span><em>PICALM</em><em>::MLLT10, TLX3::BCL11B</em></span>, <em>TRB::HOXA13</em>, <span><em>SPTAN1</em><em>::NUP214</em></span> and deletion of <em>CDKN2A/CDKN2B</em>. 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 <em>BCR::ABL1</em><span><span> and blast crisis of </span>myeloproliferative neoplasms<span>. 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.</span></span></div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 6","pages":"Pages 739-745"},"PeriodicalIF":3.0,"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 ,&nbsp;Sharon Choo ,&nbsp;Andrew Harrison ,&nbsp;Kate Coverdale ,&nbsp;Stephen Hearps ,&nbsp;Vasiliki Karlaftis ,&nbsp;Paul Monagle ,&nbsp;Vera Ignjatovic ,&nbsp;Kuang-Chih Hsiao","doi":"10.1016/j.pathol.2025.01.008","DOIUrl":"10.1016/j.pathol.2025.01.008","url":null,"abstract":"<div><div>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% (<em>n</em>=227) of the samples. For individuals without allergic conditions (<em>n</em>=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 (<em>n</em>=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.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 5","pages":"Pages 621-624"},"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 ,&nbsp;Linda Mundy ,&nbsp;Eric Lee ,&nbsp;Ben Lundie ,&nbsp;Nigel Laing ,&nbsp;Alison D. Archibald ,&nbsp;Ainsley J. Newson ,&nbsp;Kym Mina ,&nbsp;Kevin Carpenter ,&nbsp;Kate Neas ,&nbsp;Richard King ,&nbsp;Monica Ferrie ,&nbsp;Sebastian Lunke ,&nbsp;Tiffany Boughtwood ,&nbsp;Martin B. Delatycki ,&nbsp;Jon Emery ,&nbsp;Helen Mountain ,&nbsp;Lisa Hui ,&nbsp;Lisa Dive ,&nbsp;Michelle A. Farrar ,&nbsp;John Massie","doi":"10.1016/j.pathol.2025.02.004","DOIUrl":"10.1016/j.pathol.2025.02.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 5","pages":"Pages 539-545"},"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 ,&nbsp;Suraj Lama ,&nbsp;Henry Y.L. Hui ,&nbsp;Carly George ,&nbsp;Agnes S.M. Yong ,&nbsp;Rishi S. Kotecha ,&nbsp;Wendy N. Erber ,&nbsp;Kathy A. Fuller","doi":"10.1016/j.pathol.2025.01.005","DOIUrl":"10.1016/j.pathol.2025.01.005","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 5","pages":"Pages 652-654"},"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 ,&nbsp;Ahmad Aga ,&nbsp;Priscillia Siswara ,&nbsp;Noel Djitro ,&nbsp;Phillip Moore ,&nbsp;Pranav Dorwal","doi":"10.1016/j.pathol.2025.01.006","DOIUrl":"10.1016/j.pathol.2025.01.006","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 5","pages":"Pages 673-676"},"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 ,&nbsp;Akihiko Yoshida ,&nbsp;Hitomi S. Okuma ,&nbsp;Tony Ng ,&nbsp;Faisal Ramli ,&nbsp;May Feng Chen ,&nbsp;Victor Kwan Min Lee","doi":"10.1016/j.pathol.2025.01.004","DOIUrl":"10.1016/j.pathol.2025.01.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 5","pages":"Pages 667-673"},"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}