Pathology最新文献

{"title":"The hidden Australian skin cancer epidemic, high-risk cutaneous squamous cell carcinoma: a narrative review","authors":"Andrew Dettrick ,&nbsp;Neil Foden ,&nbsp;David Hogan ,&nbsp;Mary Azer ,&nbsp;John Blazak ,&nbsp;Daisy Atwell ,&nbsp;Nicole Buddle ,&nbsp;Myo Min ,&nbsp;Ryan Livingston ,&nbsp;Leith Banney ,&nbsp;Rebecca Donkin","doi":"10.1016/j.pathol.2024.05.002","DOIUrl":"10.1016/j.pathol.2024.05.002","url":null,"abstract":"<div><p>Deaths from non-melanoma skin cancers (NMSCs) have almost doubled in Australia in recent years. Cutaneous squamous cell carcinoma (cSCC) constitutes approximately 20% of NMSCs, but is responsible for most of the deaths. Most skin cancers are easy to diagnose and treat and therefore cSCC are often trivialised; however, there is a high-risk subgroup of cSCC (HRcSCC) that is associated with a high risk of metastasis and death. The definition of early HRcSCC and our ability to identify them is evolving. Many significant prognostic factors have been identified, but a universally accepted prognostic index does not exist. Guidelines for workup, treatment, and follow-up leave many important decisions open to broad interpretation by the treating physician or multidisciplinary team. Some of the treatments used for metastatic cSCC are not supported by robust evidence and the prognosis of metastatic cSCC is guarded. In this review, we highlight the rapid rise in NMSC deaths and discuss some of the deficiencies in our knowledge of how to define, diagnose, stage, and manage HRcSCC.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 5","pages":"Pages 619-632"},"PeriodicalIF":3.6,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001338/pdfft?md5=7918139e5df902886fd5694e80438c23&pid=1-s2.0-S0031302524001338-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141319547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metastatic high-grade corded and hyalinised endometrioid carcinoma: a challenging cytological diagnosis","authors":"","doi":"10.1016/j.pathol.2024.03.007","DOIUrl":"10.1016/j.pathol.2024.03.007","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 921-925"},"PeriodicalIF":3.6,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141196561","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":"Spitz naevus with syringomatous eccrine ductal hyperplasia and ROS1 fusion","authors":"","doi":"10.1016/j.pathol.2024.03.006","DOIUrl":"10.1016/j.pathol.2024.03.006","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 918-921"},"PeriodicalIF":3.6,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141196406","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":"Tumour necrosis is a valuable histopathological prognostic parameter in melanomas of the vulva and vagina","authors":"","doi":"10.1016/j.pathol.2024.03.008","DOIUrl":"10.1016/j.pathol.2024.03.008","url":null,"abstract":"<div><p>Vulvar and vaginal melanomas<span> (VVMs) are rare and aggressive malignancies with limited prognostic models available and there is no standard reporting protocol.</span></p><p><span>VVMs were selected from six tertiary Canadian hospitals from 2000–2021, resected from patients aged ≥18 years, with 6 months or longer follow-up data, and confirmation of melanocytic differentiation by at least two immunohistochemical markers. Cases were reviewed by pathologists to identify histological biomarkers. Survival outcomes were tested with Kaplan–Meier log-rank, univariate Cox, and multivariate </span>Cox regression.</p><p><span>There were 79 VVMs with median follow-up at 26 months. Univariate analysis<span><span> revealed that tumour necrosis<span><span>, tumour ulceration, positive lymph nodes, and </span>metastasis at diagnosis were significantly associated with disease-specific mortality, progression, and metastasis. </span></span>Multivariate analysis<span> identified tumour necrosis as an independent prognostic factor for disease-specific mortality (HR 4.803, 95% CI 1.954–11.803, </span></span></span><em>p</em>&lt;0.001), progression (HR 2.676, 95% CI 1.403–5.102, <em>p</em>=0.003), and time-to-metastasis for non-metastatic patients at diagnosis (HR 3.761, 95%CI 1.678–8.431, <em>p</em>=0.001). Kaplan–Meier survival analyses demonstrated that tumour necrosis was a poor prognostic factor for disease-specific, progression-free, and metastasis-free survival (<em>p</em>&lt;0.001 for all comparisons). Vaginal melanomas displayed decreased survival compared to vulvar or clitoral melanomas.</p><p>This study identifies tumour necrosis as an independent prognostic factor for VVMs. Vaginal melanomas specifically showed worse survival outcomes compared to vulvar or clitoral melanomas, consistent with previously reported findings in the literature, emphasising the importance of differentiating between these primary tumour epicentres for prognostication and treatment planning in the care of genital melanoma patients.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 854-864"},"PeriodicalIF":3.6,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141437300","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":"Chromosomal assessment of haematological malignancies: Flow-FISHing for genetic abnormalities","authors":"Kathy A. Fuller","doi":"10.1016/j.pathol.2024.05.001","DOIUrl":"10.1016/j.pathol.2024.05.001","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 5","pages":"Pages 617-618"},"PeriodicalIF":3.6,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001302/pdfft?md5=4de2dcd8d1907b5d1b0803d178f1c0f7&pid=1-s2.0-S0031302524001302-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141134838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune checkpoint markers and tumour mutation burden in Wilms tumour: a study of 59 cases","authors":"","doi":"10.1016/j.pathol.2024.03.005","DOIUrl":"10.1016/j.pathol.2024.03.005","url":null,"abstract":"<div><p><span><span><span>Wilms tumour (WT) is the most common </span>renal tumour<span><span> in children, and studies of immune checkpoint inhibitors (ICIs) treatment and markers are limited in number. In this study we investigated the ICIs' related immune landscape by examining the expression of PD-L1, PD-1, </span>CD8<span><span> and DNA mismatch repair (MMR) proteins by </span>immunohistochemistry (IHC), </span></span></span>tumour mutation burden<span> (TMB), and correlations with histology and clinical outcome. Positive PD-L1 (SP263) expression was defined as modified combined positive score (CPS) ≥1. A total of 59 WTs (from 2000 to 2017), including eight (14.0%) with anaplasia<span>, from 46 patients were analysed (45 primary and 14 metastatic). Thirteen WTs (13/59, 22%) were positive for PD-L1 (8 primary, 5 metastatic; CPS 1.11–3.42). Positive PD-L1 expression was associated with diffuse anaplasia (</span></span></span><em>p</em>&lt;0.05) and significantly shorter progression-free survival (<em>p</em>&lt;0.05) among WTs with favourable histology (<em>n</em>=39). CD8+ lymphocytes were present in all analysed WTs. A subset of CD8+ cells co-expressed PD-1, which was associated with favourable histology and treatment. MMR IHC stains identified two (2/18, 11%) WTs with isolated PMS2 loss. All six WTs analysed for TMB showed low mutation burden. We found CD8+ lymphocytes in all analysed WTs and identified a fraction of WT (17.8% of primary and 35.8% of metastatic) with positive PD-L1 CPS, suggesting potential response to ICIs in some patients.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 814-825"},"PeriodicalIF":3.6,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141132203","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":"Identifying organisms directly from BacT/Alert FAN plus blood culture bottles using Vitek MS in a state-wide laboratory network","authors":"","doi":"10.1016/j.pathol.2024.03.004","DOIUrl":"10.1016/j.pathol.2024.03.004","url":null,"abstract":"<div><p>Identifying organisms directly from positive blood culture bottles using matrix-assisted laser desorption-ionisation time-of-flight mass spectrometry (MALDI-TOF MS) has many advantages to patients, clinical services, and laboratories. However, few published methods have demonstrated good performance using the current BioMérieux culture bottles and MALDI-TOF system: BacT/Alert FAN plus and Vitek MS. The effect of transporting bottles on test performance has not been assessed for any direct-from-bottle MS method. In this study, 802 positive blood culture bottles were analysed including 234 requiring inter-laboratory transport, using a method involving protein extraction with formic acid and acetonitrile. Correct identification rates were high for <em>Staphylococcus aureus</em> (58/58 of new diagnostic samples), <em>Enterococcus faecalis</em> (27/27), Gram-negative bacilli (160/176, 90.1%), and coagulase-negative <em>Staphylococcus</em> species (108/132, 81.8%). Three false identifications were made, none with clinical significance. For Gram-positive cocci in pairs or chains, more correct identifications were made from bottles analysed immediately compared to transported bottles (67% vs 44%, <em>p</em>=0.016), and longer transport time was associated with slightly lower probability of correct identification (OR 0.984 per additional hour, <em>p</em>=0.040). Transportation was not associated with a difference for other organism types. This technique is a vastly more cost-effective alternative to molecular techniques for rapid identification of bacteraemia isolates, and performance is minimally affected by inter-laboratory transport of bottles at ambient temperature.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 897-903"},"PeriodicalIF":3.6,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141142814","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":"Multicolour and lineage-specific interphase chromosome Flow-FISH: method development and clinical validation","authors":"Huey-En Tzeng ,&nbsp;Yi-Wei Lee ,&nbsp;Chien-Ting Lin ,&nbsp;Shih-Sung Chuang ,&nbsp;Chi-Cheng Li ,&nbsp;Wen-Hui Chuang ,&nbsp;Cheng-An Hsu ,&nbsp;Yi-Hua Wang ,&nbsp;Hwei-Fang Tien ,&nbsp;Shang-Ju Wu","doi":"10.1016/j.pathol.2024.04.001","DOIUrl":"10.1016/j.pathol.2024.04.001","url":null,"abstract":"<div><p>Flow cytometry can be applied in the detection of fluorescence <em>in situ</em> hybridisation (FISH) signals to efficiently analyse chromosomal aberrations. However, such interphase chromosome (IC) Flow-FISH protocols are currently limited to detecting a single colour. Furthermore, combining IC Flow-FISH with conventional multicolour flow cytometry is difficult because the DNA-denaturation step in FISH assay also disrupts cellular integrity and protein structures, precluding subsequent antigen-antibody binding and hindering concurrent labeling of surface antigens and FISH signals.</p><p>We developed a working protocol for concurrent multicolour flow cytometry detection of nuclear IC FISH signals and cell surface markers. The protocol was validated by assaying sex chromosome content of blood cells, which was indicative of chimerism status in patients who had received sex-mismatched allogeneic haematopoietic stem cell transplants (allo-HSCT). The method was also adapted to detect trisomy 12 in chronic lymphocytic leukaemia (CLL) subjects.</p><p>We first demonstrated the feasibility of this protocol in detecting multiple colours and concurrent nuclear and surface signals with high agreement. In clinical validation experiments, chimerism status was identified in clinical samples (<em>n</em>=56) using the optimised IC Flow-FISH method; the results tightly corresponded to those of conventional slide-based FISH (R²=0.9649 for XX cells and 0.9786 for XY cells). In samples from patients who received sex-mismatched allo-HSCT, individual chimeric statuses in different lineages could be clearly distinguished with high flexibility in gating strategies. Furthermore, in CLL samples with trisomy 12, this method could demonstrate that enriched trisomy 12 FISH signal was present in B cells rather than in T cells. Finally, by performing combined labelling of chromosome 12, X chromosome, and surface markers, we could detect rare residual recipient CLL cells with trisomy 12 after allo-HSCT.</p><p>This adaptable protocol for multicolour and lineage-specific IC Flow-FISH advances the technique to allow for its potential application in various clinical contexts where conventional FISH assays are currently being utilised.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 5","pages":"Pages 671-680"},"PeriodicalIF":3.6,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001296/pdfft?md5=a3a9e5d5a4e38297b4d74b295a8619f8&pid=1-s2.0-S0031302524001296-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141132997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successive next-generation sequencing strategy for optimal fusion gene detection in non-small-cell lung cancer in clinical practice","authors":"Simon Garinet ,&nbsp;Audrey Lupo ,&nbsp;Thomas Denize ,&nbsp;Romain Loyaux ,&nbsp;Sarah Timsit ,&nbsp;Benoit Gazeau ,&nbsp;Elizabeth Fabre ,&nbsp;Zineb Maaradji ,&nbsp;Laure Gibault ,&nbsp;Etienne Giroux-Leprieur ,&nbsp;Boris Duchemann ,&nbsp;Isabelle Monnet ,&nbsp;Stéphane Jouveshomme ,&nbsp;Mihaela Aldea ,&nbsp;Benjamin Besse ,&nbsp;Françoise Le Pimpec-Barthes ,&nbsp;Karen Leroy ,&nbsp;Marie Wislez ,&nbsp;Hélène Blons","doi":"10.1016/j.pathol.2024.02.014","DOIUrl":"10.1016/j.pathol.2024.02.014","url":null,"abstract":"<div><p>Metastatic non-small-cell lung cancer (NSCLC) displays various molecular alterations in the RAS-MAPK pathway. In particular, NSCLCs show high rates of targetable gene fusion in <em>ALK</em>, <em>RET</em>, <em>ROS1</em>, <em>NRG1</em> and <em>NTRK,</em> or <em>MET</em> exon 14 skipping. Rapid and accurate detection of gene fusion in <em>EGFR</em>/<em>KRAS</em>/<em>BRAF</em> mutations is important for treatment selection especially for first-line indications. RNA-based next-generation sequencing (NGS) panels appear to be the most appropriate as all targets are multiplexed in a single run. While comprehensive NGS panels remain costly for daily practice, optimal sequencing strategies using targeted DNA/RNA panel approaches need to be validated. Here, we describe our lung cancer screening strategy using DNA and RNA targeted approaches in a real-life cohort of 589 NSCLC patients assessed for molecular testing. Gene fusions were analysed in 174 patients negative for oncogene driver mutations or ALK immunohistochemistry in a two-step strategy. Targetable alterations were identified in 28% of contributive samples. Non-smokers had a 63.7% probability to have a targetable alteration as compared to 21.5% for smokers. Overall survival was significantly higher (<em>p</em>=0.03) for patients who received a molecularly matched therapy. Our study shows the feasibility in routine testing of NSCLC DNA/RNA molecular screening for all samples in a cost- and time-controlled manner. The significant high fusion detection rate in patients with wild-type RAS-MAPK tumours highlights the importance of amending testing strategies in NSCLC.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 5","pages":"Pages 702-709"},"PeriodicalIF":3.6,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001247/pdfft?md5=1488132ea31df5485d4aa71f71053048&pid=1-s2.0-S0031302524001247-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141136961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neutrophil-to-lymphocyte ratio in colorectal tissue affects prognosis in patients with colorectal cancer","authors":"Feng Xun ,&nbsp;Wenliang Jiang ,&nbsp;Min Sha ,&nbsp;Wenya Wang ,&nbsp;Yong Xia ,&nbsp;Haoran Hu ,&nbsp;Rongquan Liu ,&nbsp;Hong Yu ,&nbsp;Honggang Wang","doi":"10.1016/j.pathol.2024.03.003","DOIUrl":"10.1016/j.pathol.2024.03.003","url":null,"abstract":"<div><p>The objective of this investigation was to analyse the correlation between the neutrophil-to-lymphocyte ratio (NLR) status in the immune microenvironment (IME) and the prognostic outcomes of patients who have undergone radical surgery for colorectal cancer (CRC).</p><p>In light of the continued prevalence of CRC in China, this study utilised Kaplan–Meier and Cox regression analyses to assess the prognostic relevance of NLR status in IME among patients with CRC. Furthermore, cellular experiments, such as cell scratching, were conducted to elucidate the underlying mechanisms of NLR's impact on CRC.</p><p>The NLR status in IME has been found to have a significant impact on the prognosis of patients with CRC. Patients who exhibit elevated intratumoural and extratumoural NLR are associated with a poor prognosis. Experimental evidence indicates that tumour-associated neutrophil (TAN) augments the migratory, invasive, and proliferative potential of HT-29, HCT-116 and LOVO colorectal cancer cells, while concurrently reducing their sensitivity to oxaliplatin. Conversely, lymphocytes have demonstrated cytotoxic effects on HT-29 cells.</p><p>The NLR status in IME may serve as a prognostic biomarker for resectable CRC.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 5","pages":"Pages 643-652"},"PeriodicalIF":3.6,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141058071","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}