Pathology最新文献

{"title":"Colorectal endometriosis – a challenging, often overlooked cause of colorectal pathology: a clinicopathological review of 114 cases","authors":"","doi":"10.1016/j.pathol.2024.04.006","DOIUrl":"10.1016/j.pathol.2024.04.006","url":null,"abstract":"<div><p>The colon is the most common site for endometriosis outside the genital tract. It has a varied presentation and can mimic numerous other conditions, both clinically and pathologically. We investigated the clinicopathological features of a series of colorectal endometriosis with a particular emphasis on the features seen in cases with colonic mucosal involvement. A total of 114 consecutive cases of colorectal endometriosis were reviewed. Forty-eight percent did not have a prior diagnosis of endometriosis and in 34 patients (30%) the endometriosis was determined as the cause for the presentation. Mucosal involvement was present in 31 specimens. Features of chronic colitis were seen in the adjacent mucosa in 90% of cases whilst there were glandular changes mimicking adenocarcinoma in two cases (1.8%). Fifty percent of cases with mucosal involvement also showed glands with a hybrid intestinal-endometrial phenotype by morphology and/or by immunohistochemistry. Endometriosis is an important mimic of other conditions.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 795-803"},"PeriodicalIF":3.6,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001454/pdfft?md5=6b7fa3644860f383786f27ff702b28b9&pid=1-s2.0-S0031302524001454-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141505323","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":"A novel molecular assay conducted on the BD Max system to facilitate reflex testing for vanA and vanB in clinical isolates of enterococci","authors":"","doi":"10.1016/j.pathol.2024.04.005","DOIUrl":"10.1016/j.pathol.2024.04.005","url":null,"abstract":"<div><p>Infections caused by vancomycin-resistant enterococci (VRE) are common. Real-time PCR assays targeting <em>vanA</em> and <em>vanB</em> facilitate screening of patients in healthcare settings to limit the risk of dissemination, especially amongst those at high-risk of infection or with limited treatment options. Such assays are commonly performed as reflex testing procedures where they augment phenotypic techniques and shorten turnaround time to benefit timely clinical management. ‘Random access’ and ‘sample-to-result’ real-time PCR platforms are suited for this application as they are of low complexity and less technically demanding. Modelled on these attributes, we configured a real-time PCR assay (VRE BD) for detection of <em>vanA</em>/<em>B</em> in clinical isolates of enterococci, adapted for the BD Max System (Becton Dickinson). We applied an unconventional approach by testing suspensions of microorganisms in water to circumvent the traditional pre-analytical genomic extraction process. Our objective of this study was to assess the performance of this assay for detection of VRE in cultures by validating against a traditional real-time PCR assay based on the LightCycler 2.0 platform (Roche, VRE RO). A high level of analytical sensitivity and specificity (≥99.0%) for both genes was obtained when testing suspensions derived from blood agar. Results for suspensions obtained from chromID VRE (Edwards Group) showed a similar level of performance for <em>vanA</em> detection (100%), but not for the <em>vanB</em> target (≥90.9%) where a lesser number of isolates were available for testing. However, our results for VRE detection in isolates from these media were repeatable and reproducible, and equated to positive and negative predictive values of ≥95.2% and ≥97.8%, respectively. Furthermore, the VRE BD assay was also able to accurately detect VRE in clinical and spiked BacT/ALERT (bioMérieux) blood cultures. Thus, the technical simplicity, short turnaround time and robustness of this high performing assay for VRE is suitable for reflex testing. In addition, the format developed for the BD Max platform has potential application for reflex testing other molecular targets of clinical importance.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 889-896"},"PeriodicalIF":3.6,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001442/pdfft?md5=675f48ecf4e58545299034a67d78969a&pid=1-s2.0-S0031302524001442-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141505324","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":"Intraoperative frozen section evaluation of ovarian sex cord-stromal tumours and their mimics: a study of 121 cases with emphasis on potential diagnostic pitfalls","authors":"","doi":"10.1016/j.pathol.2024.04.007","DOIUrl":"10.1016/j.pathol.2024.04.007","url":null,"abstract":"<div><p>Ovarian sex cord-stromal tumours (SCSTs) present diagnostic difficulties during frozen section (FS) consultations due to their diverse morphology. This study aimed to evaluate the accuracy of FS evaluation of SCSTs in our institution, as well as to examine the reasons leading to incorrect FS diagnosis. Cases mimicking SCSTs and diagnosed as such during FS were also highlighted.</p><p><span><span>We analysed 121 ovarian SCST cases and their mimics which underwent FS consultations over a 10-year period, to evaluate FS accuracy, reasons for deferrals and discrepancies. FS diagnoses were concordant, deferred and discrepant compared to the final diagnosis in 50 (41.3%), 39 (32.2%) and 32 (26.5%) cases, respectively. Major discrepancies (9/121, 7.4%) were mostly related to the diagnosis of adult granulosa cell tumour (AGCT). A fibromatous AGCT was misinterpreted as </span>fibroma on FS, while a cystic AGCT was called a benign cyst. Conversely, a mesonephric-like adenocarcinoma, a sertoliform </span>endometrioid carcinoma<span> and a thecoma<span><span> were misinterpreted as AGCT on FS. Another discrepant case was a Krukenberg tumour<span> with prominent fibromatous stroma in which malignant </span></span>signet ring cells<span> were overlooked and misinterpreted as fibroma. Minor discrepancies were primarily associated with fibroma (21/23, 91.3%), wherein minor but potentially impactful details such as cellular fibroma and mitotically active cellular fibroma were missed due to sampling issues and misinterpretation as leiomyoma. FS evaluation for ovarian SCSTs demonstrated an overall accuracy of 78.5%, 81.0% and 81.8% for benign, uncertain/low malignant potential and malignant categories, respectively. There was no FS-related adverse clinical impact in all cases with available follow-up information (120/121 cases).</span></span></span></p><p>Intraoperative FS evaluation of ovarian SCSTs is challenging. A small number of cases were misinterpreted, with AGCTs being the primary group where errors occur. Awareness of common diagnostic pitfalls and difficulties, alongside application of a stepwise approach, including (1) obtaining comprehensive clinical information, (2) thorough macroscopic examination and directed sampling, (3) meticulous microscopic examination with consideration of pitfalls and mimics, (4) effective communication with surgeons in difficult cases, and (5) consultation of subspecialty colleagues in challenging cases, will enhance pathologists' reporting accuracy and management of such cases in the future.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 842-853"},"PeriodicalIF":3.6,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141505322","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":"The characteristics and prognostic significance of histone H1 expression in breast cancer","authors":"","doi":"10.1016/j.pathol.2024.03.012","DOIUrl":"10.1016/j.pathol.2024.03.012","url":null,"abstract":"<div><p>Histone H1 (H.H1) is involved in chromatin organisation and gene regulation and is overexpressed in many malignant tumours, including breast cancer (BC). This study proposed and evaluated the prognostic role of H.H1 expression in BC.</p><p><em>H.H1</em> mRNA expression was evaluated in publicly available BC dataset bc-GenExMiner database (<em>n</em><span>=4421). H.H1 protein expression was assessed immunohistochemically in a well-characterised early-stage BC cohort (</span><em>n</em>=1311), and associations with clinicopathological data and survival outcomes were evaluated.</p><p>At the mRNA level, there was a significant association between high <em>H.H1</em><span><span> mRNA and basal-like BC subtype and with poor outcome. The association with shorter survival was observed in the whole cohort and in the basal-like class. H.H1 protein expression<span> was detected in both tumour cells and surrounding stroma. Total expression was detected in 72% of the cases, including 28% in tumour </span></span>cell nuclei and 44% in the stroma. There was strong association between high tumour H.H1 expression and triple-negative BC (TNBC) subtype (</span><em>p</em>=0.007) and with shorter survival (<em>p</em>=0.019), independent of other variables including tumour size, histologic tumour grade, and lymph node status.</p><p>H.H1 expression is associated with poor prognosis in BC. Given poor prognostic role of H.H1 in TNBC, it may represent a potential therapeutic target for patients with this aggressive disease.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 826-833"},"PeriodicalIF":3.6,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141413722","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":"Hypertonic saline dilution: a simple technique to confirm IgM-mediated paraprotein interference in uric acid analysis","authors":"","doi":"10.1016/j.pathol.2024.04.004","DOIUrl":"10.1016/j.pathol.2024.04.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 906-908"},"PeriodicalIF":3.6,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141395399","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":"Combined type A thymoma and yolk sac tumour of the mediastinum","authors":"","doi":"10.1016/j.pathol.2024.03.011","DOIUrl":"10.1016/j.pathol.2024.03.011","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 927-929"},"PeriodicalIF":3.6,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141390394","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":"HNF6 and HNF4α expression in adenocarcinomas of the liver, pancreaticobiliary tract, and gastrointestinal tract: an immunohistochemical study of 480 adenocarcinomas of the digestive system","authors":"","doi":"10.1016/j.pathol.2024.03.010","DOIUrl":"10.1016/j.pathol.2024.03.010","url":null,"abstract":"<div><p>Hepatocyte nuclear factors (HNF) 6 and 4α are master transcriptional regulators of development and maintenance of the liver and pancreaticobiliary tract in mice and humans. However, little is known about the prevalence of HNF6 and HNF4α expression in carcinomas of the hepatobiliary tract and pancreas. We aimed to reveal the diagnostic utility of HNF6 and HNF4α immunolabelling in adenocarcinomas of these organs. We investigated HNF6 and HNF4α expression by immunohistochemistry using a total of 480 adenocarcinomas of the digestive system, including 282 of the hepatobiliary tract and pancreas and 198 of the gastrointestinal tract. HNF6 expression was primarily restricted to intrahepatic cholangiocarcinomas (CCs) (63%, <em>n</em>=80) and gallbladder adenocarcinomas (43%, <em>n</em>=88), among others. Notably, small duct intrahepatic CCs almost invariably expressed HNF6 (90%, <em>n</em>=42), showing stark contrast to a low prevalence in large duct intrahepatic CCs (10%, <em>n</em>=21; <em>p</em>&lt;0.0001). HNF6 expression was infrequent in extrahepatic CCs (9%, <em>n</em>=55) and pancreatic ductal adenocarcinomas (7%, <em>n</em>=58), and it was rare in adenocarcinomas of the gastrointestinal tract [oesophagus/oesophagogastric junction (EGJ) (2%, <em>n</em>=45), stomach (2%, <em>n</em>=86), duodenum (0%, <em>n</em>=25), and colorectum (0%, <em>n</em>=42)]. In contrast, HNF4α was widely expressed among adenocarcinomas of the digestive system, including intrahepatic CCs (88%), extrahepatic CCs (94%), adenocarcinomas of the gallbladder (98%), pancreas (98%), oesophagus/EGJ (96%), stomach (98%), duodenum (80%), and colorectum (100%). HNF6 was frequently expressed in and almost restricted to intrahepatic CCs of small duct type and gallbladder adenocarcinomas, while HNF4α was expressed throughout adenocarcinomas of the digestive system. HNF6 immunolabelling may be useful in distinguishing small duct intrahepatic CCs from other types of CC as well as metastatic gastrointestinal adenocarcinomas.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 804-813"},"PeriodicalIF":3.6,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001387/pdfft?md5=ce150f4912df8fb7077ac96edca95ba2&pid=1-s2.0-S0031302524001387-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141401189","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":"First reported case of Trichophyton indotineae dermatophytosis in Singapore","authors":"","doi":"10.1016/j.pathol.2024.04.003","DOIUrl":"10.1016/j.pathol.2024.04.003","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 909-913"},"PeriodicalIF":3.6,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141277539","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":"The histopathological spectrum and molecular changes associated with KRAS G12C mutation in non-small cell lung carcinoma","authors":"","doi":"10.1016/j.pathol.2024.04.002","DOIUrl":"10.1016/j.pathol.2024.04.002","url":null,"abstract":"<div><p><em>KRAS</em> G12C is the most common <em>KRAS</em><span> mutation in non-small cell lung carcinoma<span> (NSCLC), for which targeted therapy has recently been developed.</span></span></p><p><span>From the 732 cases of NSCLC that underwent next-generation sequencing at the Department of Anatomical Pathology, Liverpool Hospital, between July 2021 and May 2023, we retrieved 83 (11%) consecutive cases </span><em>of KRAS</em> G12C mutated NSCLC, and analysed their clinical, pathological, and molecular features.</p><p>Of the 83 cases of <em>KRAS</em><span><span> G12C mutated NSCLC, there were 46 (55%) men and 37 (45%) women, with mean age of 72 years. Of the 49 cases with known clinical information, 94% were current or ex-smokers, and 49% were stage IV at diagnosis with median survival of 12 months. Sixty-three percent were histology cases and the remainder were cytology cases. Eighty-two percent were non-mucinous adenocarcinomas, with conventional histology including lepidic, acinar, solid, single cells and </span>micropapillary<span> patterns, and 62% were poorly differentiated. There were five (6%) cases of mucinous adenocarcinoma, one case of pleomorphic carcinoma and one case of high-grade fetal adenocarcinoma. TTF1 was positive in the majority (89%) of cases. Nineteen (23%) cases had </span></span><em>TP53</em> co-mutation, and these cases had trends towards higher PD-L1 expression, poor differentiation, and presentation as stage IV disease, but the differences were not statistically significant.</p><p><em>KRAS</em> G12C mutated NSCLCs almost exclusively occurred in smokers and were mostly non-mucinous adenocarcinomas with conventional histological patterns which ranged from well to poorly differentiated. Around a quarter had <em>TP53</em> co-mutation, the histological impacts and immune profile of which need to be assessed in a larger study.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 786-794"},"PeriodicalIF":3.6,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141414178","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":"Cytokeratin 15 is a novel and independent predictor of poor outcome in luminal B HER2-negative breast carcinomas","authors":"","doi":"10.1016/j.pathol.2024.03.009","DOIUrl":"10.1016/j.pathol.2024.03.009","url":null,"abstract":"<div><p>Cytokeratin 15<span> (CK15) has been described as a stem cell marker in human organs and its expression is seen in breast tissue. CK15 expression is associated with aggressive features in endometrial and oesophageal cancers, but data on the breast are lacking. This study aims to investigate the clinicopathological associations and prognostic significance of CK15 in breast carcinomas.</span></p><p>A multi-institute cohort of breast carcinomas were retrieved. Clinicopathological and outcome data were obtained and compared with immunohistochemical expression CK15 and a panel of biomarkers.</p><p>In total, 1,476 cases were included, with an expression rate of 3.5%, preferentially expressed in luminal subtypes (<em>p</em>=0.024), with luminal B carcinomas being the highest (4.7%), as opposed to basal-like (1%) and HER2-overexpressed carcinomas (0%). Except for nodal stage (<em>p</em><span>=0.013) and nodal metastasis (</span><em>p</em>=0.048), oestrogen (<em>p</em><span>=0.035) and progesterone receptor (</span><em>p</em><span>=0.001) positivity, there were no associations with other clinicopathological parameters. A trend was observed with shorter breast cancer specific survival (BCSS) in CK15-positive luminal B carcinomas (</span><em>p</em><span>=0.062). On further subgroup multivariate analysis of luminal B HER2-negative carcinomas, CK15 expression exhibited robust correlation with shorter BCSS (HR=9.004, </span><em>p</em>=0.001) and disease-free survival (HR=7.085, <em>p</em>&lt;0.001).</p><p>Restricted to luminal breast carcinomas, specifically luminal B HER2-negative, CK15 is demonstrated to be a robust independent predictor of higher risk of recurrence and shorter survival, with potential as a clinical prognostic marker and an exclusive stem cell marker for this subgroup of carcinomas.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 834-841"},"PeriodicalIF":3.6,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141414342","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}