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Immunological Explanations for Autism Initiation From Inflammation and Neurotoxins. 炎症和神经毒素引发自闭症的免疫学解释。
IF 2.2 4区 医学
Apmis Pub Date : 2026-04-01 DOI: 10.1111/apm.70207
Kevin Roe
{"title":"Immunological Explanations for Autism Initiation From Inflammation and Neurotoxins.","authors":"Kevin Roe","doi":"10.1111/apm.70207","DOIUrl":"10.1111/apm.70207","url":null,"abstract":"<p><p>Autism initiation has been associated with genetic vulnerabilities, disruption of gastrointestinal microbes (gut dysbiosis), chemical and neurotoxin damage, maternal infections, allergies or autoimmune diseases. Ingested neurotoxin barriers protecting the central nervous system of a fetus or child include the gastrointestinal wall of the mother or child and the fetus or child's blood-brain barrier. Inflammation from gut dysbiosis or inflammation from other causes can decrease protections provided by the gastrointestinal wall and the blood-brain barrier, allowing neurotoxins to reach the fetus or child's brain. Postnatal gut dysbiosis can potentially increase inflammation to facilitate neurotoxin penetration of a child's brain. Chemical pollutants and neurotoxins continue to increase and include aluminum, mercury, lead, arsenic, cadmium, organophosphates, organochlorines, bacterial toxins and fungal mycotoxins. Gut dysbiosis can increase neurotoxin concentrations within a fetal or child's brain, potentially initiating neurodevelopmental damage to cause autism. There are three possible scenarios initiating autism. These scenarios include inflammation and neurotoxin access to fetal brains within the prenatal neurodevelopment period, inflammation and neurotoxin access to child brains within the postnatal neurodevelopment period, or a two-stage neurotoxin access to brains within the prenatal and postnatal neurodevelopment periods. In summary, a comprehensive explanation for autism causation by several distinct pathways is discussed.</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":"e70207"},"PeriodicalIF":2.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147687767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Deep Learning-Based Tumor Cell Classification in Lung Adenocarcinoma With a Case-by-Case Human-in-the-Loop Approach. 基于深度学习的肺腺癌肿瘤细胞分类与个案-人在环方法。
IF 2.2 4区 医学
Apmis Pub Date : 2026-04-01 DOI: 10.1111/apm.70208
Martin Stampe, Pia Klausen, Ida Skovgaard Christiansen, Charlotte Vestrup Rift, Peter Rindom Koffeldt, Rasmus Hartvig, Eric Santoni-Rugiu, Thomas H L Jensen
{"title":"Deep Learning-Based Tumor Cell Classification in Lung Adenocarcinoma With a Case-by-Case Human-in-the-Loop Approach.","authors":"Martin Stampe, Pia Klausen, Ida Skovgaard Christiansen, Charlotte Vestrup Rift, Peter Rindom Koffeldt, Rasmus Hartvig, Eric Santoni-Rugiu, Thomas H L Jensen","doi":"10.1111/apm.70208","DOIUrl":"10.1111/apm.70208","url":null,"abstract":"<p><p>Deep learning networks trained for classification of single cells in hematoxylin and eosin-stained (H&E) sections are limited in accuracy. We hypothesize the accuracy of a pathologist to be 98%-100%. Digital classification should be on par with this to be relevant. Here is presented a human-in-the-loop approach, where cell classification is fine-tuned by the pathologist during microscopy. The approach was established and tested on H&E-stained histological slides of pulmonary adenocarcinomas (LUADs). Networks pretrained on a limited selection of typical cells reached an average true positive rate (TPR) of 0.989 for classification of LUAD tumor cells within a high-power field (HPF), with 20 additional tumor cells included from the tumor investigated. Results were consistent on three HPFs, yielding means of Dice = 0.991, TPR = 0.987, precision = 0.996, and specificity = 0.988. Networks trained and tested on a smaller dataset of LUADs from The Cancer Genome Atlas demonstrated means of Dice = 0.951, TPR = 0.944, precision = 0.96, and specificity = 0.951. Classification of LUAD tumor cells by networks based and tested on data from the same source is comparable to that of a pathologist. The output is interpretable, validatable, and applicable in routine pathology.</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":"e70208"},"PeriodicalIF":2.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147687781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From 3D Surface Documentation to Visualization in Forensic Practice: A Review of Current Methods and Emerging Technologies. 从3D表面文件到法医实践中的可视化:对当前方法和新兴技术的回顾。
IF 2.2 4区 医学
Apmis Pub Date : 2026-04-01 DOI: 10.1111/apm.70215
Haruki Fukuda, Lars Ebert, Florian Kreitmeier, Sebastian Eggert, Eva Meixner, Tadashi Hosoya, Wolf Schweitzer, Constantin Lux
{"title":"From 3D Surface Documentation to Visualization in Forensic Practice: A Review of Current Methods and Emerging Technologies.","authors":"Haruki Fukuda, Lars Ebert, Florian Kreitmeier, Sebastian Eggert, Eva Meixner, Tadashi Hosoya, Wolf Schweitzer, Constantin Lux","doi":"10.1111/apm.70215","DOIUrl":"10.1111/apm.70215","url":null,"abstract":"<p><p>The accurate documentation of bodies, injuries, death scenes, accidents, and crime scenes is fundamental to forensic investigations. Traditional two-dimensional (2D) photography and written reports have inherent limitations in representing complex spatial relationships. Recently, three-dimensional (3D) surface documentation technologies, including laser-scanning, structured light scanning, and photogrammetry, have been integrated into forensic practice to provide accurate, measurable, and reproducible digital evidence. This review provides an overview of current 3D methods and discusses their principles, advantages, and typical applications in documenting crime scenes and human remains. Furthermore, it introduces emerging image-based reconstruction approaches, such as neural radiance fields (NeRF) and 3D Gaussian splatting (3DGS), which generate high-quality reconstructions from multiple images. The integration of 3D data into immersive environments, such as virtual reality (VR) and augmented reality (AR), is also addressed, highlighting its potential in forensic analysis, courtroom presentation, and education. With the rapid evolution of 3D technologies, it is essential to understand the strengths and limitations of each technique in forensic applications. Future developments in algorithms and immersive integration will expand digital forensic capabilities.</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":"e70215"},"PeriodicalIF":2.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147760314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
IHGAMP: Pan-Cancer HRD Prediction From Routine H&E Whole-Slide Images Using Foundation Models. IHGAMP:使用基础模型从常规H&E全片图像预测泛癌症HRD。
IF 2.2 4区 医学
Apmis Pub Date : 2026-04-01 DOI: 10.1111/apm.70211
Sanwal Ahmad Zafar, Liu Chengliang, Areeba Ali Khan, Muhammad Salman Faisal, Wei Qin
{"title":"IHGAMP: Pan-Cancer HRD Prediction From Routine H&E Whole-Slide Images Using Foundation Models.","authors":"Sanwal Ahmad Zafar, Liu Chengliang, Areeba Ali Khan, Muhammad Salman Faisal, Wei Qin","doi":"10.1111/apm.70211","DOIUrl":"10.1111/apm.70211","url":null,"abstract":"<p><p>Homologous recombination deficiency (HRD) guides PARP inhibitor and platinum-based therapy selection but relies on costly next-generation sequencing with limited accessibility. Here, we show that IHGAMP, a computational framework using vision transformer foundation models, predicts HRD from routine H&E whole-slide images with AUROC 0.766 (95% CI 0.727-0.803) using OpenCLIP embeddings on the TCGA held-out test set (n = 8109 patients, 31 cancer types), improving to 0.812 with histopathology-pretrained OpenSlideFM. External evaluation on 927 patients from seven independent cohorts confirmed generalization in adenocarcinoma/serous histologies (CPTAC-LUAD AUROC 0.723; PTRC-HGSOC platinum resistance AUROC 0.673), with attenuation in squamous histologies. True external validation using the frozen TCGA-trained model on CPTAC-LUAD yielded AUROC 0.671, confirming cross-institutional generalization. Pathway specificity analysis demonstrated that the apparent TP53 correlation was mediated through HRD (partial r = 0.112 after controlling for scarHRD), and evaluation on MMR-deficient endometrial carcinoma yielded below-random prediction (AUC = 0.445), ruling out general genomic instability capture. Sensitivity analysis across label definitions (scarHRD ≥ 33 and ≥ 42) showed robust performance, and a BRCA1/2 mutation-trained comparator performed near-randomly (AUC = 0.486), confirming that learned features reflect HRD biology beyond single-gene effects. IHGAMP supports a screening/triage role to prioritize confirmatory molecular testing where appropriate.</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":"e70211"},"PeriodicalIF":2.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147760312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Mapping the Research Landscape and Evolutionary Trends of the Oral Microbiome in Periodontitis. 牙周炎口腔微生物群的研究现状和进化趋势。
IF 2.2 4区 医学
Apmis Pub Date : 2026-04-01 DOI: 10.1111/apm.70209
Xue Wang, Yihui Ma, Ying Yang, Qingshan Dong
{"title":"Mapping the Research Landscape and Evolutionary Trends of the Oral Microbiome in Periodontitis.","authors":"Xue Wang, Yihui Ma, Ying Yang, Qingshan Dong","doi":"10.1111/apm.70209","DOIUrl":"10.1111/apm.70209","url":null,"abstract":"<p><p>The conceptual transition from the \"Red Complex\" paradigm to the \"Ecological Plaque Hypothesis\" has fundamentally reshaped the understanding of periodontitis, but a quantitative mapping of this intellectual evolution and its emerging research frontiers remains limited. This study systematically characterized the global research landscape and evolutionary trends of the oral microbiome in periodontitis from 2000 to 2025. English-language articles published between 2000 and 17 November 2025 were retrieved from the Web of Science Core Collection and Scopus databases. After deduplication, bibliometric analyses were performed on 2827 unique publications to evaluate spatiotemporal distributions, collaboration patterns, thematic evolution, and citation bursts. The results revealed exponential growth in publications, particularly after 2020, with the United States and China leading global contributions. Thematic evolution analyses demonstrated a clear shift from single-pathogen-focused research, exemplified by Porphyromonas gingivalis, toward ecological frameworks emphasizing dysbiosis and microbial community structure. Recent citation bursts highlighted growing attention to broader microbial taxa, inflammatory mediators, clinically relevant periodontal indicators, microbiome-based therapeutic strategies, and methodological standardization. Overall, research on the oral microbiome in periodontitis has evolved toward a host-microbiome systems biology framework, with future studies likely to emphasize functional multi-omics integration, AI-assisted diagnostics, and precision interventions targeting oral-systemic health links.</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":"e70209"},"PeriodicalIF":2.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147721791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
A Survey of the Microbiome, Culturome and ARG Profile of a Cohort of Chronic Diabetic Foot Lesions. 慢性糖尿病足病变的微生物组、培养和ARG概况调查。
IF 2.2 4区 医学
Apmis Pub Date : 2026-04-01 DOI: 10.1111/apm.70203
Karolina I Pyrzanowska, Elspeth N Smith, Chandra Ramalingam, Marni Greig, Rajiv A Gandhi, Susan Heyes, Debora Sanger, Tracy Smith, David G Partridge, Graham P Stafford
{"title":"A Survey of the Microbiome, Culturome and ARG Profile of a Cohort of Chronic Diabetic Foot Lesions.","authors":"Karolina I Pyrzanowska, Elspeth N Smith, Chandra Ramalingam, Marni Greig, Rajiv A Gandhi, Susan Heyes, Debora Sanger, Tracy Smith, David G Partridge, Graham P Stafford","doi":"10.1111/apm.70203","DOIUrl":"10.1111/apm.70203","url":null,"abstract":"<p><p>This study aimed to analyse the microbiome of chronic infected diabetic foot ulcers (DFUs) using parallel methods: traditional culture (the culturome), 16S rRNA gene sequencing (the microbiome) as well as the Antibiotic Resistance Gene (ARG) profile of isolated strains. Swab samples were collected in parallel from affected ulcers. The microbiome sequencing results identified that all patients had a polymicrobial flora with the five most frequent genus level OTUs as Escherichia, Staphylococcus, Streptococcus, Pseudomonas and the anaerobe Anaerococcus. Microbiological culture from the same swabs identified multiple species in all but two patient samples and revealed the most common isolates as CoNS Staphylococcus (17%), Enterococcus faecalis (14.3%), Corynebacterium spp. (10.7%), Anaerococcus spp. (7%), Staphylococcus aureus (8%) and Pseudomonas aeruginosa (6%). Enteric pathogens such as Klebsiella spp. were also frequently isolated. Attempts to revive anaerobes were largely unsuccessful, identifying a limitation in clinical microbiology storage protocols. Genome sequencing of 55 isolates revealed a high number of ARGs relating to β-lactams and tetracyclines, indicating multi-drug-resistant organisms (MDROs). This was confirmed by phenotypic antimicrobial susceptibility data that included several highly resistant Gram-negative bacteria. Overall, our data add to the picture of DFU microbiome as complex and displaying high levels of anti-microbial resistance (AMR).</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":"e70203"},"PeriodicalIF":2.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13086565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147697400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rationale and Design of the MIA Trial: A Proof-of-Concept Study of Minimally Invasive Autopsy in an Infectious Cause of Death in a Scandinavian ICU Setting MIA试验的基本原理和设计:斯堪的纳维亚ICU环境中感染性死因微创尸检的概念验证研究
IF 2.6 4区 医学
Apmis Pub Date : 2026-03-30 DOI: 10.1111/apm.70190
Fridtjof Gjerdrum Helgesen, Birgitte Grønkær Toft, Camilla Musaeus Donato, Ulf Gøttrup Pedersen, Thomas Hildebrandt, Xiaohui Chen Nielsen, Eric Santoni-Rugiu, Gro Linno Willemoe, Lothar Wiese, Henning Bay Nielsen
{"title":"Rationale and Design of the MIA Trial: A Proof-of-Concept Study of Minimally Invasive Autopsy in an Infectious Cause of Death in a Scandinavian ICU Setting","authors":"Fridtjof Gjerdrum Helgesen,&nbsp;Birgitte Grønkær Toft,&nbsp;Camilla Musaeus Donato,&nbsp;Ulf Gøttrup Pedersen,&nbsp;Thomas Hildebrandt,&nbsp;Xiaohui Chen Nielsen,&nbsp;Eric Santoni-Rugiu,&nbsp;Gro Linno Willemoe,&nbsp;Lothar Wiese,&nbsp;Henning Bay Nielsen","doi":"10.1111/apm.70190","DOIUrl":"10.1111/apm.70190","url":null,"abstract":"<p>It remains a challenge to obtain well-preserved tissue samples from deceased patients as access to regular autopsy is limited. Minimally invasive autopsy (MIA) is a potential alternative to the complete diagnostic autopsy because of its efficacy in providing non-autolyzed tissue samples and its increased acceptability amongst the bereaved. The study follows an exploratory, prospective design without any kind of intervention. Inclusion criteria are deceased adults (≥ 18 years), confirmed signs of death, uncertain or multifactorial cause of death, present or previous infection, and permission from next of kin to perform MIA, defined by ultrasound (US)-guided samples from the heart, lungs, liver, spleen, and kidneys using a TruCut semi-automatic coaxial needle (14G; 16 cm length). Tissue samples, fixed in BiopSafe 20 mL formalin test tubes, are sent for pathological evaluation. The primary outcome is the achievement of well-preserved tissue samples, representative of the target organ and suitable for histopathological evaluation and diagnosis. An exploratory outcome is to establish the degree of clinico-pathological discrepancies between pre-mortem clinical status and post-mortem pathological descriptions. This investigator-initiated study is designed to validate the feasibility of MIA to enable fast-track post-mortem evaluation in an ICU environment.</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13035448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147580222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlation of TP53 Mutations With p53 Expression and Ki-67 Index in Pulmonary Large Cell Neuroendocrine Carcinomas 肺大细胞神经内分泌癌TP53突变与p53表达及Ki-67指数的相关性
IF 2.6 4区 医学
Apmis Pub Date : 2026-03-30 DOI: 10.1111/apm.70189
Martin Stampe, Jonas Smidt, Linea Melchior, Morten Grauslund, Birgitte Federspiel, Eric Santoni-Rugiu, Thomas Hartvig Lindkær Jensen
{"title":"Correlation of TP53 Mutations With p53 Expression and Ki-67 Index in Pulmonary Large Cell Neuroendocrine Carcinomas","authors":"Martin Stampe,&nbsp;Jonas Smidt,&nbsp;Linea Melchior,&nbsp;Morten Grauslund,&nbsp;Birgitte Federspiel,&nbsp;Eric Santoni-Rugiu,&nbsp;Thomas Hartvig Lindkær Jensen","doi":"10.1111/apm.70189","DOIUrl":"10.1111/apm.70189","url":null,"abstract":"<p>This study explores the locations and distribution of mutations in the exons of the <i>TP53</i> gene in pulmonary large cell neuroendocrine carcinomas (LCNEC) and the corresponding expression of p53 as well as the Ki-67 proliferation index. Real-world data from routine diagnostics were collected retrospectively from 149 consecutive cases of pulmonary LCNEC. They included next-generation sequencing (NGS) of the <i>TP53</i> gene along with evaluation of p53 and Ki-67 expression with immunohistochemistry (IHC). Abnormal p53 expression was defined as strong positive nuclear reaction in more than 20% of the tumor cells or complete absence of immunostaining in tumor cells. Both p53 expression and Ki-67 proliferation index correlated with <i>TP53</i> mutations. In addition, a statistically significant increase in Ki-67 expression was found for cases with abnormal staining of p53 compared to samples with normal staining. We found that IHC staining for p53 can identify <i>TP53</i> mutations in pulmonary LCNEC with an overall concordance of 76.6%. Moreover, both pathological patterns of p53 immunostaining and NGS-detected <i>TP53</i> mutations were associated with higher Ki-67 proliferation indices.</p>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13035449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147580235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deciphering Morphological Spectrum, Stemness and PI3K/AKT/PTEN/MAPK Pathway Alterations in Metaplastic Breast Carcinoma 解析化生乳腺癌的形态学谱、干性和PI3K/AKT/PTEN/MAPK通路改变。
IF 2.6 4区 医学
Apmis Pub Date : 2026-03-27 DOI: 10.1111/apm.70188
Venkat Shashidhar Chittapragada, Parul Gupta, Arvind Sekar, Siddhant Khare, Santosh Irrinki, Amanjit Bal
{"title":"Deciphering Morphological Spectrum, Stemness and PI3K/AKT/PTEN/MAPK Pathway Alterations in Metaplastic Breast Carcinoma","authors":"Venkat Shashidhar Chittapragada,&nbsp;Parul Gupta,&nbsp;Arvind Sekar,&nbsp;Siddhant Khare,&nbsp;Santosh Irrinki,&nbsp;Amanjit Bal","doi":"10.1111/apm.70188","DOIUrl":"10.1111/apm.70188","url":null,"abstract":"<div>\u0000 \u0000 <p>Metaplastic breast carcinoma (MBC) is a heterogenous group of invasive breast cancer with distinct morphological patterns and negativity for hormone receptors and HER2. The pathogenesis of MBC is unknown but tumour cells exhibit epithelial-mesenchymal transition and breast cancer stem cell–like characteristics. Genomic characterisation of these tumours can lead to identification of targetable mutations which may help in improving the overall treatment outcome. Sixty-seven retrospective cases of MBC were sub-classified morphologically. Cytoplasmic expression of ALDH1 was evaluated using IHC to estimate the stemness. Alteration in PI3K/AKT/PTEN/MAPK pathway was studied using next generation sequencing (<i>n</i> = 47). Histological subtypes were squamous cell carcinoma (<i>n</i> = 25), Metaplastic carcinoma with heterologous mesenchymal differentiation (<i>n</i> = 19), spindle cell carcinoma (<i>n</i> = 19), Fibromatosis like metaplastic carcinoma (<i>n</i> = 3), and Mixed metaplastic carcinoma (<i>n</i> = 1). ALDH1 was positive in 31.3% cases. <i>PI3K</i> was the most frequently altered gene followed by <i>PTEN, TP53</i> and <i>MAPK1</i> gene. <i>PI3K</i> alterations were more frequent in Spindle cell carcinoma and squamous carcinoma This study identified high frequency of stem cell marker and targetable genetic alterations in the PI3K signalling pathway. Thus, Inhibitors of the PI3K signalling pathway are ideal candidates for targeted therapy for MBC irrespective of histological subtype.</p>\u0000 </div>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 4","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147525649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Goblet Cell Adenocarcinoma of Appendix- Clinicopathological Analysis of a Rare Neoplasm—A Tertiary Care Center Study 阑尾杯状细胞腺癌-一种罕见肿瘤的临床病理分析-三级保健中心研究。
IF 2.6 4区 医学
Apmis Pub Date : 2026-03-25 DOI: 10.1111/apm.70180
Shilpi Thakur, Rajni Yadav, Sagir Akhtar, Rimlee Dutta, Surbhi Goyal, M. D. Ray, Manjunath Pol, Kamal Kataria, Vineet Ahuja, Prasenjit Das, Sandeep Mathur, Puja Sakhuja, Mohammed Imran
{"title":"Goblet Cell Adenocarcinoma of Appendix- Clinicopathological Analysis of a Rare Neoplasm—A Tertiary Care Center Study","authors":"Shilpi Thakur,&nbsp;Rajni Yadav,&nbsp;Sagir Akhtar,&nbsp;Rimlee Dutta,&nbsp;Surbhi Goyal,&nbsp;M. D. Ray,&nbsp;Manjunath Pol,&nbsp;Kamal Kataria,&nbsp;Vineet Ahuja,&nbsp;Prasenjit Das,&nbsp;Sandeep Mathur,&nbsp;Puja Sakhuja,&nbsp;Mohammed Imran","doi":"10.1111/apm.70180","DOIUrl":"10.1111/apm.70180","url":null,"abstract":"<div>\u0000 \u0000 <p>Goblet cell adenocarcinoma (GCA) is a rare tumor described exclusively in the appendix, comprising &lt; 1% of gastrointestinal tumors. The 2019 WHO classification of tumors of the digestive system has renamed and defined it. This study aims to analyze the clinical presentation and evaluate the histomorphological profile of GCA. A retrospective search of our database was done spanning a period of 10.5 years (July 2014–January 2025). Clinicopathological features were analyzed. Fourteen patients included had a median age of 50 years at the time of diagnosis with a male to female ratio of 1:0.75. Six patients presented with symptoms of acute to subacute intestinal obstruction. On imaging, these patients revealed circumferential thickening in the ileocecal region. Three of the female patients presented with symptoms predominantly pertaining to the gynecological tract. Histopathological evaluation revealed tubules and clusters of goblet-like mucinous cells with a variable number of endocrine cells and Paneth-like cells. Overall mean survival was 26 months and the median survival was 24 months. Recognition of GCA warrants a high degree of suspicion as they may present to different clinical departments owing to highly variable presentation and can be mistaken for signet ring cell adenocarcinoma on biopsy samples.</p>\u0000 </div>","PeriodicalId":8167,"journal":{"name":"Apmis","volume":"134 3","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147509042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
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