3,097 results match your criteria: "Institute of Pathology and.[Affiliation]"

Article Synopsis
  • Histological assessment of autoimmune hepatitis (AIH) is difficult, particularly with nonclassical features like bile-duct injury being understudied.
  • Researchers developed an AI tool, called AI(H), to analyze liver biopsy slides from patients with AIH, using 123 pre-treatment biopsies for training.
  • The AI models demonstrated high accuracy in detecting various features related to AIH, including tissue structures and immune cells, offering a more detailed and reproducible assessment compared to manual analysis.
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Background: Cholangiocarcinoma (CCA) is a fatal cancer of the bile duct with a poor prognosis owing to limited therapeutic options. The incidence of intrahepatic CCA (iCCA) is increasing worldwide, and its molecular basis is emerging. Environmental factors may contribute to regional differences in the mutation spectrum of European patients with iCCA, which are underrepresented in systematic genomic and transcriptomic studies of the disease.

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Histological subtyping of hepatocellular carcinoma (HCC) is challenging in the presence of histological heterogeneity, where distinctly different morphological patterns are present within the same tumor. Current approaches rely on percent cut-offs. We hypothesized that morphologic intratumor heterogeneity is a non-random biological feature and that incorporating recurrent patterns would improve histological subtyping of HCC.

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Article Synopsis
  • ALK-rearranged renal cell carcinoma (ALK-RCC) is a rare subtype of kidney cancer recently recognized by the WHO, characterized by unique molecular traits.
  • A study reviewed 9 cases, finding a mean patient age of 34.4 years, with varying tumor sizes and outcomes, where most patients showed no recurrence.
  • The tumors exhibited diverse growth patterns and distinctive cellular features, and all were confirmed to have ALK rearrangements through immunohistochemical and genetic testing.
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The WERA cancer center matrix: Strategic management of patient access to precision oncology in a large and mostly rural area of Germany.

Eur J Cancer

August 2024

Comprehensive Cancer Center Ostbayern, 93053 Regensburg, Germany; Department of Internal Medicine III, Hematology and Oncology, University Hospital Regensburg, 93053 Regensburg, Germany; Division of Personalized Tumor Therapy, Fraunhofer Institute for Toxicology and Experimental Medicine, 93053 Regensburg, Germany.

Purpose: Providing patient access to precision oncology (PO) is a major challenge of clinical oncologists. Here, we provide an easily transferable model from strategic management science to assess the outreach of a cancer center.

Methods: As members of the German WERA alliance, the cancer centers in Würzburg, Erlangen, Regensburg and Augsburg merged care data regarding their geographical impact.

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HMMR triggers immune evasion of hepatocellular carcinoma by inactivation of phagocyte killing.

Sci Adv

June 2024

Department of Oncology & Cancer Institute, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu 610072, P. R. China.

Hepatocellular carcinoma (HCC) acquires an immunosuppressive microenvironment, leading to unbeneficial therapeutic outcomes. Hyaluronan-mediated motility receptor (HMMR) plays a crucial role in tumor progression. Here, we found that aberrant expression of HMMR could be a predictive biomarker for the immune suppressive microenvironment of HCC, but the mechanism remains unclear.

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Article Synopsis
  • Advances in single-cell RNA sequencing (scRNA-seq) and spatially resolved transcriptomics (SRT) have increased the need for effective bioinformatics tools, with data simulation being crucial for method evaluation.
  • A thorough assessment of 49 simulation methods revealed SRTsim, scDesign3, ZINB-WaVE, and scDesign2 as top performers, highlighting trade-offs between method accuracy and scalability.
  • The study emphasizes that no single method excels in all areas, and offers guidelines and tools for selecting appropriate simulation methods while addressing common challenges like parameter estimation errors.
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Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.

Gene

November 2024

Laboratory of Human Molecular Genetics, Faculty of Medecine of Sfax, University of Sfax, Tunisia; Medical Genetics Department, HediChaker Hospital, Sfax, Tunisia.

The orchestration of fetal kidney development involves the precise control of numerous genes, including HNF1A, HNF1B and PKHD1. Understanding the genetic factors influencing fetal kidney development is essential for unraveling the complexities of renal disorders. This study aimed to search for disease-causing variants in HNF1A, HNF1B, PKHD1 genes, among fetus and babies or via parental samples, using sanger sequencing, NGS technologie and MLPA.

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Article Synopsis
  • The study aims to improve the histological grading system for prostate cancer to better predict metastatic potential by focusing on specific high-risk patterns known as 'unfavourable histology.'
  • Two patient cohorts were analyzed, one with long-term follow-up and the other with confirmed metastatic disease, to assess the impact of unfavourable histology on outcomes like biochemical recurrence and death.
  • The findings showed that unfavourable histology significantly predicts outcomes, with high sensitivity for predicting recurrence and metastasis, suggesting that incorporating this model could enhance current grading practices in prostate cancer.
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The STAR tool was used to evaluate and analyze the science, transparency, and applicability of Chinese pathology guidelines and consensus published in medical journals in 2022. There were a total of 18 pathology guidelines and consensuses published in 2022, including 1 guideline and 17 consensuses. The results showed that the guideline score was 21.

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Molecular classification, particularly microsatellite instability-high (MSI-H), has gained attention for immunotherapy in endometrial cancer (EC). MSI-H is associated with DNA mismatch repair defects and is a crucial treatment predictor. The NCCN guidelines recommend pembrolizumab and nivolumab for advanced or recurrent MSI-H/mismatch repair deficient (dMMR) EC.

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Ovarian angiosarcoma (OA) is rare, with only sporadic cases reported in English literature. We performed a systematic review of cases published in the PubMed, Science Direct, and Google Scholar databases with the aim of describing the reported clinicopathological features of OA. Fifty-three articles that reported 60 patients were reviewed.

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Alterations in the function of K channels such as the voltage- and Ca-activated K channel of large conductance (BK) reportedly promote breast cancer (BC) development and progression. Underlying molecular mechanisms remain, however, elusive. Here, we provide electrophysiological evidence for a BK splice variant localized to the inner mitochondrial membrane of murine and human BC cells (mitoBK).

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A fully diagnostic MRI glioma protocol is key to monitoring therapy assessment but is time-consuming and especially challenging in critically ill and uncooperative patients. Artificial intelligence demonstrated promise in reducing scan time and improving image quality simultaneously. The purpose of this study was to investigate the diagnostic performance, the impact on acquisition acceleration, and the image quality of a deep learning optimized glioma protocol of the brain.

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Distinct roles of TREM2 in central nervous system cancers and peripheral cancers.

Cancer Cell

June 2024

Department of Neurosurgery, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China; Guangdong Provincial Key Laboratory of Brain Function and Disease, Guangzhou, Guangdong 510080, China. Electronic address:

Glioblastomas (GBM) are incurable central nervous system (CNS) cancers characterized by substantial myeloid cell infiltration. Whether myeloid cell-directed therapeutic targets identified in peripheral non-CNS cancers are applicable to GBM requires further study. Here, we identify that the critical immunosuppressive target in peripheral cancers, triggering receptor expressed on myeloid cells-2 (TREM2), is immunoprotective in GBM.

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In this study, we report the mutational profiles, pathogenicity, and their association with different clinicopathologic and sociogenetic factors in patients with Pashtun ethnicity for the first time. A total of 19 FFPE blocks of invasive ductal carcinoma (IDC) from the Breast Cancer (BC) tissue and 6 normal FFPE blocks were analyzed by whole-exome sequencing (WES). Various somatic and germline mutations were identified in cancer-related genes, i.

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We present a case of a 58-year-old man with a history of laryngo-pharyngectomy including bilateral thyroidectomy due to hypopharyngeal cancer presenting with lethargy, acute kidney failure, and hypercalcemia. Milk alkali syndrome was diagnosed given the history of high-dose calcium / vitamin D supplementation after ruling out other causes of hypercalcemia. After initial treatment with normal saline, furosemide and denosumab, the patient developed severe symptomatic hypocalcemia as a rare adverse effect of denosumab.

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BACKGROUND Soft tissue tumors have various subtypes, among which sarcomas exhibit high malignant potential and poor prognosis. Malignant epithelioid tumor with GLI1 alterations was originally found in myopericytoma with t(7;12) translocation. However, recent studies indicated that it is a distinct tumor type characterized by multiple nodular distributions of oval or round epithelioid cells with a rich capillary network and a lack of specific immunophenotype.

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Follicular helper T-cell (TFH) lymphoma harbors recurrent mutations of RHOA, IDH2, TET2, and DNMT3A. TET2 and DNMT3A mutations are the most frequently affected genes in clonal hematopoiesis (CH). The aim of our study was to investigate the frequency of CH in bone marrow biopsies (BMB) of TFH/angioimmunoblastic T-cell lymphoma (TFH-AITL) patients and its association with myeloid neoplasms.

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Follicular lymphoma (FL) is an indolent B-cell neoplasm characterised by multistep evolution from premalignant precursor cells carrying the hallmark t(14;18) translocation in the majority of cases. In a new article in The Journal of Pathology, samples of relapsed early-stage FL - primary manifestation and relapse with or without transformation - initially treated with radiotherapy only, were studied for clonal relationships and evolution. Using somatic mutations and the rearranged immunoglobulin sequences as markers, the majority of paired lymphoma samples showed so-called branched evolution from a common, possibly premalignant progenitor cell, with both shared and private mutations.

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Predictive molecular pathology after prolonged fixation: A study on tissue from anatomical body donors.

Exp Mol Pathol

June 2024

Institute of Pathology and Molecular Pathology, Federal Army Hospital, Oberer Eselsberg 40, 89081 Ulm, Germany. Electronic address:

Histopathological assessment of tissue samples after prolonged formalin fixation has been described previously, but currently there is only limited knowledge regarding the feasibility of molecular pathology on such tissue. In this pilot study, we tested routine molecular pathology methods (DNA isolation, DNA pyrosequencing/next-generation sequencing, DNA methylation analysis, RT-PCR, clonality analysis and fluorescence in situ hybridization) on tissue samples from 11 tumor entities as well as non-neoplastic brain tissue from 43 body donors during the gross anatomy course at Ulm University (winter semester 2019/20 and 2020/21). The mean post mortem interval until fixation was 2.

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Superficial fibromas with CTNNB1 mutation.

Genes Chromosomes Cancer

May 2024

Gerhard Domagk Institute of Pathology, University Hospital Münster, Münster, Germany.

Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superficial fibromas is Gardner fibroma, a plaque-like benign tumor, which is associated with APC germline mutations and occurs in patients with familial adenomatosis polyposis (Gardner syndrome).

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Aims: Intrahepatic cholangiocarcinoma (iCCA) is a diagnosis of exclusion that can pose a challenge to the pathologist despite thorough clinical workup. Although several immunohistochemical markers have been proposed for iCCA, none of them reached clinical practice. We here assessed the combined usage of two promising diagnostic approaches, albumin in situ hybridisation (Alb-ISH) and C reactive protein (CRP) immunohistochemistry, for distinguishing iCCA from other adenocarcinoma primaries.

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From rare events to systematic data collection: the RESCUED registry for sudden cardiac death in the young in Germany.

Clin Res Cardiol

May 2024

Centre for Sudden Cardiac Death and Familial Arrhythmias (CSCD), Institute of Legal Medicine, University Hospital Frankfurt, Goethe-University, Frankfurt/Main, Germany.

Background: Approximately one-third of sudden cardiac deaths in the young (SCDY) occur due to a structural cardiac disease. Forty to fifty percent of SCDY cases remain unexplained after autopsy (including microscopic and forensic-toxicological analyses), suggesting arrhythmia syndromes as a possible cause of death. Due to the possible inheritability of these diseases, blood relatives of the deceased may equally be carriers of the causative genetic variations and therefore may have an increased cardiac risk profile.

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