Ceskoslovenska patologie最新文献

In this article, we describe the course and diagnosis of pulmonary alveolar proteinosis (PAP) based on two cases from our practice. The first case is a 52-yearold woman, the second a 34-year-old man. Both referred patients were examined by a pulmonologist for interstitial lung disease, in the first case also with transition to pulmonary fibrosis. As part of the differential diagnosis, these patients were hospitalized at the NÚTPCHaHCH in Vyšné Hágy. Chest X-ray showed diffuse bilateral lung infiltrates, in the first patient locally confluent. Chest CT showed parenchymal involvement of the lungs with bilateral ground-glass opacities with thickened interlobular septa (crazy paving). Bronchoscopic examination was performed in both patients with bronchoalveolar lavage, which had a characteristic milky-glazed appearance. Videothoracoscopic lung biopsy was additionally indicated and histopathologically there were pulmonary alveolar proteinosis confirmed. Therapeutically, the patients underwent large volume lung lavage, with clinical condition improvement, including radiological findings improvement. We point out the basic pillars of the diagnosis of pulmonary alveolar proteinosis, which are the pattern of pulmonary involvement in the radiographic and CT (or HRCT) images, the characteristic appearance of the bronchoalveolar lavage fluid, and additionally also the histopathologic pattern of pulmonary involvement in this disease. We emphasize the need for centralized management of patients with lung diseases, which is particularly urgent in cases of rare diseases, where it provides rapid availability of all relevant diagnostic and therapeutic options, including large-volume lung lavage.

Cholangiocellular carcinoma (cholangiocarcinoma, CCA) is a heterogeneous group of malignant epithelial tumors of the bile ducts, with varying classifications and molecular characteristics. CCA can arise in intrahepatic, perihilar, or extrahepatic bile ducts, with its incidence rising globally, particularly in Southeast Asia due to liver fluke infections. Other risk factors include primary sclerosing cholangitis, viral hepatitis, gallstones, congenital bile duct malformations, and cirrhosis. CCA is often diagnosed at advanced stages and has a poor prognosis. This article summarizes the complex classification systems of CCA and biliary precancerous lesions (biliary intraepithelial neoplasia, BilIN), focusing on morphology, molecular profiles, and clinical implications. It briefly addresses the differential diagnosis between CCA and BilIN, distinguishing intrahepatic from extrahepatic CCA, as well as differentiating CCA from hepatocellular carcinoma (HCC) and metastatic adenocarcinomas. Alongside selected literature, experiences from our institution using various immunohistochemical methods (CRP, S100P, IMP3) are presented, highlighting their relevance in routine practice. The majority of the article focuses on the molecular pathology of CCA, where mutation profiles differ according to anatomical subtypes. Intrahepatic CCA more frequently harbors mutations in IDH1/2, FGFR, and BAP1, while perihilar and extrahepatic CCAs are more likely to exhibit mutations in TP53, KRAS, and ERBB2. Alterations in FGFR2 and IDH1 are associated with better prognosis, while TP53 and KRAS mutations indicate worse outcomes. The article provides an overview of genetic alterations that are targetable with current oncological therapies, including FDA-approved inhibitors for FGFR2 (pemigatinib, futibatinib) and IDH1 (ivosidenib), along with inhibitors targeting BRAF, HER2, NTRK, and immunotherapies for MSI-high and TMB-high tumors. Intrahepatic CCA presents a broader spectrum of therapeutic targets, including rare fusions (ALK, RET), compared to perihilar and extrahepatic CCA, which share a poor prognosis and limited therapeutic options with pancreatic cancer. In this regard, intrahepatic CCA may become the "non-small cell lung cancer of gastrointestinal oncology."

According to the current recommended criteria for the diagnosis and staging of the Lewy body disease, it is necessary to evaluate the presence of Lewy bodies and Lewy neurites in specific areas of the brain. The most widely used staging systems assess the degree of neurodegeneration based on the distribution of Lewy pathology across specific anatomical regions of the brain, progressing in a caudo-rostral trajectory. Choosing the right antibody clone and using an optimized protocol including effective antigen retrieval is essential for the visualization of diagnostic deposits. The aim of our study was to evaluate the utility of some commercially available and widely used primary antibodies against alpha-synuclein in the context of post mortem diagnosis and staging of Lewy body disease. We focused on immunohistochemical and immunofluorescence analysis of Lewy pathology using antibodies with epitopes in all parts of the alphasynuclein polypeptide chain, including a conformation-specific clone and a clone for the detection of post-translationally modified protein.

X-ray microtomography (microCT) represents a modern high-resolution imaging technology enabling detailed analysis of the tissue. It offers a unique perspective on three-dimensional architecture, bridging the gap between macroscopic and histological imaging. In anatomical pathology, microCT is particularly utilized for morphometric tumor analysis, evaluation of surgical specimen resection margins, and detection of metastases in lymph nodes. The combination of microCT with traditional histopathological techniques, and with digital 3D reconstructions, opens new avenues for analyzing complex pathological processes. Although this method is currently used in research, its clinical potential is significant. Key advantages include non-invasive imaging and the ability to be integrated with digital pathology and artificial intelligence tools. Current limitations include the need for sample contrast enhancement, the monochromatic nature of the images, and high radiation exposure. Advances in technological development, however, may overcome these barriers and enable the broader adoption of microCT in routine clinical diagnostics. This article explores the diagnostic potential of microCT in pathology, highlighting its applications, advantages, and limitations, while offering insights into current capabilities and future perspectives of this technology.

Stenosis of the bile ducts is a relatively common disease arising from benign or more often malignant causes. As a result of stenosis, bile flow is interrupted, obstructive jaundice in some cases leads to inflammation of the bile ducts. The decision on the etiology of stenosis is crucial and is made on the basis of a summary of the clinical picture and the findings of laboratory and imaging examinations. Endoscopy plays a crucial role in the diagnosis of stenosis. Endoscopic retrograde cholangiography and endoscopic ultrasonography allow not only to macroscopically evaluate the stenosis, but also to obtain a tissue sample for cytological or histological examination. Given that the majority of patients with tumor stenosis require a definitive diagnosis for their subsequent treatment, histopathological diagnosis is absolutely essential. Cholangioscopy currently provides the most accurate assessment of the nature of the stenosis. The still limited sensitivity of imaging examinations could be increased in the future by artificial intelligence methods.

Dysplastic gangliocytoma of the cerebellum, also known as Lhermitte-Duclos disease (LDD), is a rare lesion of the posterior cranial fossa, classified among glioneuronal and neuronal tumors of the CNS, WHO grade 1. It typically has a characteristic radiological appearance on magnetic resonance imaging in the form of "tiger stripes" on T2-weighted images. In adults, LDD is often associated with Cowden syndrome and PTEN gene mutations. Our case report presents a 51-year-old patient with a somewhat atypical finding on magnetic resonance imaging, where histopathological examination surprisingly revealed dysplastic gangliocytoma of the cerebellum with a PTEN gene mutation, subsequently confirmed to be of germline origin. The patient was then examined for other manifestations of Cowden syndrome and is being followed up in a specialized clinic, with cascade genetic testing also conducted in her family.

Digitalization has gradually made its way into many areas of medicine, including pathology. Along with digital data processing comes the application of artificial intelligence methods to simplify routine processes, enhance safety, etc. Although general awareness of artificial intelligence methods is increasing, it is still not common for professionals from non-technical fields to have a detailed understanding of how such systems work and learn. This text aims to explain the basics of machine learning in an accessible way using examples and illustrations from digital pathology. This is not intended to be a comprehensive overview or an introduction to cutting-edge methods. Instead, we use the simplest models to focus on fundamental concepts behind most learning systems. The text concentrates on decision trees, whose functionality is easy to explain, and basic neural networks, the primary models used in today's artificial intelligence. We also attempt to describe the collaborative process between medical specialists, who provide the data, and computer scientists, who use this data to develop learning systems. This text will help bridge the knowledge gap between medical professionals and computer scientists, contributing to more effective interdisciplinary collaboration.

Neonatal Herpes simplex virus (HSV) infections are rare but potentially fatal diseases. HSV infection is usually acquired when a newborn comes into contact with viable virus during intrapartum transit through infected birth canal. However, some cases are transmitted postnatally. Disseminated HSV infection with multiorgan involvement is the most feared form of the disease and is burdened with high morbidity and mortality. In this case report, we present a case of unexpected death of a neonate in whom the autopsy revealed disseminated Herpes simplex virus 1 (HSV1) infection.

Gene sequencing of 16S, 18S, and ITS regions is a crucial tool in molecular diagnostics, especially in microbiology, pathology and forensic medicine. These genes contain conserved and variable regions and are widely used for the taxonomic classification of bacteria and eukaryotes. Sequencing of 16S rDNA helps detect bacterial infections, while sequencing of ITS regions and 18S rDNA is used to identify fungal or parasitic infections, especially when traditional methods are ineffective. This article focuses on the expanded possibilities of these methods, their application in clinical diagnostics and research, their advantages and disadvantages, and discusses potential future developments in the field of next-generation sequencing (NGS) technology.

Solitary fibrous tumour is a relatively rare soft tissue fibroblastic tumour, accounting for approximately 2% of soft tissue tumours. It has been described primarily as a tumour of the pleural cavity; however, up to 70% of cases occur elsewhere, in any anatomical location, which can make diagnosis difficult. If this is the diagnosis being considered, the STAT6 antibody is currently available with high sensitivity and specificity. In this paper we describe the case of a 72-year-old female patient, followed up and treated by an outpatient endocrinologist for a multinodular euthyroid goitre for several years. Due to complete nodular remodelling of the left lobe of the thyroid gland and sonographic findings of several small nodules in the right lobe of the thyroid gland, total thyroidectomy was recommended to the patient. The operation was performed at the ENT department in Jindřichův Hradec Hospital. Material from the operation was subsequently sent for histopathological examination. Several hyperplastic colloid nodules and a small oncocytic adenoma were detected microscopically in the right lobe of the thyroid gland. In the left lobe, an imprecisely delineated, greyish-white lesion measuring 2 x 1.8 x 1.5 cm was observed on the section. Microscopically, the tumour consisted of spindle-shaped cells in a focally hyalinised stroma. In the immunohistochemical examination, tumour cells reacted positively with the CD34 antibody, and negatively with antibodies against thyroglobulin, cytokeratins (CK AE1/AE3) and S100 protein. Further immunohistochemical examinations (Bcl2, CD99, STAT6) with positive results were supplemented upon consultation at a higher facility. Based on morphology and the results of the immunohistochemical examinations, the tumour was diagnosed as a solitary fibrous tumour of the thyroid gland. This is a relatively unusual finding in this location; according to literature, only a few dozen cases have been described.