Arkhiv patologii最新文献

The implementation of prostate-specific antigen (PSA) screening over the past decade has led to a significant increase in the number of primary prostate biopsies, thereby imposing a growing workload on pathology departments. Globally, considerable efforts are being directed towards developing artificial intelligence (AI) models capable of assisting pathologists in the morphological diagnosis of prostate cancer (PCa).

Objective: Develop an AI-based model for detecting PCa in biopsy samples and compare its diagnostic performance with pathologists with varying levels of experience.

Material and methods: A training dataset comprising 470 core biopsy specimens of prostate tissue from 86 patients was utilized. The AI model employed a U-Net neural network architecture. For testing, a separate dataset of 282 scanned specimens, not included in model training, was separated in 2 sets - 1 and 2 (with 141 slides in each). This dataset consisted of 81 specimens with non-neoplastic prostate tissue and 201 specimens with adenocarcinoma structures. The study included 20 pathologists with varying levels of experience from 12 medical institutions in the Russian Federation, who evaluated each case on the «PathVision.ai» platform. The diagnostic performance and agreement between the AI model and pathologists were assessed using comparative statistical analysis.

Results: The AI-model demonstrated high diagnostic performance, with sensitivity of 0.99 [95% CI: 0.97-1.00], specificity of 0.93 [95% CI: 0.84-0.97], and accuracy of 0.98 [95% CI: 0.95-0.99] for detecting PCa. These metrics surpassed those of junior pathologists (sensitivity: 0.92 [95% CI: 0.91-0.94]; specificity: 0.89 [95% CI: 0.86-0.91]; accuracy: 0.91 [95% CI: 0.90-0.93]) and were comparable to those of experienced pathologists (sensitivity: 0.93 [95% CI: 0.91-0.95]; specificity: 0.94 [95% CI: 0.91-0.96]; accuracy: 0.94 [95% CI: 0.92-0.95]).

Conclusion: Developed model «PathVision.ai» in pilot study demonstrated high sensitivity, specificity and accuracy in the diagnosis of PCa in biopsy samples.

A clinical case of a patient with adrenal ganglioneuroma with mild pain syndrome is presented. This tumor is more common in young people and develops from cells of the peripheral nervous system, in particular from sympathetic ganglia, as well as from chromaffin cells of the adrenal medulla.

Guillain-Barré syndrome is an acute immune-mediated polyradiculoneuropathy, which is the most common cause of acute paralysis and requires intensive therapy in one third of cases. Considering the fact that the disease is rare and characterized by low mortality, morphological changes in it are described rather modestly, based on isolated examples. The article analyzes literature data and our own observations of Guillain-Barré syndrome, including an analysis of clinical data, treatment, and the nature of structural changes based on routine, histochemical, and immunohistochemical studies.

Knee osteoarthritis is a widespread disease with an insufficiently studied pathogenesis that affects various age groups and leads to progressive disappearance of hyaline cartilage with a severe impairment of function. In some cases, it requires a radical treatment - endoprotestics. Among conservative methods of osteoarthritis treatment intra-articular injections of hyaluronic acid preparations are often used alongside with drug therapy. We present a case of granulomatous osteitis of the proximal tibial epiphysis caused by the injection of hyaluronic acid in a patient with severe osteoarthritis. X-ray examination revealed apparent dystrophic-degenerative changes in the left knee joint and the cancellous bone of the proximal tibial epiphysis in the patient. Macro- and microscopic examination showed absence of articular cartilage on a large area of the joint surface and its partial replacement by fibrous cartilage. Microscopic examination and scanning electron microscopy of the cancellous bone of the left proximal tibial epiphysis revealed fields of homogeneous gel-like, electron-transparent substance with a giant cell reaction to it. We present the first case in Russia of osteitis of the proximal tibial epiphysis due to intra-articular injection of hyaluronic acid in a patient with severe osteoarthritis.

Dysferlinopathy represents an orphan disease within the spectrum of progressive muscular dystrophies, occurring at a frequency of 1 to 9 cases per 1.000.000 individuals (Orphanet, 2024). It arises from mutations in the DYSF gene (OMIM 603009, 2p13, NM_003494.4), which is responsible for coding the transmembrane protein dysferlin. Dysferlin plays a critical role in the repair of muscle fiber membranes and the cellular processes of skeletal muscle regeneration. Although the molecular mechanisms of dysferlin-mediated repair are under active investigation, reports on the ultrastructural alterations in human skeletal muscles due to dysferlin deficiency are sparse.

Objective: To identify the ultrastructural pathomorphological features of skeletal muscles in 6 patients with dysferlinopathy.

Material and methods: This study presents pathomorphological, immunohistochemical, and ultrastructural data from skeletal muscle biopsies of 6 patients with molecularly confirmed dysferlinopathy.

Results: Examination of paraffin-embedded sections of the anterior tibialis and vastus lateralis muscles, stained with hematoxylin and eosin, identified a primarily myopathic pattern of skeletal muscle injury. Immunohistochemical staining with dysferlin antibodies revealed the absence of the protein in muscle tissue compared to the positive control. Transmission electron microscopy has revealed ultrastructural alterations characteristic of dysferlinopathy, although not specific, including thickening and fragmentation of the basal membrane, thinning and lysis of myofibrils, folding and disruptions of the sarcolemma, destruction of mitochondria, and, newly described in this disease, necrosis of myosatellite cells and telocytes in skeletal muscles.

Conclusion: Despite the non-specificity of the identified ultrastructural alterations, electron microscopy of skeletal muscle biopsies in dysferlinopathy can provide additional information about the mechanisms underlying the disease development. The finding of myosatellite cell and telocyte necrosis indicates the impairment of skeletal muscle regenerative capacity, which may be a novel link in the pathogenesis of dysferlinopathy.

Objective: To evaluate and compare morphometric and histotopographic characteristics of megakaryocytic lineage in preparations stained with H&E or antibodies to CD42b in diagnostic trepanobioptates of bone marrow of patients with primary myelofibrosis and essential thrombocythemia with JAK2 or CALR mutation. Analyze the dimensions and quantity of CD42b-positive megakaryocytes in 1 mm² area of section and assess suitability of these parameters as an additional differential pathomorphological criterion.

Material and methods: 108 trephine biopsies of the bone marrow from patients with primary myelofibrosis (N=53) and essential thrombocythemia (N=55) with JAK2 or CALR mutation were selected. Digitized bone marrow slides stained with H&E or antibodies to CD42b (clone EP409) were the object of study. In every sample the average values of perimeter and area of megakaryocytes were analyzed, as well as the average number of megakaryocytes in 1 mm² area of myeloid tissue section. Logistic regression analysis was used to describe the relationship between CD42b-positive megakaryocyte characteristics and disease (primary myelofibrosis or essential thrombocythemia).

Results: Immunohistochemical examination of bone marrow biopsy specimens using antibodies to CD42b in comparison with H&E staining allows to multiply the number of identifiable megakaryocytes in myeloid tissue by 3.5-4 times (p<0.0001). Statistically significant differences in the mean values of the number of megakaryocytes in 1 mm² of the section area and megakaryocyte perimeter in patients with primary myelofibrosis and essential thrombocythemia have been demonstrated. ROC analysis (AUC=0.84, 95% CI 0.7782-0.9199) justifies the inclusion of the average perimeter size of CD42b-positive megakaryocytes and their number in 1 mm² of the section area in the differential diagnostic panel as an additional pathomorphological criterion.

Conclusion: The revealed statistically significant differences in quantitative and geometric characteristics of megakaryocytes allowed to calculate differential threshold values of characteristics of megakaryocytic lineage of myeloid tissue in diagnostic trepanobioptates of bone marrow from patients with primary myelofibrosis and essential thrombocythemia. Counting the number of CD42b-positive megakaryocytes in one field of view at a magnification of 400 times was proposed as an additional pathomorphological differential-diagnostic sign.

Plexiform fibromyxoma (PFM) and gastroblastoma (GB) are rare gastric tumors with a specific MALAT1::GLI1 rearrangement, included in the conditional spectrum of neoplasms with alterations of the GLI1 gene. The article presents a clinical case of PFM in a 6-year-old girl and a literature review highlighting current data on the morphology, immunophenotype and molecular genetic characteristics of PFM and GB. Despite the common genetic anomaly, differences in the morphology and clinical course of these tumors indicate the need for further research to clarify their relationship and potential reclassification in the light of new data on tumors with GLI1 gene abnormalities. Integrating the accumulated knowledge about tumors with GLI1 gene alterations into diagnostic algorithms and therapeutic approaches will help improve the treatment outcomes of patients with these rare neoplasms.

Solitary fibrous tumor is a rare mesenchymal neoplasm, the most common localization of which is the pleural cavity, but the tumor can also affect other organs. This neoplasm with localisation in the kidney was first described only in 1996. Solitary fibrous tumor accounts for 0.2% of all kidney neoplasms and is an exceptional phenomenon. Currently, there is no generally accepted theory explaining the etiology and pathogenesis, probably, its development is a multifactorial process including a combination of genetic, epigenetic and external factors. Despite the lack of unambiguous opinion on the nature of the neoplasm, the spectrum of molecular abnormalities in this tumor has been sufficiently studied. The literature presents a limited number of publications devoted to this pathology, in this regard it should be noted that in routine practice, the morphological picture may not always be so unambiguous and require the pathologist to conduct differential diagnostics with a fairly wide range of tumors. Given the rarity of this disease, we would like to share a description of our own clinical observation demonstrating the possible difficulties of morphology diagnostics.

One of the main prognostic factors for meningioma recurrence is histological diagnosis with an assessment of tumor grade. Despite this, there are no clear microscopic criteria for recurrence prognosis in benign forms, and there is no common understanding of meningioma recurrence and continued growth clinical management.

Objective: To evaluate neuroimaging, microscopic features and proliferative activity in meningioma recurrence and continued growth.

Material and methods: Histological and immunohistochemical studies of tumor biopsies were performed in 16 patients with tumor progression who underwent surgery for recurrence and continued growth of intracranial meningiomas; the comparison group included 10 patients with newly diagnosed intracranial meningioma. All patients were performed pathomorphological and radiological examination assessment.

Results: The average tumor volume in the meningioma progression group was 48.88±14.32 cm³; the average tumor volume was higher in the primary surgical treatment group - 51.51±14.48 cm³. Recurrent tumors were characterized by more pronounced cellular and tissue atypia, patterns of infiltrative growth with the involvement of large vessels. The meningioma proliferative activity, assessed by Ki-67(max) expression, was higher in the group with meningioma progression and amounted to 9.71±2.5%. Significant differences in the Ki-67 expression were noted by tumor localization, grade, and brain invasion (p<0.05) in the meningioma recurrence and continued growth group.

Conclusion: Recurrent meningiomas are represented by different grade tumors, including benign typical meningioma (grade 1), which indicates the need for greater attention and patient follow-up with this pathology. There are differences in terms of grade progression and locally destructive growth in meningioma recurrence and continued growth. This indicates a more pronounced biological tumor aggression. The Ki-67 expression is an important prognostic factor in meningioma progression group.

The pathogenesis of diseases associated with amyloid deposition in various organs and tissues has been a concern for researchers and clinicians since their discovery. Particular attention is paid to the relationship between amyloidogenesis and neurotrophic disorders in age-related neurodegenerative pathology. In this context, the amyloid cascade theory and the neurotrophic dysfunction theory remain relevant, as evidenced by the results of numerous studies conducted in recent years. Meanwhile, it has been shown that amyloidosis, being a systemic pathological process, affects ocular tissues and extraocular structures in various forms with diverse clinical and morphological manifestations. This highlights the need for improved diagnostics of ocular amyloidosis and the study of its association with geriatric ophthalmic diseases such as age-related macular degeneration (AMD), senile cataract, primary open-angle glaucoma, and pseudoexfoliation syndrome. Accumulating evidence suggests that both amyloidogenesis and neurotrophic disturbances share common triggers and mutually contribute to the development of neurodegenerative pathology in both AMD and Alzheimer's disease (AD). Therapeutic strategies aimed not only at suppressing amyloidogenesis and correcting neurotrophic dysfunction but also at the overall regulation of these two pathogenic mechanisms may have a positive effect on geriatric ophthalmic diseases and AD, significantly improving the quality of life of elderly patients. This article summarizes current concepts on the role of neurotrophic dysfunction and amyloidogenic processes in the development of AMD.