Arkhiv patologii最新文献

{"title":"[Ultrastructural changes of skeletal muscle tissue of patients with dysferlinopathy].","authors":"I A Chekmareva, S N Bardakov, I S Limaev, A M Emelin, R V Deev","doi":"10.17116/patol20258701128","DOIUrl":"10.17116/patol20258701128","url":null,"abstract":"<p><p>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 <i>DYSF</i> 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.</p><p><strong>Objective: </strong>To identify the ultrastructural pathomorphological features of skeletal muscles in 6 patients with dysferlinopathy.</p><p><strong>Material and methods: </strong>This study presents pathomorphological, immunohistochemical, and ultrastructural data from skeletal muscle biopsies of 6 patients with molecularly confirmed dysferlinopathy.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 1","pages":"28-36"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Aseptic osteitis of the tibia after intraarticular injection of hyaluronic acid in a patient with knee osteoarthritis].","authors":"G K Eshmotova, A A Semina, A V Korshunov, D A Kobzarev, A I Semenov, A P Bonartsev, A Yu Zarov, L V Kaktursky, A V Volkov","doi":"10.17116/patol20258702169","DOIUrl":"https://doi.org/10.17116/patol20258702169","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"69-72"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Prognostic significance and comparison of methods for calculating tumor budding in gastric cancer].","authors":"T V Polushkina, T N Sotnikova, N V Danilova","doi":"10.17116/patol20258703117","DOIUrl":"https://doi.org/10.17116/patol20258703117","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the degree of tumor budding by three methods in gastric cancer and to study its relationship with clinical and morphological characteristics and its impact on overall survival. Choose the best way to determine the tumor budding in gastric cancer.</p><p><strong>Material and methods: </strong>In the surgical material from 172 patients with verified gastric cancer of the tubular histological subtype, tumor budding was identified and counted using three methods: H. Ueno, L. Wang, E. Karamitopolou. Histological samples stained with H&E, as well as using antibodies to the immunohistochemical marker PanCK, were studied. The calculation was carried out in the zone of maximum budding \"hot spot\" with an assessment of 5-10 visual fields and a choice of the average value. The results of calculating the tumor budding were compared with the main clinical and morphological characteristics of gastric cancer using statistical analysis. Overall survival data were obtained for 144 patients.</p><p><strong>Results: </strong>The degree of tumor budding determined by any of the methods is significantly associated with the macroscopic form according to the classification of R. Bormann (<i>p</i>=0.023/p=0.047/<i>p</i>=0.039), morphological type according to the classification of P. Lauren (<i>p</i>=0.001/<i>p</i>=0.000/<i>p</i>=0.001), the presence/absence of signet-ring cells (<i>p</i>=0.008/<i>p</i>=0.008/<i>p</i>=0.017), with the differentiation level (<i>p</i>=0.000/<i>p</i>=0.000/<i>p</i>=0.001), with the presence/absence of tumor emboli in the vascular lumen (<i>p</i>=0.020/<i>p</i>=0.022/<i>p</i>=0.019), TNM classification parameters and the clinical stage of the oncological process (<i>p</i>=0.000/<i>p</i>=0.000/<i>p</i>=0.000). With an increase of tumor budding, the risk of death increases in 1.77/2.12/1.81 the time (<i>p</i>=0.03/<i>p</i>=0.01/<i>p</i>=0.02) set by any of the methods.</p><p><strong>Conclusion: </strong>When using any of the methods for assessing the degree of tumor budding, it has been shown that it is a strong negative prognostic factor in stomach cancer. Although the L. Wang method has the greatest negative predictive value (RR=2.12), we believe that the H. Ueno method should be used, since it is the least labor-intensive.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 3","pages":"17-25"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Solitary fibrous tumor of common bile duct: case report and literature review].","authors":"D E Suraev, M V Moskalets, S A Sokolov, A A Chankina, N A Savelov, D Yu Kanner, O V Paklina","doi":"10.17116/patol20258703171","DOIUrl":"https://doi.org/10.17116/patol20258703171","url":null,"abstract":"<p><p>Solitary fibrous tumor (SFT) is a rare mesenchymal tumor. SFT was first described by Klemperer and Rabin in 1931. They described a fibrous tumor of the pleura. Currently, isolated cases of SFT of the gallbladder and common bile duct have been described in the world. SFT is characterized by nuclear expression of STAT6 and the formation of chimeric genes <i>NAB2-STAT6</i>. A case report of a rare SFT of the common bile duct in a 66-year-old patient is presented. The description contains data from radiation and ultrasound diagnostic methods, macro- and microscopic characteristics of the tumor and immunohistochemical characteristics.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 3","pages":"71-76"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Solitary fibrous tumor of the kidney].","authors":"S V Vtorushin, Z A Yurmazov, D M Loos, N V Vasilyev, N V Krakhmal","doi":"10.17116/patol20258703177","DOIUrl":"https://doi.org/10.17116/patol20258703177","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 3","pages":"77-81"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Extragenital endometriosis without a glandular component with damage to the diaphragm and pleura].","authors":"Z D Shtanev, N B Paramonova, N V Kovyazina, E E Shchelokova","doi":"10.17116/patol20258702159","DOIUrl":"https://doi.org/10.17116/patol20258702159","url":null,"abstract":"<p><p>Endometriosis continues to be a significant problem for women of childbearing age, with between 6 and 10 percent of women suffering from this condition. Despite its high prevalence, the diagnosis of endometriosis can be difficult due to its different localization and morphological characteristics. This article presents a case of endometriosis affecting the diaphragm and pleura, without a glandular component. The immunohistochemical examination was instrumental in confirming the diagnosis.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"59-63"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Placenta increta into the scar in combination with high-grade squamous intraepithelial lesion of the cervix].","authors":"L V Tsoy, M O Kutusheva, I V Barinova, N B Paramonova, Yu V Lerner, V A Varshavskiy, T A Demura","doi":"10.17116/patol20258702164","DOIUrl":"https://doi.org/10.17116/patol20258702164","url":null,"abstract":"<p><p>Placenta increta is a pathological condition characterized by an invasion of placental tissue into the myometrium. The placenta doesn't detach naturally after delivery and cannot be separated without pathological hemorrhage. Previous cesarean section represents the main risk factor for the occurrence of placenta accreta. Pregnancy-related tissue changes complicate the identification of co-existing diseases of the cervix and uterine body. This case report discusses the characteristics and diagnostic methods of placenta increta in combination with cervical high-grade intraepithelial neoplasia in a 35-year-old female patient.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"64-68"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Another sight at Gastric Cancer Molecular Classification: novel subtypes based on expression of CDX-2, E-cadherin, Epstein-Barr virus RNAs, MMR proteins].","authors":"N V Danilova, Yu Yu Andreeva, V M Khomyakov, A V Chaika, D V Kalinin, E E Porubayeva, P G Malkov","doi":"10.17116/patol20258703149","DOIUrl":"https://doi.org/10.17116/patol20258703149","url":null,"abstract":"<p><strong>Objective: </strong>This study explores the immunohistochemical and prognostic characteristics of gastric cancer (GC).</p><p><strong>Material and methods: </strong>The research analyzed surgical samples from 310 GC patients who had not received chemotherapy or radiotherapy prior to surgery. Each sample was immunohistochemically stained for 23 markers (MSH2, MSH6, MLH1, PMS2, MUC2, CDX2, MUC5AC, CD10, E-cadherin, β-catenin, Claudin-1, Claudin-3, Claudin-4, CD44, p53, PD-L1 (SP142), PD-L1 (SP236), HER2, CD4, CD8, CD68, CD1a, LMP-1), and in situ hybridization for Epstein-Barr virus RNA (EBER) was also conducted.</p><p><strong>Results: </strong>The analysis led to the development of a molecular classification of gastric cancer, comprising five molecular subtypes: MMR-deficient, EBER-positive, E-cadherin aberrant, CDX2-positive, and CDX2-negative. The CDX2-positive subtype occurs in 49.7% of GC cases; it includes papillary and mucinous GC with less depth of invasion, no lymph node involvement, and lower clinical stage and has a relatively favorable prognosis (median survival 47 months). The CDX2-negative subtype occurs in 16.1% of GC cases; it includes tumors of diffuse and intermediate type by P. Lauren, primarily located distally in the stomach, with a greater depth of invasion and a higher clinical stage. The CDX2-negative subtype is characterized by positive expression of MUC5AC and unfavorable prognosis (median survival 23 months).</p><p><strong>Conclusion: </strong>A new five-tier molecular classification of gastric cancer has been developed. Two of the five subtypes have been identified and characterized for the first time. The identified subtypes have promising implications for the targeted therapy of gastric malignancies.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 3","pages":"49-61"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Prognostic value of molecular markers IDO1, DCLK1 and FOXC1 in Triple-negative breast cancer: morphological and clinical correlations].","authors":"N V Krakhmal, M I Taranenko, S S Naumov, S V Vtorushin","doi":"10.17116/patol20258703188","DOIUrl":"https://doi.org/10.17116/patol20258703188","url":null,"abstract":"<p><p>Breast cancer (BC) with triple-negative molecular profile is characterized by special and rather serious problems in terms of clinical management of patients compared to other types. On the one hand this is due to the fact that tumors with such a status often do not respond to routine targeted therapy and only a minimal number of drugs are currently available for their treatment. On the other hand, cases of triple-negative BC (TNBC) are often diagnosed against the background of an extensive metastatic process, in which confirmation of the metastases histogenesis to breast tissue is a difficult task due to the low sensitivity of such carcinomas to specific organ markers. It is known that about 40-50% of all TNBC cases are characterized by the achievement of complete pathomorphological regression of the primary tumor as a result of neoadjuvant chemotherapy courses, which determines a favorable prognosis of the disease. In other cases (also up to 50%), TNBC do not respond to chemotherapy and exhibit persistent drug resistance, such tumors are more aggressive, have the highest relapse rate and a high risk of metastasis. For this group of patients, the issue of finding predictive markers and new therapeutic methods remains unresolved. The presented literature review reflects the data of the analysis of publicly available results of scientific studies devoted to potentially promising molecular markers, including IDO1, DCLK1 and FOXC1, their significance in BC, including TNBC is described. Based on the analysis of literary data, it can be argued that IDO1, DCLK1 and FOXC1 are promising objects for further research in the context of TNBC. Each marker has unique characteristics that make them important both for disease prognosis and for the development of new therapeutic approaches.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 3","pages":"88-96"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The phenomenon of tumor budding in gastric cancer].","authors":"T M Polushkina, E E Porubaeva, N V Danilova","doi":"10.17116/patol20258702179","DOIUrl":"https://doi.org/10.17116/patol20258702179","url":null,"abstract":"<p><p>Gastric cancer remains the fifth most common malignant neoplasm in the world and ranks fifth among the causes associated with cancer. The TNM system remains the gold standard for predictive stratification of patients with gastric cancer, but the search for new sensitive, specific and reproducible biomarkers to develop a personalized approach to the management of patients with gastric cancer does not lose its relevance. The phenomenon of tumor budding is a well-established independent prognostic factor in colorectal cancer. In 2017, the first guideline on the method of calculating tumor budding for colorectal cancer was published. Despite the promising potential of using tumor budding in gastric cancer this parameter is still not evaluated in everyday practice. This lection provides data on various methods of counting tumor budding in gastric carcinomas, describes the molecular mechanisms of interaction between tumor cells and the immune microenvironment, and summarizes the available data on the relationship of clinical and morphological characteristics of gastric cancer with the degree of tumor budding. The relationship between the degree of tumor budding and the prognostic characteristics of gastric cancer and the prospects for its use is also described.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"79-87"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}