Arkhiv patologii最新文献

{"title":"[DDAH1 protein: biological functions, role in carcinogenesis processes].","authors":"E A Prosekina, V A Shapkina, A E Karpov, E Yu Fedorutseva, A S Artemyeva","doi":"10.17116/patol20258701160","DOIUrl":"10.17116/patol20258701160","url":null,"abstract":"<p><p>Dimethylarginine Dimethylaminohydrolase 1 (DDAH1) is an essential enzyme capable of degrading asymmetric dimethylarginine, which is an endogenous inhibitor of nitric oxide synthase. Increased expression of DDAH1 and subsequent increased NO production are associated with carcinogenesis. In particular, DDAH1 is involved in the creation of a vascular network by tumor cells, vasculogenic mimicry, which is closely associated with tumor progression and poor patient prognosis. This is the reason why DDAH1 may be a potential therapeutic target for the treatment of cancer.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 1","pages":"60-67"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405534","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":"[Sex cord tumor with annular tubules].","authors":"A S Badlaeva, A V Tregubova, R B Matronitskii, A P Raksha, V V Sukhoparova, N L Lysova, A V Asaturova","doi":"10.17116/patol20258701148","DOIUrl":"10.17116/patol20258701148","url":null,"abstract":"<p><p>Sex cord tumor with annular tubules is a rare type of ovarian tumor, which seems to arise from Sertoli cells. Most tumors are associated with Peutz<i>-</i>Jeghers syndrome and have a benign course and favorable prognosis; however, about 20% of sporadic sex cord tumors with annular tubules have a high risk of developing metastases. We present a case report about 18-year-old patient who presented with irregular menstruation and abdominal pain. Based on the histological features and immunohistochemical results, the diagnosis of a sex cord tumor with annular tubules was confirmed. The above-described ovarian tumor is rare in childhood and adolescence compared to the general population, which, combined with nonspecific clinical manifestations, can result certain diagnostic difficulties in this age group of patients.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 1","pages":"48-52"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405557","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":"[Comparative analysis of EGFR gene mutations (exon 20) in sinonasal papillomas of inverted and oncocytic types].","authors":"A A Bakhtin, N A Dykhes, O V Karneeva, E L Tumanova, A A Kazakov, V V Demkin, O A Sapegina","doi":"10.17116/patol20258701116","DOIUrl":"10.17116/patol20258701116","url":null,"abstract":"<p><p>Sinonasal papillomas are a group of benign, relatively rare tumors of the sinonasal tract with varying clinical courses. In the modern WHO classification, it is customary to distinguish three subtypes of sinonasal papillomas: the most common inverted type (ISP), oncocytic type (OSP) and exophytic type (ESP). Recently, the concept has emerged that the different types of sinonasal papillomas may not be variants of a single tumor, but rather separate tumors. Thus, OSP demonstrates <i>KRAS</i> mutations, and the pathogenesis of ISP is associated with <i>EGFR</i> mutations.</p><p><strong>Objective: </strong>To provide a comparative description of the <i>EGFR</i> gene (exon 20) based on the results of Sanger sequencing in sinonasal papillomas of inverted and oncocytic types.</p><p><strong>Material and methods: </strong>Sanger sequencing of the <i>EGFR</i> gene (exon 20) was performed in 83 cases of sinonasal papillomas, of which 17 were of OSP and 66 were ISP cases. In 20 cases, an additional immunohistochemical study with an antibody to EGFR was also performed.</p><p><strong>Results: </strong>When sequencing by Sanger of exon 20 of the <i>EGFR</i> gene in the ISP group, missense mutations were identified in 16 out of 66 cases, leading to a change in the value of the coding sequence of the gene, ultimately determining the formation of a different amino acid; this type of mutation was not identified in the OSP group. The most common mutation was at position 2622 in the form of G to A transition: in 47 cases of ISP (70%) and in 12 cases of OSP (71%). This mutation was synonymous and did not lead to an amino acid replacement in the synthesized protein. Thus, we did not find any significant differences in exon 20 of the EGFR gene between the ISP and OSP groups. In the ISP group, in 48 of 66 cases, multiple and single point mutations were noted, which we characterize as genetic heterogeneity.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 1","pages":"16-21"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405572","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":"[Post-Covid aortitis with cardiac involvement: progressive aortic aneurysm combined with active myocarditis].","authors":"O V Blagova, P O Savina, E A Kogan","doi":"10.17116/patol20258702153","DOIUrl":"https://doi.org/10.17116/patol20258702153","url":null,"abstract":"<p><p>The new coronavirus infection is characterized not only by pronounced cytokine and autoimmune reactions in the acute period, but is also an inducer of a whole spectrum of chronic immunoinflammatory conditions, which differ in varying degrees of specificity from general manifestations of the so-called post-COVID syndrome to single-organ diseases (including myocarditis) and nosologically defined systemic autoimmune diseases and vasculitis. Isolated post-COVID aortitis is one of the rarest complications of SARS-CoV-2 infection. We present a clinical observation of a patient with myocarditis and aortitis simultaneously developing 1 month after COVID-19 with damage to the infrarenal section and formation of an aortic aneurysm. Myocarditis was verified by MRI, manifested by severe dysfunction of the left ventricle with a drop in the ejection fraction to 30% and was of an autoimmune nature (a 4-fold increase in the titers of anticardiac antibodies was revealed). At the same time, MSCT revealed an aortic aneurysm with thickening of its walls. Therapy with medium doses of corticosteroids resulted in clinical remission of myocarditis, but progression of the aortic aneurysm required surgical treatment. The diagnosis of chronic immune inflammation associated with SARS-CoV-2 was morphologically confirmed (nucleocapsid and spike proteins of the virus were detected in macrophages, lymphocytes of infiltrates and endothelium of microvessels). The combination of post-COVID myocarditis and chronic aortitis has not been described previously. The issues of pathogenesis, diagnostics, and nosological nature of combined immune-inflammatory damage to the heart and blood vessels after a new coronavirus infection are discussed.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"53-58"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952742","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":"[Eosinophilic cells associated with BRAF mutation in borderline serous ovarian tumors].","authors":"A S Badlaeva, A V Tregubova, A A Udina, A V Asaturova","doi":"10.17116/patol20258702118","DOIUrl":"https://doi.org/10.17116/patol20258702118","url":null,"abstract":"<p><strong>Objective: </strong>To define the diagnostic value of eosinophilic cells for the detection of <i>BRAF</i>-mutated serous borderline ovarian tumors.</p><p><strong>Material and methods: </strong>The study included 42 cases of serous borderline ovarian tumor, each of which was analyzed by 3 pathologists for the presence of eosinophilic cells. Genetic profiling using Sanger sequencing was performed to identify the <i>BRAF</i>^V600E mutation. Comparisons between two groups were performed using the Mann-Whitney test, Fisher's exact test. Fleiss's kappa was used to assess the interobserver agreement. To assess the diagnostic value of eosinophilic cells, sensitivity and specificity were assessed.</p><p><strong>Results: </strong>According to the results of a genetic study, the <i>BRAF</i>^V600Emutation was found in 19 of 42 tumors. When analyzing interobserver agreement, the Fleiss's kappa values allowed us to determine the reliability of the test as sufficient (ϰ=0.7). The sensitivity and specificity for predicting <i>BRAF</i>^V600Emutation for eosinophilic cells were 78.9% and 91.3%, respectively. Patients with the <i>BRAF</i>^V600E mutation were significantly younger than patients without it. Thus, the average age of patients in the group with the <i>BRAF</i>^V600E mutation was 33.6±15.6 years, while in the group of tumors without the mutation the average age of patients was 43.9±12.7 years (<i>p</i>=0.002). Non-invasive implants were less frequently found in tumors with the <i>BRAF</i>^V600E mutation compared to tumors without the mutation: 11.76% (2/17) versus 33.3% (6/18), respectively, but these differences were not statistically significant (<i>p</i>=0.228).</p><p><strong>Conclusion: </strong>Eosinophilic cells in ovarian serous borderline tumors may sufficiently reflect the <i>BRAF</i>^V600E mutation, thereby correlating with disease prognosis (low risk of progression to low-grade serous carcinoma).</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"18-23"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963634","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":"[Quality control of immunohistochemical studies: compulsory duty or urgent need?]","authors":"L E Zavalishina, Yu Yu Andreeva, A A Barinov, I Yu Vinogradov, S V Vtorushin, I A Demidova, O A Kuznetsova, E M Olyushina, S V Petrov, G A Raskin, N A Savelov, K A Skripnikova, G A Frank","doi":"10.17116/patol20258702143","DOIUrl":"https://doi.org/10.17116/patol20258702143","url":null,"abstract":"<p><p>Immunohistochemical study is an integral component of modern morphologic diagnostics, providing accurate marker detection and identification of molecular subtypes of malignant neoplasms. A quality control system is fundamental in the aspect of standardizing laboratory protocols, ensuring reproducibility of results and increasing the reliability of diagnostic conclusions.</p><p><strong>Objective: </strong>To conduct a comprehensive assessment of the quality of immunohistochemical studies at the successive stages of the laboratory process (pre-analytical, analytical, post-analytical) in medical organizations that are participants of the external quality control program of the IHC Quality Control Center of Russian Medical Academy of Continuous Professional Education for 2024.</p><p><strong>Material and methods: </strong>The present study analyzed the results of external quality control rounds initiated by the Quality Control Center. The nature and frequency of errors at all stages of immunohistochemical study, including procedures for fixation of biological material, methodology of immunohistochemical staining, and interpretation of the results obtained were evaluated. Analytical evaluation was carried out by experts in accordance with the criteria of international standards (CAP, NordiQC).</p><p><strong>Results: </strong>The analysis of the pre-analytical stage revealed methodological inconsistencies related to the processes of fixation of biological material, to the degree of DNA degradation and to the qualitative characteristics of histologic processing. At the analytical stage, the main errors were inadequate selection of antibodies and detection systems, and insufficient validation of diagnostic protocols.</p><p><p>The postanalytic phase was characterized by a predominance of factors of incorrect conclusions, including errors in interpretation of HER2 status and molecular genetic subtypes of breast carcinoma. Repeated rounds of follow-up demonstrate that implementation of expert recommendations contributes to statistically significant improvements in diagnostic quality.</p><p><strong>Conclusion: </strong>The system of external quality control of immunohistochemical studies represents a key tool to optimize the accuracy and reproducibility of morphological diagnostics. Systematic participation of laboratories in control programs, standardization of methodological approaches and improvement of professional qualification of specialists ensure minimization of diagnostic errors and increase of clinical significance of research results.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"43-52"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967183","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":"[Infectious diseases of the respiratory system in Irkutsk in 2023 according to autopsy data].","authors":"V V Svistunov, A E Makarova","doi":"10.17116/patol20258702137","DOIUrl":"https://doi.org/10.17116/patol20258702137","url":null,"abstract":"<p><strong>Objective: </strong>To characterize infectious diseases of the respiratory system in Irkutsk based on autopsy data for 2023.</p><p><strong>Material and methods: </strong>The results of 1166 autopsies of those who died in multidisciplinary hospitals in Irkutsk in 2023 were analyzed. The data of macro- and microscopic, immunohistochemical, bacterioscopic, microbiological studies, and PCR were evaluated.</p><p><strong>Results: </strong>The total number of deaths from infectious diseases of the respiratory system was 683 - 59% of the total number of autopsies. Of these, acute pneumonia, including secondary, was 557 (48%). The etiology of secondary pneumonia is in most cases associated with <i>Klebsiella pneumoniae</i>, including in various combinations with other pathogens. The largest number of registered secondary pneumonias occurred during the period of increased incidence of acute respiratory viral infections and influenza. Among those who died from tuberculosis, HIV-infected individuals predominated; in 67% of cases, the etiology of the disease was associated with the Beijing genotype.</p><p><strong>Conclusions: </strong>Infectious diseases of the respiratory system remain one of the most pressing problems in medicine, and acute secondary pneumonia is the most common complication and the most common cause of death of patients in somatic hospitals in Irkutsk.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"37-42"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061957","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 effect of acetylamide synthetic peptide HLDF-6 on cell differentiation in breast cancer].","authors":"A A Studenikina, E D Mangazeeva, A P Bogachuk, V M Lipkin, A I Autenshlyus","doi":"10.17116/patol2025870215","DOIUrl":"https://doi.org/10.17116/patol2025870215","url":null,"abstract":"<p><p>The development of drugs with the ability to increase differentiation and reduce tumor malignancy is one of the promising directions in the treatment of breast cancer (BC). As such, Human Leukemia Differentiation Factor (HLDF), a protein consisting of 54 amino acids and contributing to an increase in the degree of differentiation of invasive ductal breast carcinoma cells, can be used. The key disadvantage of the full-size HLDF is its rapid biodegradation. In this connection, the acetylamide form of the peptide (HLDF-6) was synthesized to protect against hydrolysis.</p><p><strong>Objective: </strong>To evaluate the effect of HLDF-6 on cell differentiation in various molecular biological subtypes of breast cancer.</p><p><strong>Material and methods: </strong>The relative content of tumor cells of various degrees of differentiation in biopsies of 33 women with breast cancer when exposed to HLDF-6 tumor was evaluated.</p><p><strong>Results: </strong>HLDF-6 significantly increases the relative content of differentiated cells in the luminal B HER2-negative subtype of breast cancer, without significantly affecting the cells of patients with luminal A and basal-like subtypes.</p><p><strong>Conclusion: </strong>The study revealed the prospects of using HLDF-6 as part of differentiating therapy in patients with luminal B HER2-negative subtype of breast cancer.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"5-10"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967842","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":"[Morphological markers of mitochondrial dysfunction of the basal plate cytotrophoblast of the placenta in preeclampsia of varying severity].","authors":"Z S Khizrieva, L V Kulida, I A Panova","doi":"10.17116/patol20258702124","DOIUrl":"https://doi.org/10.17116/patol20258702124","url":null,"abstract":"<p><p>Pathomorphological changes in preeclampsia develop in all elements of the functional system \"mother-placenta-fetus\" and play a leading role in the course and outcome of pregnancy.</p><p><strong>Objective: </strong>To identify morphological markers of mitochondrial dysfunction of the basal plate cytotrophoblast of the placenta in women with preeclampsia of varying severity.</p><p><strong>Material and methods: </strong>Comprehensive morphological examination of placentas from women with uncomplicated pregnancy (30), moderate (30) and severe (30) preeclampsia included overview histology, morphometry, immunohistochemistry and transmission electron microscopy.</p><p><strong>Results: </strong>Regardless of the severity of preeclampsia, a leading place in the pathomorphological change in the placenta is occupied by a violation of uteroplacental circulation due to a violation of cytotrophoblast invasion. Immunohistochemical parameters of mitochondrial dysfunction of cytotrophoblast cells of the basal lamina have been determined. A significant decrease in the expression of mtDNA transcription and replication proteins (TFAM, POLG) and a violation of the structure of the respiratory chain (NADH+, cytochrome C) were revealed. These changes were combined with ultrastructural rearrangement of mitochondria, which are the basis of ATP synthesis. In moderate preeclampsia, a decrease in the number of mitochondria was revealed, the ratio of oval and rounded forms of mitochondria associated with swelling of the central parts of the crist changes. In severe preeclampsia, the structural basis of the connection of energy metabolism between mitochondria and the granular endoplasmic reticulum is interrupted. The progressive destruction of mitochondrial crysts with the formation of pseudovesicles ends with total necrosis of ultrastructures.</p><p><strong>Conclusion: </strong>In pregnant women with preeclampsia, mitochondrial dysfunction of the cytotrophoblast cells of the basal lamina was diagnosed, characterized by a decrease in the expression of mtDNA transcription and replication proteins in combination with a violation of the I-III enzymatic complexes of the respiratory chain. The identified immunohistochemical markers are pathogenetically associated with ultrastructural rearrangement of mitochondria in preeclampsia of varying severity.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 2","pages":"24-29"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959864","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":"[Neuroendocrine tumor of the extrahepatic bile ducts. Case report and literature review].","authors":"D E Suraev, S O Zagagov, N A Savelov, A A Ajazova, D Yu Kanner, O V Paklina","doi":"10.17116/patol20258701141","DOIUrl":"10.17116/patol20258701141","url":null,"abstract":"<p><p>Neuroendocrine neoplasms (NENs) are heterogeneous tumors with a common phenotype. There are two fundamentally different groups of NENs: well differentiated with a low proliferative index, called neuroendocrine tumors (NETs) and poorly differentiated with a high proliferative index, called neuroendocrine carcinoma (NEC). Extrahepatic bile duct NETs (EBNETs) account for 0.2% to 2% of all gastrointestinal NETs and up to 2% of all malignant neoplasms of the extrahepatic bile ducts. To date, 114 cases of EBNETs have been described, with disease-free survival ranging from 2 to 240 months. In most cases, the tumors expressed Chromogranin A, Synaptophysin, CD56, and NSE. This report presents a rare case of an EBNET in a 61-year-old patient following resection of the extrahepatic bile ducts. The description includes data from radiological and ultrasound diagnostic methods, macro- and microscopic characteristics of the tumor, and immunohistochemical profile.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"87 1","pages":"41-47"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405494","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}