Arkhiv patologii最新文献

{"title":"[Clinical and morphological characteristics of Ewing's sarcoma and the algorithm for diagnosing undifferentiated round cell sarcomas].","authors":"I V Sidorov,&nbsp;A S Fedorova,&nbsp;A S Sharlai,&nbsp;D M Konovalov","doi":"10.17116/patol20238505113","DOIUrl":"10.17116/patol20238505113","url":null,"abstract":"<p><strong>Background: </strong>The group of undifferentiated round cell sarcomas, according to the World Health Organization Classification, in addition to Ewing's sarcoma (ES), includes round cell sarcoma with rearrangement of the <i>EWSR1</i> gene with partners not from the ETS gene family, sarcoma with <i>BCOR</i> gene alterations, <i>CIC</i> -rearranged sarcoma. Despite the fact that all tumors have clear histological and immunological criteria, their diagnosis can be difficult, given the fact that there are overlapping variants of the morphological picture and immunophenotype both within the group and with other round cell tumors.</p><p><strong>Objective: </strong>Present a comparative analysis of genetically verified ES, sarcoma with <i>BCOR</i> gene alterations and <i>CIC</i>-rearranged sarcoma.</p><p><strong>Material and methods: </strong>A comparative study of biopsy specimens of bones, soft tissues and internal organs was carried out in 118 patients with ES, 10 with <i>BCOR</i> gene alterations and 8 with <i>CIC-</i>rearranged sarcomas. All cases were genetically verified. The following research methods were used: histological, immunohistochemical, RT-PCR, RNA sequencing and FISH.</p><p><strong>Results: </strong>Within our cohort, it was shown that ES predominantly affects bones, while soft tissue localization is more typical for the other two undifferentiated round cell sarcomas. Histologically, in the overwhelming majority of cases, ES is characterized by a monomorphic round-cell structure; on the contrary, heterogeneous structure is typical for sarcoma with alterations of the <i>BCOR</i> gene, <i>CIC</i>-rearranged sarcoma. High sensitivity and specificity of CD99/NKX2.2 co-expression for ES, BCOR/SATB2/TLE1 for sarcoma with <i>BCOR</i> gene alterations, high specificity and low sensitivity of WT1/ETV4 co-expression for <i>CIC</i>-rearranged sarcoma was shown.</p><p><strong>Conclusion: </strong>For the differential diagnosis of undifferentiated round-cell sarcomas, it is necessary to take into account the clinical, morphology when compared with the data of the IHC study, and verification by molecular genetic methods is necessary to improve the accuracy of diagnosis.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 5","pages":"13-21"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41181922","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":"[Varicose veins of the esophagus as a manifestation of left-sided portal hypertension].","authors":"S A Povzun","doi":"10.17116/patol20238505145","DOIUrl":"10.17116/patol20238505145","url":null,"abstract":"<p><p>An autopsy of pancreatic cancer in a woman who died from acute posthemorrhagic anemia due to repeated bleeding from esophageal varices is presented. The mechanism of development of esophageal varices associated with the so-called left-sided portal hypertension, caused by compression of the splenic vein by the tumor and the opening of porto-caval anastomoses, is considered. A brief review discusses other possible causes of left-sided portal hypertension syndrome and its consequences.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 5","pages":"45-47"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41181934","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 structure of pathogenic germline variants in colorectal cancer in Moscow patients].","authors":"A B Semenova, M M Byakhova, M V Makarova, V N Galkin, M V Nemtsova, D K Chernevskiy, A M Danishevich, V G Shatalov, A V Babkina, N G Popova, S M Gadzhieva","doi":"10.17116/patol20238506116","DOIUrl":"10.17116/patol20238506116","url":null,"abstract":"OBJECTIVE Describe the structure of pathogenic germline variants and clinical and anatomical features in colorectal cancer patients in Moscow. MATERIAL AND METHODS The whole genome sequencing results of patients with suspected hereditary cancer syndrome were evaluated. All identified genetic variants were validated using Sanger sequencing. RESULTS The study included 238 patients with colorectal cancer, 41/238 (17.2%) patients have pathogenic germline variants associated with hereditary cancer syndromes or increased cancer risk. Lynch syndrome accounts for 8% of all colorectal cancer cases (19/238), and familial adenomatous polyposis - 1.7% (4/238). 5 new genetic variants were described for the first time in a Russian colorectal cancer patients: MLH1 c.1921dup (p.Leu641fs), APC c.2929C>T (p.Gln977Ter), PMS2 c.327del (p.Ala110LeufsTer2), MSH2 c.1857dup (p. Val620CysfsTer24), ATM c.895G>T (p.Glu299Ter). In 197 of 238 patients, no significant variants were identified or variants with an uncertain clinical underlying cause were identified. CONCLUSION According to the results of the study, an earlier manifestation of a malignant neoplasm and a more frequent occurrence of high-grade carcinomas in the presence of pathogenic germline mutations were noted compared to the group of patients without clinically significant varianrs, while in the group with identified mutations, the frequency of regional and distant metastasis was not increased.","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 6","pages":"16-25"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138443686","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":"[Study of FGFR2 status in gastric cancer by immunohistochemistry and fluorescent in situ hybridization].","authors":"G A Raskin,&nbsp;M S Mukhina,&nbsp;E D Kravtsova,&nbsp;I V Tsimafeyeu,&nbsp;S A Tyulandin,&nbsp;N P Belyak,&nbsp;M A Kleshchev,&nbsp;R V Orlova","doi":"10.17116/patol20238503140","DOIUrl":"https://doi.org/10.17116/patol20238503140","url":null,"abstract":"<p><strong>Background: </strong>Assessment of FGFR2 status in gastric cancer is an important task, without clarification of which it is impossible to identify a cohort of patients in whom the best response to treatment with anti-FGFR2 drugs could be obtained.</p><p><strong>Objective: </strong>To conduct a comparative analysis of the expression and amplification of the <i>FGFR2</i> gene in gastric cancer in primary tumors and metastases in the lymph nodes.</p><p><strong>Material and methods: </strong>FGFR2 status was studied in 61 patients with stage III gastric adenocarcinoma using an immunohistochemical method (Abcam clone EPR24075-418, R&D clone 98706, Santa Cruz clone C-8, Abcam clone 1G3) and FISH.</p><p><strong>Results: </strong>The antibody Abcam clone EPR24075-418 was found satisfactory for the immunohistochemical study of FGFR2. FGFR2 expression was detected in 26 (43%) cases, amplification in 5 (8%) cases. Amplification of <i>FGFR2</i> in 4 cases out of 5 was accompanied by the expression of 3+, in 1 case - 2+. Discordance between FGFR2 expression in primary tumor and lymph node metastases was revealed in 13 (21%) cases.</p><p><strong>Conclusion: </strong>Clone EPR24075-418 showed the best result in assessing the expression of FGFR2: the correlation with FISH results in reaction 3+ was 100%. Due to the high heterogeneity of FGFR2 expression, it is recommended to either examine the material of the primary tumor and metastasis, or evaluate a large volume of the primary tumor.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 3","pages":"40-45"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9577853","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 use of digital radiography in the morphological evaluation of tumor response to neoadjuvant treatment of breast cancer].","authors":"I M Telezhnikova,&nbsp;L G Zhukova,&nbsp;S G Khomeriki,&nbsp;A B Abduraimov,&nbsp;N A Maksimov,&nbsp;G R Setdikova","doi":"10.17116/patol20238503146","DOIUrl":"https://doi.org/10.17116/patol20238503146","url":null,"abstract":"<p><strong>Objective: </strong>To optimize the morphological assessment of tumor response to neoadjuvant therapy in breast cancer.</p><p><strong>Material and methods: </strong>A retro- and prospective cohort study was conducted. The object of the study was the surgical material. Macroscopic parameters of residual tumor without and with the use of digital radiography (digital X-Ray) are described and analyzed. PathVision Faxitron imaging system was used for digital X-ray samples. An analysis of dynamics of clinical characteristics was carried out. Two methods of tumor bed examination were compared.</p><p><strong>Results and discussion: </strong>The study cohort included 32 women, mean age 45.5±14 years. The correlation of the results of instrumental methods was 0.66 ([95% CI: 0.28; 1], <i>p</i>=0.0002). Microcalcinates were detected by digital X-Ray in 29 (90.6%) cases. Tumor bed sizes determined macroscopically (mean maximal size 6.1 (3.3) cm, median 5.2 (3.4-8.0) cm) and by using digital X-ray (mean maximal size 4.8 (2.6) cm, median 4.1 (2.7-6.2) cm), had statistically significant differences (<i>p</i><0.0001). The agreement between the two methods of studying the tumor bed was 96.9%. The Cohen's kappa value was 0.95 (<i>p</i><0.0001).</p><p><strong>Conclusion: </strong>Morphological study is an integral part of clinical trials of drug efficacy. With the help of digital X-Ray, the identification of metal markers placed in the tumor bed and microcalcinates is facilitated by the morphologist, and the visibility of the boundaries of the tumor bed is also improved. The results obtained showed that the use of digital X-Ray can improve the accuracy of assessing the degree of morphological regression of breast cancer in response to treatment.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 3","pages":"46-53"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9577856","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":"[Report on holding the IV Congress of Uzbekistan Pathologists with international participation, dedicated to the 90th anniversary of academician Malika Samatovna Abdullahodjaeva birth].","authors":"","doi":"10.17116/patol20238502166","DOIUrl":"https://doi.org/10.17116/patol20238502166","url":null,"abstract":"<p><p>Report on holding the IV Congress of Uzbekistan Pathologists with international participation, dedicated to the 90th anniversary of academician Malika Samatovna Abdullahodjaeva birth.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 2","pages":"66-67"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9664912","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":"[Characteristics of PIK3CA gene mutations in Her2-low breast cancer].","authors":"I A Pavlenko,&nbsp;P E Povilaitite,&nbsp;N S Makarevich,&nbsp;V Yu Kaciyaev,&nbsp;A V Petrov","doi":"10.17116/patol2023850415","DOIUrl":"https://doi.org/10.17116/patol2023850415","url":null,"abstract":"BACKGROUND Mutations in the PIK3CA gene, encoding the catalytic subunit of the PI3K class IA p110α, is a common mechanism of activating of PI3K/AKT/mTOR pathway in breast cancer (BC). The detection of these mutations in patients with hormone-positive Her2-negative BC is of important clinical value, since they are the predictor of the sensitivity of the tumor to the PI3K inhibitor - alpelisib. According to the status of the Her2/neu expression, all patients with hormone-positive Her2-negative BC can be divided into two groups - with low expression of Her2/neu (IHC 1+; 2+, ISH-) and with a complete lack of expression of this protein (IHC 0). OBJECTIVE Establish whether there are differences of the PIK3CA gene mutations charasteristics in BC with luminal immunophenotype and low expression of Her2/neu in comparison with tumors in which Her2/neu expression is absent. MATERIAL AND METHODS The presence of PIK3CA mutations was determined using real-time PCR on 96 patient tissues of hormone-positive Her2-negative BC. Commercially available cobas PIK3CA Mutation Kit (Roche) and cobas z480 analyzer were used. RESULTS PIK3CA gene mutations were detected in 40 of 96 cases studied (41.6%). Most of them were localized in the exons 9 and 20, encoding helicase (p.E542K, p.E545X) or kinase (p.H1047X) domains of PI3K, respectively. The frequency of mutations in the exon 9 (p.E542K+p.E545X) was 2.6 times higher in Her2-low BC compared to tumors in which the Her2/neu expression was absent (p<0.05). There were no statistically significant differences in mutation frequency in the exon 20. CONCLUSION Statistically significant increase in the frequency of exon 9 mutations of the PIK3CA gene is specific for the group of patients with Her2-low BC. Our results supported the concept of Her2-low BCs as the unique entity and pointed out the need of their further study.","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 4","pages":"5-11"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9926800","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":"[External quality control of immunohistochemical studies in pathomorphology: tasks, problems, solutions, development prospects].","authors":"L É Zavalishina,&nbsp;A I Vasilyeva,&nbsp;O A Kuznetsova,&nbsp;K A Skrypnikova,&nbsp;G A Frank","doi":"10.17116/patol20238502148","DOIUrl":"https://doi.org/10.17116/patol20238502148","url":null,"abstract":"<p><p>In 2022, the Quality Control Center for Immunohistochemical Studies of the Russian Medical Academy of Continuing Professional Education conducted 12 rounds of markers for breast, lung, prostate, bladder cancer with the participation of 83 laboratories. For the first time, a round was held to control the method of <i>in situ</i> hybridization in the diagnosis of breast cancer, and a digital round. Typical problems in carrying out immunohistochemical studies in oncomorphology have been identified and the importance of participation of laboratories in external control has been shown.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 2","pages":"48-52"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9364110","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":"[Pathoanatomical algorithm for differential diagnosis of Paget's disease of the breast].","authors":"M V Mnikhovich,&nbsp;A V Romanov,&nbsp;T V Bezuglova,&nbsp;S N Zorin,&nbsp;K V Bun'kov","doi":"10.17116/patol20238502132","DOIUrl":"https://doi.org/10.17116/patol20238502132","url":null,"abstract":"<p><p>Paget's disease of the breast is a rare type of cancer that affects the skin of the nipple and usually the areola. At the same time, most patients also have one or more tumors in the immediate vicinity of the focus of mammary Paget's disease. This tumor must be distinguished from normal or atypical Toker cells, and also differentiated from diseases such as Bowen's disease of the nipple and melanocytic lesions of the nipple and areola region, including nipple melanoma and BAP1-inactivated nevus (Wiesner nevus). Currently, there is no routine pathological diagnostic algorithm for these conditions. The aim of the work is to formulate a clear clinical and morphological algorithm for diagnosing Paget's disease of the breast and Toker cells, Bowen's disease of the nipple and areola, as well as melanoma and BAP1-inactivated nevi of the above localizations. Surgical material obtained from patients with Paget's disease of the breast (18), Toker cells of the nipple (2), Bowen's disease of the nipple (6), melanoma of the nipple (1), BAP1-inactivated nevus (1) was studied. The material was examined histologically with hematoxylin and eosin staining, Alcian blue and PAS reaction, as well as immunohistochemically with the following panel of antibodies: CD138, p53, CK8, CK7, HER2/neu, EMA, HMB-45, Melan A, S-100, p63, p16 and BAP1. An easy-to-learn pathoanatomical algorithm for diagnosing Paget's cancer has been developed, which will be especially useful for pathologists who encounter pathology of the nipple and areola in their work.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 2","pages":"32-39"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9364113","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":"[Clinical and morphological characteristics of the atypical placentation spectrum in the uterus].","authors":"A P Milovanov,&nbsp;N V Nizyaeva,&nbsp;T V Fokina,&nbsp;N B Tikhonova,&nbsp;I A Kulikov,&nbsp;R G Shmakov","doi":"10.17116/patol20238502113","DOIUrl":"https://doi.org/10.17116/patol20238502113","url":null,"abstract":"<p><strong>Background: </strong>The concern of the global community of gynecologists and obstetricians (FIGO) regarding the increase in the number of caesarean sections has resulted in the creation of a new classification, Placenta Accreta Spectrum (PAS), which presents degrees of villus invasion into the uterine wall.</p><p><strong>Objective: </strong>Compare the main types of atypical placentation (AP) with the stages of PAS, to supplement and unify the clinical and morphological criteria AP.</p><p><strong>Material and methods: </strong>Surgical material was examined from 73 women after metroplasty (<i>n</i>=61) and hysterectomies (<i>n</i>=12) from the regions of Russia, Moscow and the Moscow region for ingrown villi and from 10 women with a typical placenta location during the first cesarean section. A targeted cutting of material from the uteroplacental region was used, at least 10-12 pieces, with further H&E and Mallory staining.</p><p><strong>Results: </strong>In the classification of AP, the terms «placenta accreta», «increta», «percreta» should be retained. It is necessary to single out pl. previa as a separate type. Attention is focused on the need to assess the depth of villi invasion accompanied by a layer of fibrinoid, the volume of scar tissue and the degree of disorganization of the myometrial bundles, the state of the vessels in the serous membrane. A new type of AP has been proposed - a sharp thinning of the lower segment of the uterus, due to the scar failure and the pressure of the growing amniotic sac, leading to atrophy and necrosis of the myometrium.</p><p><strong>Conclusion: </strong>An integrated approach should be used to classify atypical placentation, taking into account not only the depth of villus invasion, but also anatomical and pathogenic factors in order to develop targeted methods of surgical treatment.</p>","PeriodicalId":8548,"journal":{"name":"Arkhiv patologii","volume":"85 2","pages":"13-20"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9679031","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}