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Molecular diagnosis of complete and partial hydatidiform moles. 完全和部分葡萄胎的分子诊断。
Ceskoslovenska patologie Pub Date : 2023-01-01
Martina Putzová, Šárka Hadravská, Magdaléna Daumová
{"title":"Molecular diagnosis of complete and partial hydatidiform moles.","authors":"Martina Putzová,&nbsp;Šárka Hadravská,&nbsp;Magdaléna Daumová","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Complete and partial hydatidiform moles are abnormal products of conception that can be identified by clinical, ultrasonographic, morphologic, histologic, and genetic methods. The diagnosis is usually confirmed only by histological examination. However, accurate diagnosis based on morphological criteria is difficult and some studies have shown that misclassifications are common, even when analysed by highly experienced pathologists. Misdiagnosis may mean that women are either not included in adequate β-hCG follow-up with the risk that the hydatidiform mole progresses to choriocarcinoma or, conversely, are included in follow-up unnecessarily. A reliable complementary method to pathological interpretation may be genetic analysis of the conceptus to eliminate the diagnostic dilemma by distinguishing non-molar spontaneous abortions from hydatidiform moles and defining the type of hydatidiform mole. The aim of our short paper is to introduce the routine molecular analysis used in our laboratory to a wider range of clinical pathologists.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 2","pages":"64-67"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9841908","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}
引用次数: 0
Tall cell carcinoma of the breast with reversed polarity - a report of three cases with a review of the literature. 极性颠倒的乳腺高细胞癌--三例病例报告及文献综述。
Ceskoslovenska patologie Pub Date : 2023-01-01
Karol Kajo, Mojmír Ducár, Ján Dzuracký, Katarína Kajová Macháleková, Miroslava Vallová, Csaba Biró, Lukáš Šebest, Tomáš Slamka, Regína Behulová Lohajová, Pavol Žúbor
{"title":"Tall cell carcinoma of the breast with reversed polarity - a report of three cases with a review of the literature.","authors":"Karol Kajo, Mojmír Ducár, Ján Dzuracký, Katarína Kajová Macháleková, Miroslava Vallová, Csaba Biró, Lukáš Šebest, Tomáš Slamka, Regína Behulová Lohajová, Pavol Žúbor","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Tall cell carcinoma with reverse polarity (TCCRP) is a rare special type of breast epithelial neoplasm presented by columnar cells with opposite nuclear polarity, solid and solid-papillary architecture, and frequent IDH2 gene alterations. Hereby, the authors present three cases of TCCRP in women aged 56, 66 and 67 years with maximum tumour sizes of 29 mm, 10 mm and 8 mm. Tumours showed histomorphological characteristics of TCCRP supported by immunohistochemical profile of tumour cells, in which positive expression of CK7, CK5/6, GCDFP15, mammaglobin, GATA3 and calretinin and negativity of CK14, p63, TTF1, thyroglobulin and neuroendocrine markers were demonstrated. Two tumours were triple negative, and in one tumour, only weak focal ER expression was noted along with PR and HER2 negativity. Pathogenic somatic variants in mutational hotspot region p.R172 in IDH2 gene were detected using NGS technology in all three tumours. Moreover, in two of these tumours, the most common pathogenic variants p.E545A and p.H1047R of PIK3CA were identified. TCCRP represents a rare breast neoplasm of low malignant potential, the incidence of which will probably increase due to the more clearly defined histomorphological, immunohistochemical and molecular-genetic characteristics, which were all responsible for including this entity into the 5th edition of WHO classification breast tumours.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 3","pages":"132-138"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140956385","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}
引用次数: 0
Hydatidiform mole. 葡萄胎。
Ceskoslovenska patologie Pub Date : 2023-01-01
Magdaléna Daumová, Šárka Hadravská, Martina Putzová
{"title":"Hydatidiform mole.","authors":"Magdaléna Daumová,&nbsp;Šárka Hadravská,&nbsp;Martina Putzová","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Hydatidiform mole is the most common form of gestational trophoblastic disease. It is an abnormally formed placental tissue with characteristic changes in karyotype, arising in fertilization disorders. The presence of abundant paternal genetic information plays a key role in the pathogenesis of complete and partial hydatidiform moles. These lesions are characterized by a relatively wide spectrum of morphological changes that may not be fully expressed, especially in the early stages of pregnancy. In addition, some changes can be observed in non-molar gravidities, which, unlike hydatidiform moles, lack any risk of malignant transformation. Although conventional histological examination still plays a key role in the diagnosis, it should be supplemented by other methods that reliably differentiate individual lesions. Accurate diagnosis of molar gravidities is important not only for determining the correct therapeutic approach, but the obtained data may also contribute to further research of these pathological entities.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 2","pages":"50-54"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9847651","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}
引用次数: 0
Mitral valve rheumatoid nodule complicated by infective endocarditis. 二尖瓣类风湿性结节并发感染性心内膜炎。
Ceskoslovenska patologie Pub Date : 2023-01-01
Monika Manethová, Václav Stejskal, Ivo Šteiner, Jiří Soukup
{"title":"Mitral valve rheumatoid nodule complicated by infective endocarditis.","authors":"Monika Manethová,&nbsp;Václav Stejskal,&nbsp;Ivo Šteiner,&nbsp;Jiří Soukup","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a case of a 73-year-old male with rheumatoid arthritis presenting with acute abdominal and back pain and rapidly developing multiorgan failure. A positive blood culture (Staphylococcus aureus, Candida species) followed by transoesophageal sonography established a diagnosis of mitral valve infective endocarditis. At the autopsy, the heart examination revealed fibrinous pericarditis and multiple small vegetations on the mitral valve. The mitral valve itself showed no significant damage. Surprisingly, the histological examination of the mitral valve showed granulomatous inflammation with central fibrinoid necrosis and peripheral palisade of histiocytes, with occasional giant cells and lymphocytic inflammatory infiltrate - findings consistent with a rheumatoid nodule. Infective vegetations were overlying the nodule. Due to its relative frequency, a possibility of cardiac involvement by rheumatoid arthritis and its potential infective complications should be considered in patients with appropriate history and clinical symptoms.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 3","pages":"129-131"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41110006","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}
引用次数: 0
Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period. 胎儿和婴儿骨骼发育不良:综合回顾和我们10年来的经验。
Ceskoslovenska patologie Pub Date : 2023-01-01
Marta Ježová, Denisa Pavlovská, Ilga Grochová, Andrea Michenková, Pavel Vlašín
{"title":"Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.","authors":"Marta Ježová,&nbsp;Denisa Pavlovská,&nbsp;Ilga Grochová,&nbsp;Andrea Michenková,&nbsp;Pavel Vlašín","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period. Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease).</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 2","pages":"68-79"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9834643","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}
引用次数: 0
Spontaneous abortion in the first trimester of pregnancy. 自然流产妊娠头三个月的自然流产
Ceskoslovenska patologie Pub Date : 2023-01-01
Magdaléna Daumová, Šárka Hadravská, Martina Putzová
{"title":"Spontaneous abortion in the first trimester of pregnancy.","authors":"Magdaléna Daumová,&nbsp;Šárka Hadravská,&nbsp;Martina Putzová","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Spontaneous abortions in the first trimester of gravidity represent a clinically significant problem that can affect up to 15% of recognized pregnancies. The causes of early pregnancy loss are very heterogeneous and include genetic, environmental and immunological factors. Although the pathologist's main task is to exclude molar pregnancy, in some cases conventional histological examination can also contribute to the elucidation of the cause of miscarriage and the management of subsequent pregnancies, especially in the case of lesions with a high risk of recurrence that may lead to habitual abortion.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 2","pages":"60-63"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9841909","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}
引用次数: 0
Stevens-Johnson syndrome and toxic epidermal necrolysis from pathologist's point of view. 史蒂文斯-约翰逊综合征与病理学家认为的中毒性表皮坏死松解症。
Ceskoslovenska patologie Pub Date : 2023-01-01
Eva Sticová, Jitka Kyclová, Miroslav Důra, Jiří Štork, Břetislav Lipový
{"title":"Stevens-Johnson syndrome and toxic epidermal necrolysis from pathologist's point of view.","authors":"Eva Sticová,&nbsp;Jitka Kyclová,&nbsp;Miroslav Důra,&nbsp;Jiří Štork,&nbsp;Břetislav Lipový","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Stevens-Johnson syndrome and toxic epidermal necrolysis (Lyell syndrome) are rare diseases characterized by rapid blistering followed by extensive skin and mucosal exfoliation and constitutional symptoms. In most cases, drugs are the main triggers, but the etiopathogenesis of the diseases is not fully understood. Lyell syndrome is associated with a high mortality rate, reported to be around 35%. Therefore, early diagnosis requiring close interdisciplinary cooperation is essential. The diagnosis based on the clinical picture and a detailed pharmacological history should be confirmed by histopathological examination of the skin specimen, including analysis by direct immunofluorescence.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 3","pages":"124-128"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41116703","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}
引用次数: 0
A case report: Acute kidney injury with progression to chronicity in an eldery woman. 一例报告:急性肾损伤进展为慢性在一个老年妇女。
Ceskoslovenska patologie Pub Date : 2023-01-01
Olga Snížková, Karolína Krátká, Martin Havrda, Ivan Rychlík, Mayara Elisa Knížek Bonatto, Eva Honsová
{"title":"A case report: Acute kidney injury with progression to chronicity in an eldery woman.","authors":"Olga Snížková,&nbsp;Karolína Krátká,&nbsp;Martin Havrda,&nbsp;Ivan Rychlík,&nbsp;Mayara Elisa Knížek Bonatto,&nbsp;Eva Honsová","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Acute renal failure in elderly patients can be caused by a wide spectrum of diseases that usually have a cause outside the kidney. The most common causes include renal impairment as part of ANCA vasculitis, another category includes clonal plasmatic cell disease with light chain cast nephropathy; and there also exists an increasing number of drug-induced tubulointerstial damage. We present a case of iatrogenic less common form of acute failure in a 73-year-old woman, who did not suffer from any serious disease until then. Although the biopsy helped to determine the cause of the failure and thus affect subsequent therapy, the function did not return to the previous state and the patient progressed to CKD G3bA1 with serum creatinine values of around 170-140 μmol/l.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 2","pages":"80-84"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9834642","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}
引用次数: 0
Diagnostic Pitfalls in Dermatopathology. 皮肤病学的诊断缺陷。
Ceskoslovenska patologie Pub Date : 2023-01-01
Miroslav Důra, Jiří Štork, Andrea Felšöová, Eva Sticová
{"title":"Diagnostic Pitfalls in Dermatopathology.","authors":"Miroslav Důra,&nbsp;Jiří Štork,&nbsp;Andrea Felšöová,&nbsp;Eva Sticová","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Dermatopathology is a distinct part of pathology revealing the rich association with soft tissue pathology and hematopathology. Regarding the number and diversity of the skin disorders, dermatopathology is a broad specialty encompassing hundreds of diseases. The diagnostics in dermatopathology contains a range of specific features. The article summarizes several practically important pitfalls in dermatopathology. The adequate timing and locality selection for proper sampling are emphasized. The influence of the topical therapy on the histopathological picture is debated. The frequently used surgical procedures in the skin biopsy are presented. The most frequent incidental findings and artifacts in cutaneous pathology are discussed. Problematics of the alopecia examination and direct immunofluorescence are added. Clinical-pathological correlation performed by the pathologist, and subsequently by the dermatologist, is the essential step in the diagnostic process. The knowledge transcending to the other specialty and reciprocal communication are prerequisite for the right diagnosis.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 3","pages":"96-103"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41102279","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}
引用次数: 0
Warthin-like papillary carcinoma: Case report. 沃辛样乳头状癌1例。
Ceskoslovenska patologie Pub Date : 2023-01-01
Jana Jakešová, Roman Boháč, Jan Betlach
{"title":"Warthin-like papillary carcinoma: Case report.","authors":"Jana Jakešová,&nbsp;Roman Boháč,&nbsp;Jan Betlach","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Warthin-like papillary thyroid carcinoma is a rare variant of papillary carcinoma with a very good prognosis. It is often associated with lymphocytic thyroiditis. Due to its typical histological picture resembling Warthin's salivary gland tumor, the histological diagnosis is not difficult, usually does not require an accompanying immunohistochemical examination and is based on the presence of nuclear features typical of papillary carcinoma and the presence of oncocytes in a background of rich lymphocyte infiltrate. The preoperative cytologic examination is challenging, as many other lesions may have a similar picture. Women are more likely to get affected. It appears a decade earlier than the classic variant. Clinically, it presents similarly to a conventional papillary carcinoma. In our case report, we would like to present the case of a 56-year-old woman with non-toxic multinodular goiter, in whom the presence of this rare variant of papillary carcinoma was revealed by histological examination.</p>","PeriodicalId":9861,"journal":{"name":"Ceskoslovenska patologie","volume":"59 1","pages":"23-25"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9424774","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}
引用次数: 0
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