Ceskoslovenska patologie最新文献

Molecular testing of tumor tissue for the detection of somatic aberrations using NGS is increasingly gaining significance in routine practice. The technical aspects of testing are standardized and currently do not pose a problem. However, the situation is evolving very rapidly regarding the indication of testing, which depends on the sometimes rapidly developing medical knowledge and needs in clinical practice. In order to implement NGS testing in practice and arrange its reimbursement by the health care system, first it is necessary to reach an agreement on the level of professional societies concerning the definition of priority and medically clearly justified areas in which molecular testing has a clear impact on therapeutical choices. The next step is to reach an agreement with the health insurance companies regarding NGS testing. The aim of this article is to provide an overview of the issue of routine tumor tissue testing using the NGS method covered by public health insurance, with a summary of the current situation in the Czech Republic. Only the testing of somatic aberrations in solid tumors performed at pathology departments is discussed. The issue of testing in haemato-oncological centres is not the subject of this review.

Examination of changes in the methylation profile of DNA in cancer is currently used to determine the diagnosis or prognostic and predictive biomarkers. It complements histological or molecular biological examinations. At the same time, it helps to identify new diagnostic groups and subgroups. Currently, this diagnosis is most common in brain tumors, where it has become a routine examination. The established methylation profile may help even where the diagnosis or subgroup classification of the disease cannot be determined in any other way, as is the case with medulloblastoma.

Umbilical cord hemangioma is a rare tumor that can be associated with significant fetal and perinatal complications. Although usually described as a single anomaly, sometimes these tumors are reported in association with other vascular lesions. We report an unusual case of simultaneous occurrence of two umbilical cord hemangiomas and vascular malformation of the transverse mesocolon in a stillborn fetus with hydrops. To our knowledge, this is the first report of two simultaneously occurring umbilical cord hemangiomas. Moreover, presence of associated vascular malformation of transverse mesocolon could support the hypothesis of underlying predisposition to the development of vascular tumors.

Symplastic haemangioma is a rare vascular tumor presented with regressive and degenerative atypia in stromal cells. Its morphology represents a challenge in classification of vascular tumors, regarding their biological behaviour in particular. We present a case report of a 47-years-old female with a history of left-sided breast adenocarcinoma treated by resection followed by adjuvant chemotherapy and radiotherapy. Three years after the primary diagnosis a tumorous mass appeared in the region of upper margin of left scapula, in subcutaneous tissues and the trapezius muscle. Histologically, the tumor was formed by multiple blood vessels of varied diameter and wall thickness. Endothelial lining was bland, without atypia; thromboses were observed in vascular spaces. In the interstitium, a population of spindle and pleomorphic cells with distinctive atypia and bizarre nuclei was found. These cells showed positivity in immunohistochemical expression of smooth muscle actin, further extensive immunohistochemistry including cytokeratines was negative. Mitoses were absent, proliferating activity was minimal. Signs of infiltrative growth pattern were not found and the tumor lacked hallmarks of malignant behaviour. A diagnosis of symplastic haemangioma was established. Above mentioned atypical stromal cells show myofibroblastic and sporadically smooth muscle differentiation. Their atypical appearence is associated with degenerative alterations similar to changes in leiomyomas with bizarre nuclei or ancient schwannomas. Etiopathogenesis of these changes is not clear, there are hypotheses considering long-lasting persistence of the lesion, regression of ischaemic or postinflammatory origin, or, like in our case, postirradiative degeneration. Differential diagnosis of symplastic haemangioma is widespred and contains many histological entities of variant histogenesis and biological potential. For proper classification, an extensive investigation including immunohistochemistry, clinical and anamnestic data and imaging methods is necessary.

Iatrogenic hydrophilic polymer embolization (HPE) is an underrecognised complication of endovascular procedures. In certain instances, HPE and related complications may lead to patiens death. Incidence of this phenomenon is not known. We evaluated retrospectively all autopsies of patients with a history of endovascular intervention performed by one pathology resident during a period of 8 months. There were 10 cases, which were examined histochemically and in polarized light.  We detected HPE in 2 of the 10 cases. In both cases the involved organ were lungs. Hydrophilic polymer embolization is a potential and easy-to-miss complication of endovascular procedures. It must be considered during histological examination of autoptic material.

Giant cell myocarditis (GCM) is a rare inflammatory disease of the heart that often affects younger patients. The clinical course is typically rapid with fulminant congestive heart failure. Prognosis is poor; the proper diagnosis is often rendered at the autopsy. Herein, we present a prototypical case of this rare type of myocarditis, affecting a 44-year-old previously healthy woman who was referred to the intensive care department due to an acute onset cardiac arrest followed by resuscitation. The heart ultrasound and imaging examinations revealed a severe dysfunction and dilatation of both ventricles, without any significant finding in the coronary arteries. Twelve days after the initial presentation, the patient died due to congestive heart failure refractory to intensive therapy. The post-mortem histology of the heart revealed multiple small necrotic foci in the myocardium in both ventricles, with dense inflammatory infiltration with abundant multinucleated giant histiocytes, in line with a diagnosis of GCM. The natural history, pathophysiology, and histological differential diagnosis is discussed, together with review of the relevant literature including uncommon and emerging units.

Hereditary tumor syndromes with a possible manifestation in the female internal genital tract represent a heterogeneous group of diseases. The two most common entities are the hereditary breast and ovarian cancer syndrome, and the Lynch syndrome. The less common syndromes include the rhabdoid tumor predisposition syndrome, Cowden syndrome, tuberous sclerosis complex, DICER1 syndrome, nevoid basal cell carcinoma syndrome, Peutz-Jeghers syndrome, von Hippel-Lindau disease, and hereditary leiomyomatosis and renal cell cancer syndrome. The goal of this manuscript is to provide a comprehensive overview of those hereditary tumor syndromes which can manifest in the area of the female genital system, with an emphasis on their summary, the characteristics of the tumors which can develop in association with these syndromes, and the approach to the processing of prophylactically removed tissues and organs. The issue of Lynch syndrome screening is also discussed.

Neuromuscular diseases (NMDs) are a clinically and genetically heterogeneous group of diseases. Currently, 608 genes associated with different types of NMD have been identified. Most of these diseases are rare with a very low prevalence. Advance in the identification of genes associated with NMD can be attributed to technological development in an area of next generation sequencing (NGS) and the affordability of this methodical approach. NGS applications can be divided into analysis of (a) a selected set of genes, (b) an exom, and (c) a genome. The identification of pathogenic variants leads to a significant shift in the understanding of the etiopathogenesis of the disease, allows the prediction of the course of the disease, or its targeted treatment, which may be specific for individual types of NMD or even for particular pathogenic sequence variants.

Evaluation of tumor infiltrating lymphocytes (TIL) is gaining importance in many cancers not only because of their prognostic, but also predictive significance. One of the tumors in which the evaluation of TIL is of prognostic importance and has potential predictive impact on the modification of treatment procedures is breast cancer, especially its so-called triple negative, and HER2 positive variants.The aim of this review is to provide an overview of the issue of TIL evaluation in breast cancer, focusing not only on the clinical significance of this evaluation, but especially on the methodological aspects of evaluation and standardized reporting of the results.

The authors present results of our center retrospective study comparing autopsy findings from years 1929 (n=275) and 1989 (n=974). The male to female ratio was very similar in both cohorts (1.3:1 in 1929 and 1.4:1 in 1989). The age range in 1929 was 0-88 years with median of 50 years, whereas in 1989, the age range was 0-98 year and median was 65 years. Among lethal diseases in 1929 were namely infections and infectious complications - 61 % of all patients (out of these, 18 % were tuberculosis cases), neoplasms (12 %) and cardiovascular disorders (6.5 %). In 1989, malignant neoplasms were most frequent (31 %), followed by cardiovascular disorders (21 %) and infections (4.6 % - out of these, tuberculosis represented only 0.6 %). Our study is unique by comparing two well documented autopsy cohorts in a single center from two years being 60 years apart. The study clearly demonstrates dramatic changes in healthcare achieved during the 20th century.