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Gaucher disease is an autosomal recessive disease belonging to the so-called storage diseases. More than 300 mutations of the GBA1 gene encoding the β-glucocerebrosidase enzyme are known. It is a very rare disease in the Czech Republic. Currently 35 patients are treated. In our case report, we present the case of a 16 year old female patient attending the Clinic of Pediatric Medicine at the University Hospital in Ostrava. Since 2007, the patient has suffered prolonged thrombocytopenia, at the time with progression, and splenomegaly, which has not been further investigated. Trepanobiopsy was sent to the Department of Pathology with suspicion of myelodysplastic syndrome in May of 2018. In the biopsy examination, the individual bloodline did not show dysplastic features and the number of blasts was not increased. The marrow interstitium was 70% permeated with gaucher cells with intraplasmatic fibrous material. Cells were in the appearance of „crumpled paper“ and expressed CD68 in immunohistochemical stain and in histochemical examination of PAS and iron (Fe) staining. Based on a morphological finding, Gauchers disease was suspected. Repeated bone marrow aspirates were subsequently captured by gaucher cells, and a next biochemical examination showed a β-glucocerebrosidase enzyme decrease of activity. Gaucher disease is a progressive disease that requires early diagnosis with the onset of therapy.

Laser capture microdissection is a relatively young method used both in biomedical sciences as in other studies of animal and vegetable tissues and cells. Current human medicine and its methods of investigation are based on both current established processes, and simultaneously there are new experimental approaches from molecular biology tested. In this context it is highly desirable that the studied tissue is homogenous and representative population of cells. For this purposes at the late 80s the method of laser capture microdissection (LCM) has been developed, the first publication dealing with this method was released even in 1996. In current databases of literature we are able to find hundreds of papers focused on LCM such a method or as a part of methodic approach of experiments whose results led to the improved knowledge of genetic and proteomic nature of various diseases. This knowledge is of great promise for successful targeted therapy in the future.

Currently, the following areas are in the focus of interest in hepatology: study of hepatic stem cells, mechanisms of fibrogenesis and cirrhosis development; mechanisms of the development of steatosis, steatohepatitis and NASH/NAFLD; rejection of liver transplants; diagnosis of autoimmune hepatitis, primary sclerosing cholangitis and primary biliary cirrhosis; diagnosis of hemochromatosis; the importance and relevance of grading and staging of chronic hepatitis. DILI (Drug Induced Liver Injury) is also in the focus of interest. DILI is important because the histology of DILI overlaps almost all areas of liver pathology unrelated to drug injury. Moreover, there is not unified approach to DILI diagnostic and references are almost solely case reports. The diagnosis of DILI is also complicated by lack of information on pharmacological anamnesis of patients, frequent combination of drugs with natural compounds and influence of environmental factors. DILI is a cause of 10% of acute hepatitis and 15 % of liver failures with subsequent transplantation. Hepatotoxicity is also one of the most important reasons for drug withdrawal. This review covers basic informations on classification of hepatotoxic drugs, on the system of liver biopsy assessment when DILI is suspected, and it is an overview of the main histologic pictures of liver biopsy with examples of the most important drugs and differential diagnosis.

The subacute angiohypertrophic myelomalacia Foix-Alajouanine was first described by French authors in 1926 and belongs to the wider category of CNS vascular malformations. Both individual casuistics and larger sets of patients with this disease can be found in literature scarcely. We are presenting three necroptic cases of subacute angiohypertrophic myelomalacia (Foix-Alajouanine) that were mistakenly diagnosed clinically, once as metastatic lesion of spinal canal, once as amyotrophic lateral sclerosis, and once as inflammatory lesion of spinal cord. The histologic finding is dominated by myelomalacia of varying extent with varicosely dilated, constricted or even occluded arterialized both extra- and intramedullary veins, sporadically coupled with secondary thrombi. Clinical diagnostics is difficult and requires spinal angiography. According to literature data, it is presumable that this disease is not as rare as it may seem at first sign.

Mechanisms leading to morphological changes of the small intestine during coeliac disease are not yet completely recognized, however, two main processes have been suggested recently: remodelling of mucosa by matrix metalloproteinases, and mucosal atrophy by apoptosis. The aim of this study was to analyze the expression of proteins regulating apoptosis and some markers of proliferation in the mucosa of the small intestine of children with active (ACD) and latent form (LCD) of coeliac disease (CD). Intestinal biopsies of 43 children with ACD and LCD were analyzed by standard indirect immunohistochemical technique for Fas, Fas ligand (Fas-L), tissue transglutaminase (tTG), Bcl-2, Bid, glutathione S-transferase (GST), CAS 3, CAS 8, PARP, Ki-67, Topoisomerase IIa, PCNA expression. We found significantly lower numbers of Fas-expressing enterocytes in ACD patients than in LCD patients and controls. The number of Fas-positive mucosal lymphocytes was decreased in ACD when compared with LCD. Fas-L expression in enterocytes and mucosal lymphocytes was higher in ACD and LCD compared to controls. We found significantly more Bcl-2 negative lymphocytes in ACD than in LCD and controls. Bid expression in enterocytes was higher in LCD compared to ACD and controls. In intraepithelial lymphocytes, there was higher Bid expression in LCD than in ACD and controls compared to expression in mucosal lymphocytes, where was found higher number of positive cells in controls than in ACD and LCD. Expression of CAS 8 in mucosal lymphocytes was significantly higher in ACD compared to LCD. The expression of tTG in extracellular matrix and basal lamina was significantly higher in LCD and ACD when compared to controls. Expression of tTG was higher in the group of ACD and LCD in the enterocytes and in the lymphocytes. Our findings showed that Fas/Fas-L, Bcl-2, and CAS 8 may be involved in modulation of apoptosis during CD. Increased apoptotic elimination of IEL in LCD can partially explain preservation of the normal villous architecture. Increased tTG expression may be an early sign of increased apoptosis or may be related to its role in CD pathogenesis.

We describe a rare case of solitary metastasis of follicular carcinoma of the thyroid gland into the petroclival region in a 58-year-old woman. The metastasis was the first and only manifestation of the disease. The histology of the tumor, differential diagnosis and clinical course are discussed. In a few similar cases described so far the tumor was always a well or moderately differentiated follicular carcinoma located in the petroclival region. As in this presentation, these cases also clinically mimic a meningioma. The differential diagnosis includes adenoma of the thyroid gland and thyroid gland dystopia. We demonstrated the primary focus of carcinoma within the thyroid after its detailed examination initiated by our finding. The clinical outcome of such rare cases is usually excellent, much better than in metastases of papillary carcinoma into the brain.

The article explains some of the main characteristics of problem-based learning (PBL). Five-year experience with application of PBL in pathology is described. Student appreciation of PBL is complemented by assessment in the literature.

Immunohistochemically assessed p53 expression was correlated with overall survival in 20 patients with glioblastoma multiforme. Various epitopes of p53 molecule were detected using DO-1, DO-7, CM-1 and BP-12-53 antibodies, proliferative activity was estimated using anti-PCNA and anti-Ki-67 antibodies and assessment of glycosylation changes using lectin histochemistry completed the study. The results show a statistically significant correlation between DO-1 binding and survival. However, we failed to find any similar statistically significant relationship using other antibodies used in this study. Nor the intensity of proliferative activity show any correlation with either p53 expression or overall survival. Glycosylation in glioblastoma multiforme cells reflected unspecific changes in tumor cells regardless of any relationship to p53 expression. The findings do not provide clear evidence for the predictive value of p53 expression. On the other hand, relatively larger numbers of p53 immunonegative cases may indicate that other mechanisms are involved in the development of this tumor.

Estrogen receptors (ER), progesterone receptors (PR) and some other estrogen-induced proteins (EIP) were found in the cells of salivary gland carcinomas, thyroid carcinomas, in gliomas and in various farther neoplasms as well as in some normal tissues. The positivity was demonstrated in both females and males. The results indicate that steroid hormones and their receptors could play, both in normal and tumorous tissues, more important biological role than expected so far.