Focal cortical dysplasia (FCD) represents a heterogeneous group of morphological changes in the brain tissue that can predispose the development of pharmacoresistant epilepsy (recurring, unprovoked seizures which cannot be managed with medications). This group of neurological disorders affects not only the cerebral cortex but also the subjacent white matter. This work reviews the literature describing the morphological substrate of pharmacoresistant epilepsy. All illustrations presented in this study are obtained from brain biopsies from refractory epilepsy patients investigated by the authors. Regarding classification, there are three main FCD types, all of which involve cortical dyslamination. The 2022 revision of the International League Against Epilepsy (ILAE) FCD classification includes new histologically defined pathological entities: mild malformation of cortical development (mMCD), mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy (MOGHE), and “no FCD on histopathology”. Although the pathomorphological characteristics of the various forms of focal cortical dysplasias are well known, their aetiologic and pathogenetic features remain elusive. The identification of genetic variants in FCD opens an avenue for novel treatment strategies, which are of particular utility in cases where total resection of the epileptogenic area is impossible.
Adenomyosis and endometriosis are distinct gynecological disorders characterized by ectopic growth of endometrial tissue. Their etiology remains unclear, but stem cells have been implicated in both. The aim of this study was to investigate and compare the quantity of NOTCH1+ and CD117+ stem cells in endometriosis and adenomyosis lesions. Immunohistochemical staining of ectopic endometrium biopsies using antibodies against NOTCH1 and CD117 was performed. The quantity and spatial distribution of endometrial stromal cells positive for these markers were determined and compared between endometriosis and adenomyosis lesions. Additionally, their quantities were compared between endometriosis lesion types. Mann–Whitney U test showed that the median percentages of both NOTCH1+ and CD117+ cells in the endometriosis lesions were significantly higher than those in the adenomyosis lesions (2.26% vs. 0.13%, p = 0.002 and 0.44% vs. 0.26%, p = 0.016, respectively). Spearman’s test showed a positive correlation between NOTCH1+ and CD117+ cells in endometriosis lesions (R = 0.45, p = 0.027) but no significant correlation in adenomyosis lesions (R = −0.11, p = 0.69). The quantity of both stem cell types was highest in extragenital endometriotic lesions. Unlike adenomyosis, endometriosis lesions are associated with higher quantities of NOTCH1+ and CD117+ stem cells and a coordinated increase in their number. These findings support the distinct origin of the two conditions.
Аs many other viral pandemics, the current SARS-CoV-2 is also characterized by nervous system involvement, mainly in elderly patients with comorbidities. Recent scientific reports indicate that involvement of the nervous system is manifested by a variety of clinical symptoms related to the severity and extent of brain damage. Encephalopathy, encephalitis and polyneuritis are among the complications reported in patients with SARSCoV- 2. These complications have been morphologically proven. As an immune-privileged structure, neural tissue is particularly vulnerable to autoimmune attacks. Therefore, various neurological diseases such as MS, Guillain-Barre syndrome, as well as autoimmune encephalitis and psychosis have also been reported in patients with SARS-CoV-2 infection. Herein, we present three cases of patients who died after infection with the SARS-CoV-2 virus. We emphasize on the pathomorphological changes found in a detailed study of the brain and cervical spine. The analysis of the inflammatory findings, mainly manifested by perivenous lymphocytic infiltrates, serodiapedesis and erythrocyte depots around the vessels, showed a presence of initial demyelination (in two of the cases). The blood supply of most venous vessels with different size and a pronounced “sludge” phenomenon were the most impressive findings, as in some sections these changes were demonstrated by a presence of thrombosis. Inflammatory manifestations were also observed in the brainstem near to the stem nuclei. The SARS-CoV-2 virus induces a variety of immune system responses. In some patients there is a negligible or no reaction, while in others there is a “cytokine storm” with a system damage of multiple organs – often including the brain.
Bartholin gland carcinoma (BGC) is a rare malignancy, comprising 3–7% of vulvar cancers and 40% of cases, with histotype influencing prognosis. Adenocarcinoma and node-positive disease independently predict worse survival. Treatment hinges on complete surgical excision with 2–3 mm margins, bilateral groin evaluation, and histology-tailored adjuvant therapy. Emerging data support the use of immune checkpoint inhibitors in squamous BGC and targeted agents (e.g., mTOR/CDK4/6 inhibitors) in adenocarcinoma. We propose a practical molecular testing algorithm and highlight the urgent need for prospective, multinational collaboration to establish BGC-specific guidelines.
Endometrial carcinosarcoma (ECS) is a rare and aggressive histological subtype of endometrial cancer that is associated with a dismal prognosis. It is a biphasic metaplastic carcinoma with a monoclonal origin comprising epithelial and mesenchymal components. The ECS originates from the epithelial components of the tumor, which undergoes an epithelial-to-mesenchymal transition. Approximately half of patients are diagnosed at the early stage of the disease, whereas the other half are diagnosed at the advanced stage. More than one-third of women present with metastatic lymph nodes, and approximately 10% will have distant metastases. Therefore, ECS is the deadliest type of endometrial cancer compared to other high-grade endometrial carcinomas. Surgical resection with adjuvant therapy remains the standard of care in most cases. The rarity of this disease hinders conducting prospective clinical trials to establish the optimal treatment regimens and increase overall survival. There are no specific guidelines for managing these rare and aggressive tumors despite the increasing interest in ECS in the gynecologic oncology community. The present review focuses on all new insights into ECS regarding its epidemiology, pathology, prognosis, and treatment. Furthermore, the molecular characteristics and new treatment regimens for primary (early and advanced stages) and recurrent ECS are discussed in detail.
The most common primary cardiac tumors are myxomas, while cardiac hamartomas are rare. Cardiac hamartomas may constitute manifestation of a genetic disorder such as tuberous sclerosis, or could be diagnosed independently as a solitary lesion. We present two rare cases of primary cardiac tumors detected via diagnostic imaging and subsequent histopathology examination. The first described case is that of a male preterm foetus with multiple rhabdomyomas in the heart, discovered during foetal echocardiography. The finding was later confirmed by autopsy, which also revealed presence of cortical tubers with typical balloon cells constituting well known epileptogenic lesions in the foetal brain. The second case describes an even rarer benign cardiac lesion – a hamartoma of mature cardiomyocytes – which was discovered by chance in a 49-year old female patient during echocardiography. The performed CT scan revealed a 37 x 16 x 12 mm tumor in the right atrium obstructing the superior vena cava inlet. The malformation was surgically removed and examined histologically revealing disorganized hypertrophic mature cardiomyocytes, partly separated by fibrous strands and admixed with mature adipocytes. Differential diagnosis was performed to rule out other benign tumors with myocyte differentiation – cardiac rhabdomyoma, histiocytoid cardiomyopathy and adult cellular rhabdomyoma. Conclusion: The diagnosis of cardiac hamartomas was possible only after pathomorphological examination of material from the tumors. Reporting of rare neoplasms is crucial in order to determine their prevalence and to inform clinical practice.