Ectopic pancreas tissue appearing in a mediastinal cyst

Heterotopia of pancreatic tissue is a common developmental anomaly. Although ectopic pancreatic tissue is mostly found in the gastrointestinal tract, localization in the mediastinum is extremely rare. We report a 32-year-old male patient who had an urgent thoracotomy two years ago due to a thoracic surgery. During the thoracotomy fragments of a partly necrotic cystic mass in the right thorax were removed and decortication was performed. Two years later the patient was hospitalized again because of haemoptoe and atypical chest pain. A residual cystic mass was detected between the right hilum and the ascending aorta connecting to the pericardium, the superior vena cava and the aorta on the chest CT. After the operation a mediastinal cyst was diagnosed, with a pancreatic tissue by histology

A hippokampusz, az agykéreg és a kisagy szöveti szerkezete fejlődésének vizsgálata aneuploid magzatok és gyermekek agyában = Histological development of the hippocampal formation, neocortex and cerebellar cortex in the brain of aneuploid children

Normális időre született gyermekekben illetve a születés utáni 2-8. években (hasonlóképpen mint felnőttkorban), minimális az új neuronok képződése az emberi hippokampuszban és nincs neuronképződés az agykéregben. Koraszülöttekben a neuronok képződése nem különbözik a normális időre születettektől, ezért feltételezzük, hogy az agyban folyó neuronképződés erős genetikai kontroll alatt áll és környezeti hatások nagyon kevéssé befolyásolják. Adataink arra hívják fel a figyelmet, hogy még a kis súllyal és korán született (24 - 27 hetek) csecsemők esetében sem magyarázható a szellemi elmaradás a neuronok képződésének csökkenésével. Valószínű, hogy finomabb, esetlegesen a szinaptikus kapcsolatokat érintő morfológiai változások vagy sejtvándorlási zavarok lehetnek az esetenként kialakuló mentális tünetek és tanulási zavarok mögött. A trisomias fetusok és gyermekek agyának vizsgálatakor azt találtuk, hogy Down szindróma esetében az általunk alkalmazott fénymikroszkópos vizsgálatokkal alig van szövettani elváltozás, míg Edwards és Patau szindrómákban, valamint egyéb kromoszómális elváltozások esetében (fragile-X, gyűrűkromoszoma, 14 triszomia) markáns és egyértelmű fénymikroszkópos elváltozások találhatóak mind az archicortexben, mind a neocortexben. Nagyon valószínű, hogy a mindig mentális retardációval járó Down szindróma esetében a neuropathologiai elváltozások ultrastruktúrális (szinaptikus) szinten keresendőek. | In newborns as well a sin 2 to 8 years old children, similarly a sin adults, there is a minimal neuronal cell formation in the hippocampal dentate gyrus and no neuronal proliferation was detected either in other parts of the hippocampal formation or in neocortex. In prematurely born infants the neuronal cell formation shows no differences when compared to age-matched controls, therefore we assume that neuronal proliferation of the human brain is under strong genetic influence, leaving very small possibility that environmental changes can influence neuronal proliferation. Our data strengthen the view that even in the case of very prematurely born children (24-27th weeks) mental retardation cannot be explained by smaller number of neurons. It is very probably, that ultrastructural changes and disturbances of cell migration may be behind the mental retardation and learning problems. Int he brains of trisomic fetuses and children we found very limited light microscopic changes in Down syndromic children. In contrast, in Edwars, Patau syndromes as well a sin other chromosomic disorders, like fragileX, marker chromosomes or in trisomia of the 14th chromosomes we found characteristic light microscopic alterations both in archicortex and in different areas of the neocortex. It is suggested that structural changes in Down syndrome, that is always associated with mental retardation, can be expected at ultrastructural, probably at synaptic level

Az első onkológiai ellátás időfaktorának szerepe a daganatos betegségek túlélési mutatóiban. Irodalmi áttekintés = The possible role of the timing of the first oncological treatment on the survival rate of cancer diseases. A literature overview

Absztrakt: A szerzők célja a felnőttkori szolid tumoroknál a műtétre, illetve definitív onkológiai kezelésre való várakozás szerepének tisztázása volt. Ennek érdekében az orvosi szakirodalom áttekintésével, 67 retrospektív vizsgálat, illetve összefoglaló munka elemzésével felmérték az időfaktor, azaz a diagnózist követő kezelésindítás statisztikailag számszerűsíthető hatását a teljes túlélésre. Az időfaktornak biztosan komoly szerepe van a biológiailag agresszívebb betegségeknél, például fiatalkori emlő- és hereráknál vagy fej-nyaki tumoroknál, de az első onkológiai ellátás néhány napos és indokolt megkésése nem negatív hatású a legtöbb szolid daganatos betegségben. A kivizsgálás, illetve a kezelésindítás menetét több orvosi és pszichoszociális tényező alakíthatja, és sokszor éppen a legelőrehaladottabb kórképek ellátása történik meg korábban, inverz túlélési hatást eredményezve. Az onkológiai kezelések eredményességét alapvetően az optimális terápiaválasztás határozza meg, mindazonáltal az időfaktor szerepének megértéséhez feltétlenül további kutatások szükségesek. Orv Hetil. 2018; 159(14): 535–546. | Abstract: The aim of this study was to survey the effects of the waiting time for the first oncology treatment in cancer diseases. By the analysis of 67 retrospective studies and reviews the numerical effects of treatment initiation time on survival were assessed. The “time factor” has a leading role on cancer types with aggressive biological behaviour, like breast cancer in younger age, testicular cancers, or head and neck tumours. However, a few days and reasonable delay to the first oncology intervention has no negative impact in numerous cancer diseases. The course of the primary check-up could be modified by several medical and psychosocial factors, and many times the treatment of the most advanced cancers are privileged causing an inverse survival effect. The effectiveness of the cancer therapies is determined by the optimal treatment decision, however, further research is necessary for the determination of the exact role of the “time factor” in oncology. Orv Hetil. 2018; 159(14): 535–546

Localized Amyloidosis of the Upper Aerodigestive Tract : Complex Analysis of the Cellular Infiltrate and the Amyloid Mass

The aim of this study was to analyse the composition of amyloid mass and the plasmacytic infiltrate of localized amyloidosis of the upper aerodigestive tract.Biopsy materials were studied by light microscopy, immunohistochemistry (IHC), and mRNA in situ hybridization (mRNA-ISH). The amyloid mass was also analysed with high-performance liquid chromatography mass spectrometry- (HPLC-MS-) based proteomics.Nodular and diffuse forms of amyloid deposition were detected. IHC analysis revealed λ-light chain (LC) in two cases, κ-LC in one case. The remaining two were positive with both. Proteins, well known from other amyloidoses like amyloid A (AA), prealbumin/transthyretin (PA), apolipoprotein A-I (ApoAI), and amyloid P component (APC), and also keratin were found with variable intensities in the cases. HPLC-MS revealed dozens of proteins with both LCs in all the lesions but sometimes with surprisingly small intensities. mRNA-ISH analysis revealed identical λ and κ dominance and only one normal κ/λ cell ratio.Cellular infiltrate and protein components in the amyloid showed congruent results in all but one case. The only exception with normal cell ratio and λ-dominant amyloid could be originated from the different protein-secreting activity of plasma cell clones. HPLC-MS analysis explored both LCs in all the amyloid in variable amount, but other proteins with much higher intensities like keratins, apolipoprotein A-IV (ApoAIV), were also detected. Proteins like AA, PA, ApoAI, and APC, previously known about amyloid-forming capability, also appeared. This indicates that localized amyloid in the upper aerodigestive tract is not a homogenous immunoglobulin mass but a mixture of proteins. The sometimes very low light chain intensities might also suggest that not all the localized amyloidosis cases of the upper aerodigestive tract are of convincingly AL type, and the analysis of the cellular infiltrate might indicate that not all are monoclonal

A vena cava inferiorból kiinduló primer leiomyosarcoma esete = A case of primary leiomyosarcoma originating from the inferior vena cava

Absztrakt: A hasi és retroperitonealis (például vese, máj) daganatokkal összefüggő vénás invázió viszonylag gyakori. Az elsődleges vascularis (vénás) daganatok azonban ritkák, szokatlanok. A szerzők egy 67 éves nőbeteg esetét ismertetik, akit rossz általános állapotban, icterusosan utaltak kórházba. Laboratóriumi leletei máj- és veseelégtelenséget mutattak. A hasi ultrahangvizsgálat egy nagy retroperitonealis terimét mutatott, lehetséges uterinalis eredettel. A hasi CT-vizsgálat is retroperitonealis folyamatot ábrázolt, amely magában foglalta a vena (v.) cava inferiort hasüregi vagy kismedencei tumor egyértelmű jele nélkül. A beteg rossz átalános állapotára tekintettel műtétet nem végeztek, a beteg néhány napos ápolás során meghalt. A boncolás a v. cava inferior primer leiomyosarcomáját igazolta. Szakirodalmi adatok alapján a v. cava inferior primer leiomyosarcomája kifejezetten ritka. A v. cava inferior leiomyosarcoma különböző tüneteket képes okozni, attól függően, hogy a véna melyik részét érinti a kórfolyamat. Sebészi beavatkozás a betegség korai stádiumában végezhető el, rossz prognózisú. A v. cava inferiort magában foglaló, bizonytalan retroperitonealis daganatok esetén a radiológusnak gondolnia kell a vascularis eredetű daganat lehetőségére is. Orv Hetil. 2019; 160(19): 756–761. | Abstract: The venous invasion from intraabdominal and retroperitoeal tumors (e.g., liver and kidney) is relatively frequent. Primary vascular (venous) tumors are uncommon. The authors review the case of a 67-year-old woman, who was admitted to the hospital in a poor general condition with jaundice. Laboratory findings indicated hepatic and renal insufficiency. Abdominal ultrasound detected a large retroperitoneal mass which was suspected to be of uterine origin. Abdominal CT showed a retroperitoneal mass that invaded the inferior vena cava, but there was no sign of primary intraabdominal or pelvic tumor. Due to the poor general condition of the patient, surgery was not performed. The patient died in some days after admission. Autopsy revealed a primary leiomyosarcoma of the inferior vena cava. Based on the literature data, primary leiomyosarcoma of the inferior vena cava is extremely rare. Leiomyosarcoma of the inferior vena cava can cause various symptoms, depending on the involved segment of the vein. Surgical intervention can be performed in early stages of the disease. In uncertain retroperitoneal tumors involving the inferior vena cava, radiologists should think of the possibility of tumor with vascular origin. Orv Hetil. 2019; 160(19): 756–761

Cholangiocarcinoma in Wilson's Disease - a Case Report

It has been suggested that hepatobiliary carcinomas are less frequent in Wilson's disease (WD) than in liver diseases of other etiology. However, the protective role of copper against malignancies is debated. Only a few cases of cholangiocarcinoma (CCC) in WD have been published. Here we report on a case of a 47-year-old male H1069Q homozygous, Kayser-Fleischer ring positive WD patient with a low ceruloplasmin level who was followed up and treated with chelating agents throughout nine years. The patient presented with neurological symptoms and liver cirrhosis at diagnosis. Clinical symptoms regressed after the treatment initiation. Rapidly developed tumour metastases were found in the bones, lung and liver (without jaundice). Autopsy revealed cholangiocarcinoma as the primary tumour confirmed by strong CK7 positivity and glypican-3 negativity. The curiosity of the presented case is the very rapid development of CCC despite continuous chelating agent therapy

Label-Free Semiquantitative Liquid Chromatography-Tandem Mass Spectrometry Proteomics Analysis of Laryngeal/Hypopharyngeal Squamous Cell Carcinoma on Formalin-Fixed, Paraffin-Embedded Tissue Samples - a Pilot Study

Squamous cell carcinoma (SCC) of the head and neck region is the sixth most frequent malignancy with high mortality rate. Due to its poor prognosis it is considered a growing public health problem worldwide inspite of existing treatment modalities. Thus, early diagnosis of new diseases and recurrences is emerging on one hand, but on the other hand troublesome in the lack of reliable tumor markers in this field. The rapid development of proteomics has opened new perspectives in tumor marker discovery. Liquid chromatography/mass spectrometry (LC/MS) as the gold standard in proteomics enables the semi-quantitative analysis of proteins within various tissues. Abundance differences between tumor and normal tissue also can be interpreted as tumor specific changes. The aim of this study was to identify potential tumor markers of laryngeal/hypopharyngeal SCC by revealing abundance changes between cancerous and the surrounding phenotypically healthy tissue. After separating the phenotypically cancerous and healthy parts of formalin-fixed paraffin-embedded tissues, each sample underwent protein recovery process and tryptic digestion for label-free semi-quantitative LC/MS analysis. Eight proteins showed significantly higher abundance in tumor including tenascin, transmembrane emp24 domain-containing protein 2, cytoplasmic dynein light chain 1, coactosin-like protein, small proline-rich protein 2D, nucleolin, U5 small nuclear RNP 200-kDa helicase and fatty aldehyde dehydrogenase. Desmoglein-1 and keratin type I cytoskeletal 9 were down-regulated in tumor. Using Ingenuity Pathway Analysis we mapped the signaling pathways these proteins play role in regarding other tumors. Based on these findings these proteins may serve as promising biomarkers in the fight against laryngeal/hypopharyngeal SCCs

Distribution of PACAP and PAC1 Receptor in the Human Eye

Pituitary adenylate cyclase–activating polypeptide (PACAP) is a neuropeptide with widespread distribution and diverse biological functions. Several studies show that PACAP has strong cytoprotective effects mediated mostly through its specific PAC1 receptor (PAC1-R) and it plays important roles in several pathological conditions. Its distribution and altered expression are known in various human tissues, but there is no descriptive data about PACAP and its receptors in the human eyebulb. Since PACAP38 is the dominant form of the naturally occurring PACAP, our aim was to investigate the distribution of PACAP38-like immunoreactivity in the human eye and to describe the presence of PAC1-R. Semiquantitative evaluation was performed after routine histology and immunohistochemical labeling on human eye sections. Our results showed high level of immunopositivity in the corneal epithelium and endothelium. Within the vascular layer, the iris and the ciliary body had strong immunopositivity for both PACAP and PAC1-R. Several layers of the retina showed immunoreactivity for PACAP and PAC1-R, but the ganglion cell layer had a special pattern in the immunolabeling. Labeling was observed in the neuropil within the optic nerve in both cases and glial cells displayed immunoreactivity for PAC1-R. In summary, our study indicates the widespread occurrence of PACAP and its specific receptor in the human eye, implying that the results from in vitro and animal studies have translational value and most probably are also present in the human eye