This article reports an unusual case of aggressive extraocular sebaceous carcinoma located on the scalp with subsequent usurpation of the bone and penetrating through the bone and meninges to the brain in a 56-year-old man affected by Muir-Torre syndrome. Microscopically, the sebaceous neoplasm was located in the middle to deep dermis without any connection to the epidermis and showed a multinodular growth with neoplastic nodules with a central comedo-type necrosis separated from each other by fibrovascular stroma. The nodules were composed of varying proportions of mature sebaceous cells and atypical basaloid cells with high degree of atypia, including high nuclear/cytoplasmic ratio, nuclear pleomorphism, macronucleoli, atypical mitoses, and necrosis. The neoplasm was totally removed. Histopathological examinations of the recurrent lesion showed identical morphological features and, in addition, signs of the tumors growing through the periosteum were noted. In the final excision specimen, both the dura mater and the brain tissue were infiltrated by the sebaceous carcinoma. The diagnosis of Muir-Torre syndrome was confirmed by molecular genetic investigation that revealed an identical germline mutation in MSH2 gene in several family members, some of whom had colorectal tumors.
- MeSH
- biopsie MeSH
- dospělí MeSH
- fatální výsledek MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- homolog 2 proteinu MutS genetika MeSH
- imunohistochemie MeSH
- invazivní růst nádoru MeSH
- karcinom genetika patologie chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mozek patologie MeSH
- mutační analýza DNA MeSH
- nádory hlavy a krku genetika patologie chirurgie MeSH
- nádory mazových žláz genetika patologie chirurgie MeSH
- počítačová rentgenová tomografie MeSH
- progrese nemoci MeSH
- rodokmen MeSH
- skalp patologie chirurgie MeSH
- Torrého-Muirův syndrom genetika patologie chirurgie MeSH
- zárodečné mutace MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Mucin and mucin-like material are features of mucinous tubular and spindle renal cell carcinoma (MTS RCC) but are rarely seen in papillary renal cell carcinoma (PRCC). We reviewed 1311 PRCC and identified 7 tumors containing extracellular and/or intracellular mucinous/mucin-like material (labeled as PRCCM). We analyzed these using morphological, histochemical, immunohistochemical, and molecular genetic methods (arrayCGH, FISH). Clinical data were available for six of the seven patients (five males and one female, age range 61-78 years). Follow-up was available for four patients (2-4 years); one patient died of widespread metastases. Tumor size ranged from 3 to 5 cm (mean 3.8). Of all cases, histological architecture showed a predominantly papillary pattern. Mucin or mucin-like was extracellular in one, intracellular in three, and both intra/extracellular in three cases. All tumors were positive for AMACR, vimentin, and OSCAR, while CK7 was positive in four. Mucicarmine stain was positive in all cases, PAS in six and Alcian blue in three cases. Five tumors were positive for MUC 1, but none were positive for MUC 2, MUC 4, or MUC 6. In only four cases, genetic analysis could be performed. Gain of chromosomes 7 and 17 was found in two cases; gain of 17 only was found in one case. Loss of heterozygosity of 3p was found in one case together with polysomy of chromosomes 7 and 17. No abnormalities of VHL, fumarate dehydrogenase, and TFE3 genes were detected. We conclude that PRCCM is a rare but challenging subtype of RCC that deserves to be further studied. In all the tumors, the mucin-like material was found in those stained with mucicarmin, but other conventional and immunohistochemical stains did not reveal consistent features of a single mucin. The molecular-genetic profile of these tumors was most consistent with that of typical papillary RCC, although one case had mixed genetic features of papillary and clear RCC. PRCCM has metastatic potential, as evidenced by one case with widespread metastases. It remains to be determined whether PRCCM represents a unique tumor subtype, deserving to be distinguished from other subtypes of PRCC.
- MeSH
- antigeny nádorové metabolismus MeSH
- hybridizace in situ fluorescenční metody MeSH
- imunohistochemie metody MeSH
- karcinom z renálních buněk genetika metabolismus patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- muciny analýza MeSH
- nádorové biomarkery analýza MeSH
- nádory ledvin genetika metabolismus patologie MeSH
- papilární karcinom patologie MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
AIM: To describe the case history and new histopathological findings of a young woman suffering from moyamoya disease. METHODS: The patient underwent brain computed tomography, magnetic resonance imaging and brain angiography. Vessel samples of a. temporalis superficialis were processed by standard histopathological and immunohistochemical methods by analysis of VEGF, VEGFR and nestin expression. RESULTS: Brain angiography revealed both internal carotid artery stenoses and stenoses of the anterior cerebral arteries. Stenotic parts of vessels were accompanied by coiled and elongated vessels with a picture of "smoke puffs carried away by breeze" after contrast medium application. Histological examination showed: obstruction of lumen, fibrocellular intimal thickening, tortuosity and disruption of internal elastic lamina. Imunohistochemistry confirmed a defect of the internal elastic membrane of the muscular arteria and progressive intimal thickening accompanied by abnormal smooth muscle cells and, VEGF/VEGFR expression in intima. Nestin positivity in endothelium of arteria indicated that endothelial cells are activated. CONCLUSION: We found that the endothelium of affected vessels is nestin positive. This, together with the finding of VEGF/VEGFR expression, might suggest an active angiogenetic process We present a new conception of pathogenesis but further studies with higher number of patients are necessary to elucidate the role of these growth factors in the moyamoya disease.
- MeSH
- arteriae carotides radiografie MeSH
- cévní endotel metabolismus patofyziologie patologie MeSH
- dospělí MeSH
- financování organizované MeSH
- imunohistochemie MeSH
- lidé MeSH
- moyamoya nemoc MeSH
- proteiny intermediálních filament analýza MeSH
- proteiny nervové tkáně analýza MeSH
- receptory vaskulárního endoteliálního růstového faktoru analýza MeSH
- vaskulární endoteliální růstové faktory analýza MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Elastofibroma is a tumorlike lesion occurring usually in the subscapular region of elderly females. In this study, 18 cases of elastofibromatous tissue retrieved from the spinal canal were analyzed to elucidate its frequency and possible clinical associations. The patients included 8 men and 10 women with a mean age of 63.4 years (range, 40-84 years). The elastic nature of the material was confirmed by Weigert's elastic stain and immunohistochemically. Elastofibroma was diagnosed in 6 patients, and elastofibroma-like tissue was found in 11 samples. The finding of elastofibromatous tissue was associated with clinical diagnosis of juxtaarticular cysts (3 cases), thickening of ligamentum flavum (4 cases), extradural expansion (2 cases), metastatic involvement of the dorsal spine (3 cases), and a vertebral fracture (1 case). Two cases were located above the transpedicular fixation. Elastofibromatous tissue may be found in approximately 2.6% of all spinal biopsies and it may take part in compression of spinal cord and nerve roots.
- MeSH
- chirurgická dekomprese MeSH
- dospělí MeSH
- elastická tkáň patologie MeSH
- fibrom komplikace patologie chirurgie MeSH
- imunohistochemie MeSH
- komprese míchy etiologie patologie chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- páteřní kanál patologie chirurgie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
Alveolární echinokokóza je vzácná zoonóza vyvolaná larválním stadiem tasemnice Echinococcus multilocularis. Larva se vyvíjí ve formě cysty (hydatidy), která imituje nádor. Díky pomalému růstu hydatid je počáteční fáze onemocnění vždy asymptomatická, klinické obtíže se objevují až po několikaleté infekci. V České republice je onemocnění zatím velmi vzácné, a tím i málo známé. Z minulosti je znám pouze jediný případ alveolární echinokokózy, který byl popsán před třiceti lety. Teprve v posledních dvou letech se objevily nové případy alveolární echinokokózy, z nichž některé mají charakter autochtonní nákazy. Vzhledem k tomu, že současné epidemiologické studie ukazují na zvýšené riziko infekce E. multilocularis ve střední Evropě, předkládáme kazuistiky alveolární echinokokózy jater u 33leté ženy a 24letého muže, které zahrnují i možnosti stanovení diagnózy a terapie onemocnění.
Alveolar echinococcosis is a rare zoonotic disease caused by the cestode larval stages of Echinococcus multilocularis. The Larva develops as a tumour like cyst (hydatid). Due to a slow cyst development, the early stage of the infection is always asymptomatic and the clinical symptoms develop after years later. In the Czech Republic the disease is still very rare. Only one alveolar echinococcosis case was reported 30 years ago. However, new alveolar echinococcosis cases occurred during last two years and some of them indicate autochtonic character of the transmission. With regard to the recent increasing risk of infection with E. multilocularis in Central Europe, we present two case reports of alveolar echinococcosis in a 33-year old woman and a 24-year old man. The reports show diagnostic process and therapy of the infection.
High-grade transformation of acinic cell carcinoma (AciCC) (previously referred to as dedifferentiation) is a rare phenomenon characterized by histologic progression of low-grade AciCC to high-grade adenocarcinoma or undifferentiated carcinoma. We report 9 new cases with immunohistochemical analysis and examination of HER-2/neu and p53 genes to further define the profile of this tumor. Histologically, the high-grade component was composed of polymorphic cells with a high mitotic rate arranged in glandular and solid growth patterns with comedonecrosis. The MIB-1 labeling indices were elevated in the high-grade component, as compared with the low grade conventional AciCC. The high-grade component of AciCC was characterized by strong membrane staining for CK18 and beta-catenin, and nuclear staining for cyclin-D1. HER-2/neu, androgen receptor, C-kit, and epidermal growth factor receptor were absent from both low-grade and high-grade components. In contrast, S-100 protein, alpha-1-antitrypsin, and lysozyme were lost only in high-grade foci of transformed AciCC. The median age was 61 years (with range from 43 to 76 y). Lymph node (LN) metastases were found in 5 of 9 cases (56%). Distant metastases to the lungs (n=4), pleura (n=2), brain (n=3), and peritoneum (n=1), and paraaortic, paratracheal, and mediastinal LNs (n=2) were observed. Six of 9 patients (66%) died from tumor dissemination, all with a median overall survival of 4.3 years (range: 1 to 9 y). The high propensity for LN metastases indicates the need for neck dissection at the time of diagnosis.
- MeSH
- acinární karcinom genetika metabolismus patologie MeSH
- dospělí MeSH
- geny erbB-2 MeSH
- geny p53 MeSH
- hybridizace in situ fluorescenční MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutační analýza DNA MeSH
- nádorová transformace buněk genetika MeSH
- nádorové biomarkery analýza MeSH
- nádorový supresorový protein p53 genetika metabolismus MeSH
- nádory příušní žlázy genetika patologie MeSH
- receptor erbB-2 genetika MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
Závěrečná zpráva o řešení grantu Interní grantové agentury MZ ČR
112 l. : tab., il. ; 30 cm
Mutational analysis of PML gene will be performed in patients with breast and colon cancer with suspect hereditary predisposition to cancer. Cyclin D1 and ZNF217 gene amplification analysis will be performed in breast cancer samples associated with hereditary predisposition and sporadic ones and differences between both groups will be determined.
Bude pátráno po zárodečných mutacích genu PML u pacientů s nádory prsu a kolorekta, u nichž je podezření, že onemocnění mohlo vzniknout na podkladě hereditární predispozice. Bude stanovena amplifikace genu pro cyklin D1 a ZNF217 ve vzorcích nádorů prsu na podkladě hereditární predispozice a sporadických a pátráno po rozdílech mezi oběma skupinami nádorů.
- MeSH
- amplifikace genu MeSH
- cyklin D1 MeSH
- kolorektální nádory etiologie genetika MeSH
- nádory prsu etiologie genetika MeSH
- protein SUMO-1 MeSH
- transkripční faktory Krüppel-like MeSH
- zárodečné mutace MeSH
- Konspekt
- Biochemie. Molekulární biologie. Biofyzika
- NLK Obory
- hematologie a transfuzní lékařství
- onkologie
- biologie
- NLK Publikační typ
- závěrečné zprávy o řešení grantu IGA MZ ČR
Východiska: Cílem studie bylo ověřit možnost předoperačního znázornění sentinelových uzlin (SLN) lymfoscintigrafi í a možnost peroperační detekce SLN po kombinovaném značení lymfotropním barvivem a radioaktivním koloidem u pacientek s časným stádiem cervikálního karcinomu. Typ studie a soubor: Klinická prospektivní studie. Od května 2004 do listopadu 2006 bylo do studie zařazeno 106 pacientek s časným stádiem karcinomu čípku děložního, u kterých byla provedena radikální operace dle Wertheima-Meigse. Metody a výsledky: Pacientky byly rozděleny podle velikosti nádoru do tří skupin. Po aplikaci techneciem značeného koloidu byla předoperačně provedena statická scintigrafi e, peroperačně byly SLN detekovány vizuálně po aplikaci lymfotropního barviva a měřením radioaktivity ruční gamasondou. SLN byly zpracovány ultramikrostagingovou technikou s využitím imunohistochemického vyšetření. Celkově bylo detekováno 309 SLN, průměrný počet SLN na pacientku byl 2,9 uzlin. Úspěšnost scintigrafi e byla 82,4 % na pacientku, resp. 62,3 % na stranu. Úspěšnost peroperační detekce byla 94,3 % na pacientku, resp. 84,4 % na stranu a je závislá na objemu tumoru. Metastatické postižení lymfatických uzlin bylo zjištěno u 39 pacientek (36,8 %). Mikrometastatické postižení lymfatických uzlin jsme zaznamenali u 15 pacientek (14,2 %). Senzitivita byla 93,9 % a negativní prediktivní hodnota 97,0 %. Falešnou negativitu SLN jsme zaznamenali ve 2 případech (5,1 %). Závěr: Kombinovaná peroperační detekce SLN lymfotropním barvivem a techneciem značeným koloidem je vhodná a přesná metoda ke stanovení lymfogenního šíření u stádia IA2- IB1 cervikálního karcinomu.
The aim of the study is to analyze the feasibility of intraoperative sentinel lymph nodes (SLN) detection using gamma detection probe and blue dye in patients with cervical cancer. Design and Subjects: Prospective clinical study. 106 patients with cervical cancer were included into the study in the period from May 2004 to November 2006. Methods and Results: Patients were divided into three groups according to the tumor volume. Lymphoscintigraphy was performed following an injection of 99m Tc-labeled nanocolloid and intraoperatively the SLN were identifi ed visually after marking of lymphatic vessels with blue dye and further detected using a handheld gamma detection probe. The SLN were histologically and immunohistochemically analyzed. Total number of 309 SLN with an average of 2.9 per patient were identifi ed. The SLN detection rate was 94.3 % per patient, 84.4 % per side, and depended on the tumor volume. Metastatic disease was detected in 39 patients (36.8 %) and micrometastatic disease in 15 patients (14.2 %). Sensitivity and negative predictive value calculated were 93.9 % and 98.0 %, false negative rate reached 5.1 %. Conclusions: Intraoperative detection of SLN using combination of technecium-99-labeled nanocolloid and blue dye represents a feasible, safe and accurate technique to identify lymphatic spreading in stages IA2-IB1 of cervical cancer.
Endolymphatic sac tumor (Heffner tumor) (ELST) is a very rare nonmetastasizing, locally aggressive low-grade adenocarcinoma of endolymphatic sac origin, which is linked to von-Hippel-Lindau disease (VHLD). VHLD is an autosomal dominant disorder characterized by an inherited genetic abnormality of the VHL gene located on the short arm of chromosome 3 (3p26-p25). VHL gene mutations have been shown both in ELSTs associated with VHLD and in sporadic cases. Because of the rarity of ELST, only a small number of cases have been subjected to molecular genetic analysis. We have encountered two patients with ELST, one of whom presented with a medical and family history of VHLD. The second was a sporadic case, the patient having no symptoms of VHLD. The tissues obtained from Heffner tumor and cerebellar hemangioblastoma from the patient with inherited VHLD possess a point mutation in exon 1 of VHL gene. This mutation is a C to T exchange at position 194, resulting in amino acid exchange S65L. No mutation was found in any of the three exons analyzed and in the exon-intron junctions of the VHL gene in the sporadic case.
- MeSH
- adenokarcinom genetika chirurgie patologie MeSH
- bodová mutace MeSH
- dospělí MeSH
- exony MeSH
- genetická predispozice k nemoci MeSH
- introny MeSH
- invazivní růst nádoru MeSH
- lidé MeSH
- mutační analýza DNA MeSH
- nádorový supresorový protein VHL genetika MeSH
- nádory lebky genetika chirurgie patologie MeSH
- nádory ucha genetika chirurgie patologie MeSH
- regulace genové exprese u nádorů MeSH
- rodokmen MeSH
- saccus endolymphaticus chirurgie patologie MeSH
- senioři MeSH
- spánková kost chirurgie patologie MeSH
- střední ucho chirurgie patologie MeSH
- von Hippelova-Lindauova nemoc genetika patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
