The authors present 11 cases of plexiform neurofibroma (PN) that featured a very characteristic type of cell appearing as multivacuolated mucin-filled cells (MMFC). The 11 cases were obtained after reviewing 109 cases of PN. Six out of 10 patients showed clinical features of neurofibromatosis type 1. The size of PN ranged from 0.8 cm to 11.5 cm in the largest dimension. The lesions represented classical PN in all cases with myxoid, hypocellular stroma. The MMFC were found within the most myxoid tumorous nodules and were haphazardly located, typically featuring a variably sized, multivacuolated cytoplasm divided by fine septa with a small polygonal nucleus on one side, which was often compressed or slightly indented by the cytoplasmic mucous substances. In many cases, the cells resembled a soccer ball or a jellyfish. In all tested cases (n = 9), the MMFC stained for CD34; six cases were also positive with GLUT-1 antibody, and two cases expressed Claudin-1, whereas S-100 protein was negative. For comparison, we have reviewed a series of randomly selected non-PN, malignant peripheral nerve sheath tumors (MPNST) and of cases featuring non-neoplastic nerve trunks in our files, in which no MMFC were encountered. MMFC seem to be unique to myxoid areas of PN, where they occur in about 10% of cases. Their exact histogenesis is unclear but they might represent an intermediate type of cell between perineurial cells and fibroblasts. The awareness of this cell type in PN is especially important in limited (small) biopsy specimens where their recognition may provide a clue for the correct diagnosis.
- MeSH
- antigeny CD34 analýza MeSH
- biopsie MeSH
- claudin-1 analýza MeSH
- dítě MeSH
- dospělí MeSH
- imunohistochemie MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- muciny analýza MeSH
- nádorové biomarkery analýza MeSH
- neurofibromatóza 1 metabolismus patologie MeSH
- plexiformní neurofibrom chemie patologie MeSH
- prediktivní hodnota testů MeSH
- přenašeč glukosy typ 1 analýza MeSH
- prognóza MeSH
- senioři MeSH
- vakuoly chemie patologie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články 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
Pretibiální myxedém se vyskytuje u 1–10 % pacientů s Gravesovou chorobou. Onemocnění je řazeno mezi mucinózy. Autoři uvádějí případ 43leté ženy po oboustranné tyreoidektomii pro tyreotoxikózu s kožními projevy na extenzorových stranách bérců. Úspěšná léčba spočívala v lymfodrenážní a lokální kortikosteroidní terapii.
Pretibial myxoedema occurs in 1–10% of patients suffering from Graves' disease. This condition is classified as mucinosis. The authors report a case of a 43-year-old woman after bilateral thyroidectomy for thyreotoxicosis with skin manifestation on the shins. Successful therapy included lymphatic drainage and topical corticosteroids.
- Klíčová slova
- tyreopatie, depozita mucinu, tyreoidní dermopatie, lokalizovaný myxedém, lymfodrenáž,
- MeSH
- betamethason analogy a deriváty terapeutické užití MeSH
- dermatózy dolních končetin * diagnóza patologie terapie MeSH
- diosmin terapeutické užití MeSH
- dospělí MeSH
- drenáž MeSH
- Gravesova nemoc * komplikace MeSH
- kombinovaná terapie MeSH
- kompresní obvazy MeSH
- lidé MeSH
- muciny analýza MeSH
- myxedém * diagnóza patologie terapie MeSH
- tyreoidektomie MeSH
- tyreotoxikóza chirurgie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- Klíčová slova
- BELODERM,
- MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- erytém diagnóza farmakoterapie MeSH
- hormony kůry nadledvin farmakologie MeSH
- kožní nemoci diagnóza farmakoterapie MeSH
- lidé MeSH
- muciny analýza MeSH
- syndrom MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
In an attempt to obtain cell lines from the different components found in primary breast cancers, we used a low-calcium medium to culture epithelial cells of mixed phenotype and a recombinant T antigen containing retrovirus to immortalize cells found in these cultures. In each case, the histology of the sample used for culture was examined in detail and the best growth was obtained from samples associated with a substantial in situ or benign component and from lobular rather than ductal carcinomas. Clonal cell lines were developed from each of 4 tumours: 1 infiltrating ductal (tumour number 2), 2 infiltrating lobular (tumours 3 and 5) and 1 mucoid (tumour 6). To try to identify the phenotype and origin of the cell lines, immunohistochemical markers, histological analysis of tissue sections and behavioural markers were used. All the cell lines expressed mainly luminal epithelial cell markers, but the basal epithelial keratin, keratin 14, was also expressed homogeneously or heterogeneously. Growth in agar was seen with some but not all cell lines derived from only 1 tumour (tumour 5) and tumour development in nude mice was observed (with low efficiency) with cell lines from only 1 tumour (tumour 6). The data suggest that the cell lines obtained from the infiltrating ductal carcinoma (tumour 2) developed from cells cultured from the associated benign component, while the cell lines from tumours 3, 5 and 6 may each have developed from a cell in an early stage of malignancy. When tested for their ability to undergo morphogenesis on extracellular matrix components, cell lines from tumour 2 made well-developed ductal-alveolar-like structures, while those from the other tumours did not.
- MeSH
- buněčná diferenciace MeSH
- buněčné klony MeSH
- gely MeSH
- genetické vektory MeSH
- imunohistochemie MeSH
- intraduktální neinfiltrující karcinom chemie patologie MeSH
- keratiny analýza MeSH
- lidé MeSH
- muciny analýza MeSH
- myši nahé MeSH
- myši MeSH
- nádorový supresorový protein p53 analýza MeSH
- nádory prsu chemie patologie MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
