We report a case of a 35-year old male patient with a tumor located in the deep dermis on his forearm. The lesion was completely excised but recurred 4 years later. The patient showed no signs of neurofibromatosis type 1. The morphology and immunophenotype of the tumor corresponded to the recently characterized group of soft tissue spindle cell lesions defined by a relatively uniform cytomorphology, patternless architecture, conspicuous stromal and perivascular hyalinization, S100 and CD34 coexpression and recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes. Using a 592-gene panel and massively parallel next-generation sequencing platform, we initially detected only NF1 gene mutation in our case. However, further molecular testing with Archer fusion assay revealed a novel NCOA4-RET gene fusion, adding it to the list of multiple kinase fusions originally reported in these tumors. Although break-apart FISH showed false negative result due to the presence of intrachromosomal rearrangement, RT-PCR confirmed the fusion transcript. Knowing the exact fusion is of great clinical importance especially for patients within the aggressive subset of these neoplasms that could be treated with selective kinase inhibitors. The presented case underscores the benefits of massively parallel sequencing as the types and number of gene fusions these tumors can potentially harbor render single-gene assays such as FISH impractical, and in this particular case, also insensitive.

• MeSH
• antigeny CD34 genetika   metabolismus   MeSH
• dospělí MeSH
• hyalin metabolismus   MeSH
• koaktivátory jaderných receptorů genetika   metabolismus   MeSH
• lidé MeSH
• mutace MeSH
• nádory měkkých tkání genetika   patologie   MeSH
• neurofibromin 1 genetika   MeSH
• onkogenní fúze * MeSH
• proteiny S100 genetika   metabolismus   MeSH
• protoonkogenní proteiny c-ret genetika   metabolismus   MeSH
• škára metabolismus   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

Aortic valve stenosis is characterized by inflammation and extracellular matrix remodelling. The aim of this study was to analyse the impact of mast cells on the occurrence of histopathological changes of aortic valves in patients with severe grade, non-rheumatic degenerative aortic valve stenosis. Valve specimens were obtained from 38 patients undergoing valve replacement. The role of mast cells was analysed by dividing the specimens into two groups, characterized by the presence (group A, N = 13) or absence of mast cells (group B, N = 25). There were no significant differences in clinical data between the two groups. In group A, T cells and macrophages were present in all aortic valves, as compared to a significantly lower proportion of valves with T cells and macrophages in group B. Valves in group A were less often calcified and hyaline-degenerated than valves in group B. There were no changes in fibrosis between the two groups. We found a positive correlation between the presence of mast cells and macrophages/T cells, a negative correlation between the presence of mast cells and calcification/ hyaline degeneration, and no correlation between the presence of mast cells and fibrosis. There was also a negative correlation between the presence of macrophages/T cells and calcification. The linear regression model identified only the presence of mast cells as an independent negative prediction value for calcification. In conclusion, mast cells might have a protective role against the development of calcification and hyaline degeneration in severe grade, non-rheumatic aortic valve stenosis.

• MeSH
• aortální chlopeň patologie   MeSH
• aortální stenóza patologie   MeSH
• dospělí MeSH
• extracelulární matrix metabolismus   MeSH
• hyalin metabolismus   MeSH
• kalcinóza patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• makrofágy metabolismus   MeSH
• mastocyty metabolismus   MeSH
• ochranné látky metabolismus   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• T-lymfocyty metabolismus   MeSH
• zánět patologie   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

We describe 23 cases of high-grade myxoinflammatory fibroblastic sarcoma (MIFS). The patients were 15 women and 8 men, with the age ranging at the time of diagnosis from 39 to 93 years (mean, 64.3 years; median, 66 years). Follow-up was available for 18 patients, of whom 9 developed metastatic disease; 7 of these died. Most tumors showed a predilection for the soft tissues of the extremities, with 14 cases involving the lower limb and 5 the upper extremity. However, in both sites, the acral parts were affected in only 1 case each. Of the 4 remaining tumors, 2 were found in axilla, 1 was found in sacral area, and 1 developed in the scar on the breast, 14 years after previous excision of a mammary carcinoma and subsequent local irradiation. The tumor size ranged from 1.3 cm to as much as 30 cm in the largest dimension with a mean size of 8.3 cm. Histologically, the tumors were characterized by occurrence of 3 types of characteristic cells, including (1) lipoblast-like cells with an ample, distended, mucin-filled cytoplasm compartmentalized by a variable number of intracytoplasmic septa, thus remotely resembling soccer balls; (2) large, polygonal, bizarre ganglion-like cells similar to those seen in the Hodgkin disease, also called Reed-Sternberg-like cells. Within an ample, deeply eosinophilic cytoplasm, there was an oval nucleus with vesicular chromatin and a large, inclusion-like nucleolus. Binucleated, multinucleated, or more pleomorphic forms of these cells were also present; (3) cells with emperipolesis of variable sizes, ranging from very inconspicuous neoplastic cells containing only one to a few engulfed cells to conspicuous large ones having many inflammatory cells, usually polymorphonuclear leukocytes admixed with various numbers of some lymphoid cells, within the cytoplasm. Quite often, we found elements that combined the histologic features of all the above 3 characteristic tumor cell types. In 2 tumors, we found an additional undifferentiated spindle cell sarcoma component, whereas in another tumor, a chondrosarcomatous moiety was evident. For comparison, we studied 10 cases of pleomorphic hyalinizing angiectatic tumor (PHAT) of soft tissues. Based on the identification of morphological changes typical for MIFS within most of the cases of PHAT, we suggest that most cases of PHAT represent examples of MIFS merely having hyaline ectatic vessels.

• MeSH
• chondrosarkom metabolismus   patologie   MeSH
• cyklin D1 metabolismus   MeSH
• dospělí MeSH
• fibrosarkom metabolismus   patologie   MeSH
• hyalin metabolismus   MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• lokální recidiva nádoru metabolismus   patologie   MeSH
• myxosarkom metabolismus   patologie   MeSH
• nádory měkkých tkání metabolismus   patologie   MeSH
• následné studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• zánět metabolismus   patologie   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

SUMMARY: We report 5 patients with cellular ovarian fibromas, which contained heavy depositions of hyaline globules, a remarkable and very conspicuous histologic feature of all tumors. The hyaline globules ranged in size from 1 to 25 microm. Some cells were stuffed with myriads of small hyaline globules 1 to 3 microm in size, whereas in the other cells the globules were up to 25 microm in size. The hyaline globules were stained with periodic acid-Schiff, and were mucicarmine and Alcian blue negative. These hyaline globules were present, at least in small numbers, in all 100 hematoxylin and eosin slides reviewed from all 5 cases in this series. Often the cells containing the hyaline globules showed a signet-ring appearance in the more compact cellular areas. All the tumors in our series appear to have a benign course. The patients were without signs of recurrence and without metastasis 1, 2, 3, and 6 years after the excision of the neoplasms. Follow-up in one of the patients was not available. The distinction of the ovarian fibromas with hyaline globules from the Krukenberg tumors and yolk sac tumor is discussed in the paper.

• MeSH
• diferenciální diagnóza MeSH
• fibrom metabolismus   patologie   MeSH
• hyalin metabolismus   MeSH
• imunohistochemie MeSH
• Krukenbergův nádor patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• nádor z entodermálního sinusu patologie   MeSH
• nádory vaječníků metabolismus   patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH

Pleomorphic hyalinizing angiectatic tumor (PHAT) of the soft tissue is a rare distinctive tumor listed as a benign neoplasm in the new World Health Organization classification. It may recur and most reported recurrent tumors retained the typical morphological appearance of PHAT; rare tumors recurred with the appearance of a sarcoma. Reported herein is an additional example of recurrent PHAT, but in contrast to the previously described cases the present tumor morphologically qualified as a sarcoma from the very beginning; it recurred as a high-grade myxofibrosarcoma. A 76-year-old woman presented with a solitary subcutaneous tumor in the axilla that was surgically removed. Seven months later, the patient experienced a local recurrence. Microscopically, the typical features of PHAT were identified in the initial lesion, namely hyalinized, fibrin-containing vessels and pleomorphic stromal cells; there were areas of hemorrhage and necrosis. Additionally, peripherally located areas of the tumor manifested highly pleomorphic cells with frequent atypical mitoses, producing a sarcomatous appearance. The mitotic index in the sarcomatous part was 1/10 high-power fields (HPF). Hyalinized, fibrin-containing vessels were absent in these sarcomatous areas, and the stroma was myxoid. The recurrent lesion was composed of large highly pleomorphic oval, round, spindled or bizarre cells with a high mitotic rate, ranging from 3/10 HPF to 7/10 HPF. The neoplastic cells were arranged haphazardly in a myxoid matrix. Hyalinized, fibrin-containing vessels typical for PHAT were absent. PHAT may be more aggressive than previously thought, and PHAT may encompass a morphological spectrum of the lesion ranging from benign to malignant.

• MeSH
• dermatofibrosarkom patologie   MeSH
• fibrin metabolismus   MeSH
• hyalin metabolismus   MeSH
• kůže krevní zásobení   metabolismus   patologie   MeSH
• lidé MeSH
• lokální recidiva nádoru MeSH
• nádory kůže patologie   MeSH
• nekróza MeSH
• sarkom metabolismus   patologie   MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

• MeSH
• cytoplazma metabolismus   ultrastruktura   MeSH
• DNA nádorová analýza   MeSH
• hyalin metabolismus   MeSH
• karcinom z renálních buněk diagnóza   genetika   metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory ledvin diagnóza   genetika   MeSH
• RNA nádorová analýza   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

• MeSH
• hyalin MeSH
• kloubní chrupavka MeSH
• lidé MeSH
• nemoci chrupavky MeSH
• Check Tag
• lidé MeSH

U pracovníků exponovaných azbestu s nálezem pleurálních hyalinóz bude sledován vztah k výskytu ventilační poruchy, jejímu typu, respektive typickému postižení jednotlivých ventilačních parametrů. Bude porovnána senzitivita zadopředního skiagramu hrudníkua HRCT plic pro pleurální hyalinózy a fibrózy způsobené azbestem a navržen optimální diagnostický algoritmus pro jejich sledování a odškodnění.; Workers exposed to asbestos who developed pleural hyalinosis will be investigated to find out possible association of the disease with certain type of ventilation disorders and typical changes in ventilation parameters. Sensitivity of postero-anterior chest skiagram and lung HRCT for diagnosis of pleural hyalinosis and finrosis due to asbest will be compared and an optimum diagnostic algorithm for their monitoring and compensation will be suggested.

• MeSH
• azbest škodlivé účinky   MeSH
• hyalin MeSH
• nemoci pleury MeSH
• nemoci z povolání diagnóza   MeSH
• pracovní expozice MeSH
• respirační insuficience MeSH

• Konspekt
• Lékařské vědy. Lékařství
• NLK Obory
• pracovní lékařství
• pneumologie a ftizeologie
• NLK Publikační typ
• závěrečné zprávy o řešení grantu IGA MZ ČR

• MeSH
• agresivní fibromatóza diagnóza   farmakologie   genetika   MeSH
• dospělí MeSH
• gingiva patologie   MeSH
• histologické techniky metody   MeSH
• hyalin MeSH
• hyperplazie MeSH
• lidé MeSH
• nádory měkkých tkání MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

• MeSH
• adenokarcinom ultrastruktura   MeSH
• adenom ultrastruktura   MeSH
• hyalin MeSH
• lidé MeSH
• nádory ledvin ultrastruktura   MeSH
• Check Tag
• lidé MeSH