Although typically arranged in solid alveolar fashion, chromophobe renal cell carcinoma (RCC) may also show several other architectural growth patterns. We include in this series 8 chromophobe RCC cases with prominent papillary growth, a pattern very rarely reported or only mentioned as a feature of chromophobe RCC, which is lacking wider recognition The differential diagnosis of such cases significantly varies from the typical chromophobe RCC with its usual morphology, particularly its distinction from papillary RCC and other relevant and clinically important entities. Of 972 chromophobe RCCs in our files, we identified 8 chromophobe RCCs with papillary growth. We performed immunohistochemistry and array Comparative Genomic Hybridisation (aCGH) to investigate for possible chromosomal aberrations. Patients were 3 males and 5 females with age ranging from 30 to 84 years (mean 57.5, median 60 years). Tumor size was variable and ranged from 2 to 14 cm (mean 7.5, median 6.6 cm). Follow-up was available for 7 of 8 patients, ranging from 1 to 61 months (mean 20.1, median 12 months). Six patients were alive with no signs of aggressive behavior, and one died of the disease. Histologically, all cases were composed of dual cell population consisting of variable proportions of leaf-like cells with pale cytoplasm and eosinophilic cells. The extent of papillary component ranged from 15 to 100% of the tumor volume (mean 51%, median 50%). Sarcomatoid differentiation was identified only in the case with fatal outcome. Immunohistochemically, all tumors were positive for CK7, CD117 and Hale's Colloidal Iron. PAX8 was positive in 5 of 8 cases, TFE3 was focally positive 3 of 8 tumors, and Cathepsin K was focally positive in 2 of 8 tumors. All cases were negative for vimentin, AMACR and HMB45. Fumarate hydratase staining was retained in all tested cases. The proliferative activity was low (up to 1% in 7, up to 5% in one case). Three cases were successfully analyzed by aCGH and all showed a variable copy number variation profile with multiple chromosomal gains and losses. CONCLUSIONS: Chromophobe RCC demonstrating papillary architecture is an exceptionally rare carcinoma. The diagnosis can be challenging, although the cytologic features are consistent with the classic chromophobe RCC. Given the prognostic and therapeutic implications of accurately diagnosis other RCCs with papillary architecture (i.e., Xp11.2 translocation RCC, FH-deficient RCC), it is crucial to differentiate these cases from chromophobe RCC with papillary architecture. Based on this limited series, the presence of papillary architecture does not appear to have negative prognostic impact. However, its wider recognition may allow in depth studies on additional examples of this rare morphologic variant.
- MeSH
- chromozomální aberace MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- imunohistochemie MeSH
- karcinom z renálních buněk diagnóza genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery genetika MeSH
- nádory ledvin diagnóza genetika patologie MeSH
- papilární karcinom diagnóza genetika patologie MeSH
- prognóza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- srovnávací genomová hybridizace MeSH
- variabilita počtu kopií segmentů DNA * 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
Papillary renal cell carcinoma (PRCC) is currently a well-studied type of RCC. In addition to PRCC type 1, there are a number of other subtypes and variants of PRCCs which have been reported. We describe a series of 6 PRCCs with papillary, micropapillary and/or tubulopapillary architecture and prominent spindle cell stroma, resembling stroma in mixed epithelial and stromal tumor of the kidney (MESTK) or sarcomatoid RCC. Clinicopathologic, morphologic, immunohistochemical and molecular features were analyzed. All patients were males with an age range of 44-98 years (mean 65.3, median 65.5 years). Tumor size ranged from 2.4-11.4 cm (mean 5.8, median 4.5 cm). Follow-up data were available for 4 patients, ranging from 3 to 96 months (mean 42.75, median 36 months). Epithelial cells were mostly cylindrical with eosinophilic cytoplasm, showing nuclear grade 2 and 3 (ISUP/WHO). In all cases, loose to compact prominent stroma composed of spindle cells, without malignant mesenchymal heterologous elements was detected. No atypical mitoses were found, while typical mitoses were rare in both epithelial and stromal components. Epithelial cells were positive for CK7, AMACR, and vimentin in all cases, while negative for TFE3, HMB45, desmin, CD34, and actin. The stroma was positive for vimentin, actin and focally for CD34, while negative for CK7, AMACR, TFE3, HMB45, and desmin. Estrogen and progesterone receptors were completely negative. FH and SDHB expression was retained in all analyzable cases. Proliferative index was barely detectable in stromal component and low in epithelial component, ranging 0 to 5% positive stained cells/high power field. Copy number variation was variable with no distinct pattern. No mutations in CDKN2A, BAP1, MET were detected. PRCC with MESTK-like features is a distinct variant of PRCC mimicking MESTK. Our findings add to the body of literature on ever expanding variants of PRCCs. Both epithelial and stromal components lacked true Müllerian features, which was also proven by immunohistochemistry.
- MeSH
- buňky stromatu patologie MeSH
- dospělí MeSH
- epitelové buňky patologie MeSH
- imunohistochemie MeSH
- karcinom z renálních buněk metabolismus patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery metabolismus MeSH
- nádory ledvin metabolismus patologie MeSH
- papilární karcinom metabolismus patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- variabilita počtu kopií segmentů DNA * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
ALK-fused spitzoid neoplasms represent a distinctive group of melanocytic lesions. To date, few studies addressed genetic and chromosomal alterations in these lesions beyond the ALK rearrangements. Our objective was to study genetic alterations, including ALK gene fusions, telomerase reverse transcriptase promoter (TERT-p) mutations, chromosomal copy number changes, and mutations in other genes. We investigated 29 cases of Spitz lesions (11 Spitz nevi and 18 atypical Spitz tumors), all of which were ALK immunopositive. There were 16 female and 13 male patients, with age ranging from 1 to 43 years (mean, 18.4 years). The most common location was the lower extremity. Microscopically, all neoplasms were polypoid or dome shaped with a plexiform, predominantly dermally located proliferation of fusiform to spindled melanocytes with mild to moderate pleomorphism. The break-apart test for ALK was positive in 17 of 19 studied cases. ALK fusions were detected in 23 of 26 analyzable cases by Archer FusionPlex Solid Tumor Kit. In addition to the previously described rearrangements, 3 novel fusions, namely, KANK1-ALK, MYO5A-ALK, and EEF2-ALK, were found. Fluorescence in situ hybridization for copy number changes yielded one case with the loss of RREB1 among 21 studied cases. TERT-p hotspot mutation was found in 1 of 23 lesions. The mutation analysis of 271 cancer-related genes using Human Comprehensive Cancer Panel was performed in 4 cases and identified in each case mutations in several genes with unknown significance, except for a pathogenic variant in the BLM gene. Our study confirms that most ALK fusion spitzoid neoplasms can be classified as atypical Spitz tumors, which occurs in young patients with acral predilection and extends the spectrum of ALK fusions in spitzoid lesions, including 3 hitherto unreported fusions. TERT-p mutations and chromosomal copy number changes involving 6p25 (RRB1), 11q13 (CCND1), 6p23 (MYB), 9p21 (CDKN2A), and 8q24 (MYC) are rare in these lesions. The significance of mutation in other genes remains unknown.
- MeSH
- anaplastická lymfomová kináza genetika MeSH
- dítě MeSH
- dospělí MeSH
- epiteloidní a vřetenobuněčný névus genetika patologie MeSH
- fúzní onkogenní proteiny genetika MeSH
- hybridizace in situ fluorescenční MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- mutační analýza DNA metody MeSH
- nádory kůže genetika patologie MeSH
- onkogenní fúze genetika MeSH
- předškolní dítě MeSH
- promotorové oblasti (genetika) genetika MeSH
- sekvenční analýza DNA MeSH
- telomerasa genetika MeSH
- variabilita počtu kopií segmentů DNA MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Aj keď kvalita liečby skvamocelulárneho karcinómu pažeráka je v našich krajinách na vysokej úrovni, stále zaostávame v záchyte jeho včasných štádií, nakoľko u väčšiny prípadov v čase endoskopického vyšetrenia je ochorenie už v pokročilom štádiu. V prípade superficiálnych neoplazií GIT je základným predpokladom pre úspešnú endoskopickú liečbu, aby potenciálna mortalita sprevádzajúca chirurgický výkon bola vyššia než riziko úmrtia na disseminované ochorenie. Pri povrchových neopláziach sa jedná hlavne o lymfatické postihnutie. Rozhodujúcou a smerodajnou sa javí depistáž rizikových skupín populácie. Formou kazuistiky prezentujeme prípad pacientky so záchytom včasného skvamocelulárneho karcinómu pažeráka liečeného endoskopickou resekciou využívajúc multiband techniku. Táto metóda je relatívne jednoduchá a v naších podmienkach dostupná. Predstavuje alternatívu formy endoskopickej resekčnej techniky oproti zaužívanej mukozálnej resekcii realizovanej pomocou nadstavca, tzv. capu.
Even though the quality of esophageal squamous cell carcinoma (ESCC) treatment in our region is relatively good, detection of early asymptomatic stages of ESCC is inadequate. In most of the cases, at the time of esophagoscopy, the disease is already in an advanced stage. Endoscopic treatment is preferred in situations where the risk of surgical treatment is higher than the possible risk of disease dissemination. In the case of superficial ESCC, the main route of dissemination is lymphatic spreading. Active screening is the method of choice in identification of risk population. We present a case report of a patient with early diagnosis of ESCC treated with multiband mucosectomy, which appears as easy to use compared to classical cap endoscopic mucosal resection.
- Klíčová slova
- multiband mukozektomie,
- MeSH
- barvicí látky diagnostické užití MeSH
- endosonografie MeSH
- ezofágoskopie * metody MeSH
- ezofágus chirurgie patologie MeSH
- jodidy diagnostické užití MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory jícnu * diagnóza chirurgie patologie MeSH
- sliznice * chirurgie patologie MeSH
- spinocelulární karcinom diagnóza chirurgie patologie MeSH
- staging nádorů MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Souhrn: Prezentujeme léčbu nemocné s časným karcinomem žaludku metodou endoskopická submukózní disekce pomocí nástroje FlushKnife. Pozornost věnujeme především technickým aspektům výkonu. Kazuistické sdělení je doplněno videozáznamem.
- Klíčová slova
- endoskopická slizniční resekce, videokazuistika,
- MeSH
- adenokarcinom chirurgie MeSH
- časná detekce nádoru MeSH
- chirurgické nástroje MeSH
- disekce MeSH
- gastrointestinální endoskopie metody přístrojové vybavení MeSH
- lidé MeSH
- miniinvazivní chirurgické výkony MeSH
- nádory žaludku diagnóza chirurgie patologie MeSH
- senioři MeSH
- žaludeční sliznice chirurgie patologie MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
BACKGROUND: Primary epididymal carcinoma is an extremely rare disease with a bad prognosis. We describe the first report of radiotherapy for definitive treatment of such a tumour. CASE REPORT: A 35-year-old man with a tumour of the epididymis underwent orchiectomy and elective retroperitoneal lymphadenectomy. Adenocarcinoma of the epididymis and lymph node metastasis were confirmed. The patient refused the suggested adjuvant chemotherapy and returned to our centre with a local recurrence after 6 months. We indicated palliative radiotherapy to the scrotal and groin region. Complete remission was achieved and continues 3.5 years after treatment. Late effects included teleangiectasia, fibrosis and thickening of subcutaneous tissue, and depigmentation in the groin, but the patient enjoys very good quality of life including penile erection. CONCLUSION: We presented very good results of radiotherapy in the treatment of this rare malignant disease. We achieved complete remission with a good quality of life and with tolerable chronic toxicity.
- MeSH
- adjuvantní radioterapie MeSH
- dospělí MeSH
- lidé MeSH
- orchiektomie MeSH
- testikulární nádory radioterapie chirurgie MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Cieľ: Autori prezentujú výsledky laparoskopickej a otvorenej apendektómie u pacientov indikovaných k urgentnej operácii. Materiál a metóda: Do retrospektívnej štúdie boli vybraní 214 pacienti operovaní za 18 mesiacov (november 2004 – apríl 2006) na pracovisku autorov, u ktorých bola vykonaná urgentná apendektómia. Operovaní boli zaradení do dvoch základných skupín podľa zvoleného prístupu do brušnej dutiny – laparoskopicky vs. klasicky. V jednotlivých skupinách je hodnotená dĺžka operačného výkonu, histopatologický nález, peroperačné a pooperačné komplikácie, dĺžka operačného výkonu a trvanie pooperačnej hospitalizácie. V podskupine pacientov operovaných laparoskopicky je zvlášť hodnotená nutnosť konverzie v otvorenú operáciu. Výsledky: Z výsledkov vyplýva skrátenie doby hospitalizácie u laparoskopicky operovaných pacientov s histopatologicky pokročilým nálezom. U histopatologicky menej pokročilého nálezu sa výhody miniinvazívneho prístupu na dĺžku hospitalizácie stierajú. Záver: Pre všeobecné výhody laparoskopickej operácie je na pracovisku autorov laparoskopický prístup preferovaný ako metóda prvej voľby v liečbe akútnej apendicitídy.
Aim: The authors present results of laparoscopy versus open appendectomy in patients indicated for urgent procedures. Materials and Methods: 214 patients, who underwent urgent appendectomy during a 18-month period (November 2004 – April 2006) were included in the retrospective study. The subjects were assigned to two main study groups according to the chosen abdominal approach – laparoscopic versus classical method. Within the respective study groups, duration of the procedure, histopathological findings, peroperative and postoperative complications, duration of postoperative hospitalization were assessed. Furthermore, in the laparoscopic subgroup, requirement for conversion to open surgery is assessed. Results: The results proved that the laparoscoic approach reduced hospitalization period in patients with histopathologicaly advanced findings. The positive effect of miniinvasive methods on hospitalization duration is diminished in subjects with less advanced findings. Conclusion: Considering overall benefits of the laparoscopic procedures, the authors themselves prefer the laparoscopic method as the method of choice in management of acute appendicitis.
- MeSH
- apendektomie MeSH
- chirurgie operační metody MeSH
- laparoskopie metody MeSH
- lidé MeSH
- pooperační komplikace MeSH
- reoperace MeSH
- Check Tag
- lidé MeSH
- MeSH
- lidé MeSH
- Peutzův-Jeghersův syndrom patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
