Soft tissue sarcomas in the head and neck are rare malignancies. They occur in this area in less than 1% of all malignant tumors. Some authors have described the development of sarcoma from the mesenchymal tissue in the larynx. The histological diagnosis of a sarcoma depends on the immunohistochemical investigation. In particularly difficult diagnoses, electron microscopy has to be used. The treatment recommendation depends on the histological type of sarcoma. We analysed and summarized data on the diagnostic criteria and therapy for sarcoma of the larynx presented in the literature. We present three new cases of laryngeal sarcoma and describe the analyses of the published diagnostic and treatment schedules of laryngeal sarcomas. We developed a treatment protocol recommendation for laryngeal sarcoma based on an analysis of literature data and case reports. This recommendation is based on histological type, staging, grading, size, and survival data.
- MeSH
- endosonografie MeSH
- fatální výsledek MeSH
- hemoragický šok diagnóza etiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory slinivky břišní komplikace diagnóza patologie MeSH
- pankreas diagnostické zobrazování patologie MeSH
- plazmocytom komplikace diagnóza patologie MeSH
- počítačová rentgenová tomografie MeSH
- portální hypertenze diagnóza etiologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
AIMS: Primary renal well-differentiated neuroendocrine tumour (NET) (hereafter referred to as renal NET) is rare, with ~100 cases having been reported in the literature. There are also limited data on the molecular-genetic background of primary renal NETs. METHODS AND RESULTS: We analysed 11 renal NETs by using next-generation sequencing (NGS) to identify characteristic genetic aberrations. All tumours were positive for synaptophysin, and also expressed insulinoma-associated protein 1 (10/11), chromogranin-A (8/11), and CD56 (3/11). Cytoplasmic positivity of CD99 was present in eight of 11 cases, and strong nuclear expression of α-thalassaemia/mental retardation syndrome X-linked (ATRX) was retained in all 11 cases. Molecular-genetic analysis of aberration of VHL gave negative results in all cases. Loss of heterozygosity on chromosome 3p21 was found in three of nine analysable cases. NGS was successful in nine cases, showing a total of 56 variants being left after the updated filtering process, representing an average of five variants per sample. All analysable cases were negative for ATRX and DAXX (death-domain associated protein X) mutations. The most frequently mutated genes were CDH1 and TET2, with three mutations in two cases. Mutations in AKT3, ROS1, PIK3R2, BCR and MYC were found in two cases. The remaining 41 genes were found to be mutated only in individual cases. In four cases, the mutations affected a subset of genes related to angiogenesis. CONCLUSIONS: Overall, the mutation profile of primary renal NETs is variable, and none of the studied genes or affected pathways seems to be specific for renal NET.
- Klíčová slova
- carcinoid, kidney, next-generation sequencing, primary, well-differentiated neuroendocrine tumour,
- MeSH
- buněčná diferenciace MeSH
- CD antigeny genetika MeSH
- dioxygenasy MeSH
- DNA vazebné proteiny genetika MeSH
- dospělí MeSH
- imunohistochemie MeSH
- kadheriny genetika MeSH
- karcinoid genetika metabolismus patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádorové biomarkery genetika metabolismus MeSH
- nádory ledvin genetika metabolismus patologie MeSH
- neuroendokrinní nádory genetika metabolismus patologie MeSH
- protoonkogenní proteiny genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- ztráta heterozygozity 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
- Názvy látek
- CD antigeny MeSH
- CDH1 protein, human MeSH Prohlížeč
- dioxygenasy MeSH
- DNA vazebné proteiny MeSH
- kadheriny MeSH
- nádorové biomarkery MeSH
- protoonkogenní proteiny MeSH
- TET2 protein, human MeSH Prohlížeč
We report the case of a 44-year-old female with sebaceous adenoma arising in mature cystic teratoma of the ovary. The patient had a tumor in the left ovary; 125 x 90 x 70 mm. Microscopically, the tumor consisted of structures typical of dermoid cysts. However, large areas of sebaceous proliferation were found. These areas were comprised of sebaceous nodules with features similar to a sebaceous adenoma of the skin. Immunohistochemically, the tumor showed "wild-type" expression of p53 and low proliferative activity (Ki-67 index < 5%). To verify the possibility of Muir-Torre syndrome we performed immunohistochemical examination of DNA mismatch repair proteins expression. However, all four proteins examined (MSH2, MSH6, MLH1, PMS2) were positive. Sebaceous adenoma arising in mature teratoma of the ovary is rare. To the best of our knowledge, only six cases have been reported in the literature to date.
- Klíčová slova
- sebaceous adenoma - mature cystic teratoma - ovary.,
- MeSH
- adenom * diagnóza MeSH
- dermoidní cysta * diagnóza MeSH
- dospělí MeSH
- lidé MeSH
- nádory vaječníků * diagnóza MeSH
- ovarium MeSH
- teratom * diagnóza MeSH
- Torrého-Muirův syndrom * diagnóza genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Background. Gastric cancer is known for a notable variety in the course of the disease. Clinical factors, such as tumor stage, grade, and localization, are key in patient survival. It is expected that molecular factors such as somatic mutations and gene amplifications are also underlying tumor biological behavior and may serve as factors for prognosis estimation. Aim. The purpose of this study was to examine gene amplifications from a panel of genes to uncover potential prognostic marker candidates. Methods. A panel of gene amplifications including 71 genes was tested by multiplex ligation-dependent probe amplification (MLPA) technique in 76 gastric cancer samples from a Caucasian population. The correlation of gene amplification status with patient survival was determined by the Kaplan-Meier method. Results. The amplification of two cell cycle regulators, CCND1 and CDKN1B, was identified to have a negative prognostic role. The medial survival of patients with gastric cancer displaying amplification compared to patients without amplification was 192 versus 725 days for CCND1 (P = 0.0012) and 165 versus 611 days for CDKN1B (P = 0.0098). Conclusion. Gene amplifications of CCND1 and CDKN1B are potential candidates to serve as prognostic markers for the stratification of patients based on the estimate of survival in the management of gastric cancer patients.
- Publikační typ
- časopisecké články MeSH
AIM: To compare molecular profiles of proximal colon, distal colon and rectum in large adenomas, early and late carcinomas. To assess feasibility of testing directed at molecular markers from this study in routine clinical practice. METHODS: A prospective 3-year study has resulted in the acquisition of samples from 159 large adenomas and 138 carcinomas along with associated clinical parameters including localization, grade and histological type for adenomas and localization and stage for carcinomas. A complex molecular phenotyping has been performed using multiplex ligation-dependent probe amplification technique for the evaluation of CpG-island methylator phenotype (CIMP), PCR fragment analysis for detection of microsatellite instability and denaturing capillary electrophoresis for sensitive detection of somatic mutations in KRAS, BRAF, TP53 and APC genes. RESULTS: Molecular types according to previously introduced Jass classification have been evaluated for large adenomas and early and late carcinomas. An increase in CIMP+ type, eventually accompanied with KRAS mutations, was notable between large adenomas and early carcinomas. As expected, the longitudinal observations revealed a correlation of the CIMP+/BRAF+ type with proximal location. CONCLUSION: Prospective molecular classification of tissue specimens is feasible in routine endoscopy practice. Increased frequency of some molecular types corresponds to the developmental stages of colorectal tumors. As expected, a clear distinction is notable for tumors located in proximal colon supposedly arising from the serrated (methylation) pathway.
- Klíčová slova
- BRAF, Colorectal cancer, CpG-island methylator phenotype, DNA, Microsatellite instability,
- MeSH
- adenom genetika patologie chirurgie MeSH
- biopsie MeSH
- CpG ostrůvky MeSH
- dospělí MeSH
- karcinom genetika patologie chirurgie MeSH
- kolonoskopie * MeSH
- kolorektální nádory genetika patologie chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metylace DNA MeSH
- mikrosatelitní nestabilita MeSH
- multiplexová polymerázová řetězová reakce * MeSH
- mutace MeSH
- mutační analýza DNA MeSH
- nádorové biomarkery genetika MeSH
- nádorový supresorový protein p53 genetika MeSH
- prediktivní hodnota testů MeSH
- prospektivní studie MeSH
- protein familiární adenomatózní polypózy genetika MeSH
- protoonkogenní proteiny B-Raf genetika MeSH
- protoonkogenní proteiny p21(ras) genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- staging nádorů MeSH
- studie proveditelnosti MeSH
- stupeň nádoru 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
- hodnotící studie MeSH
- Názvy látek
- APC protein, human MeSH Prohlížeč
- BRAF protein, human MeSH Prohlížeč
- KRAS protein, human MeSH Prohlížeč
- nádorové biomarkery MeSH
- nádorový supresorový protein p53 MeSH
- protein familiární adenomatózní polypózy MeSH
- protoonkogenní proteiny B-Raf MeSH
- protoonkogenní proteiny p21(ras) MeSH
- TP53 protein, human MeSH Prohlížeč
A case report of cutaneous mucormycosis and obstacles to early diagnosis is presented. A 38-year-old male was involved in a car accident that led to amputation of both lower limbs. Subsequently, he developed fungal wound infection of the left lower limb stump. The infection was detected very early, although the diagnosis was difficult because only a small area was affected and histopathological examination was initially negative. The infection was proven by microscopy, culture and histopathology. The isolate was identified by sequencing of the rDNA ITS region gene (internal transcribed spacer region of ribosomal DNA) as Lichtheimia corymbifera. Liposomal amphotericin B and surgery were successful in management of the disease.
- Klíčová slova
- Amphotericin B, Cutaneous mucormycosis, Lichtheimia corymbifera, Mycological diagnosis,
- MeSH
- amfotericin B aplikace a dávkování MeSH
- antifungální látky aplikace a dávkování MeSH
- časná diagnóza MeSH
- debridement MeSH
- DNA fungální chemie genetika MeSH
- dopravní nehody MeSH
- dospělí MeSH
- histocytochemie MeSH
- infekce v ráně diagnóza mikrobiologie patologie MeSH
- lidé MeSH
- mezerníky ribozomální DNA chemie genetika MeSH
- mikroskopie MeSH
- Mucorales klasifikace genetika izolace a purifikace MeSH
- mukormykóza diagnóza mikrobiologie patologie MeSH
- rány a poranění komplikace MeSH
- sekvenční analýza DNA MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- amfotericin B MeSH
- antifungální látky MeSH
- DNA fungální MeSH
- liposomal amphotericin B MeSH Prohlížeč
- mezerníky ribozomální DNA MeSH
AIM: To assess the sampling quality of four different forceps (three large capacity and one jumbo) in patients with Barrett's esophagus. METHODS: This was a prospective, single-blind study. A total of 37 patients with Barrett's esophagus were enrolled. Targeted or random biopsies with all four forceps were obtained from each patient using a diagnostic endoscope during a single endoscopy. The following forceps were tested: A: FB-220K disposable large capacity; B: BI01-D3-23 reusable large capacity; C: GBF-02-23-180 disposable large capacity; and jumbo: disposable Radial Jaw 4 jumbo. The primary outcome measurement was specimen adequacy, defined as a well-oriented biopsy sample 2 mm or greater with the presence of muscularis mucosa. RESULTS: A total of 436 biopsy samples were analyzed. We found a significantly higher proportion of adequate biopsy samples with jumbo forceps (71%) (P < 0.001 vs forceps A: 26%, forceps B: 17%, and forceps C: 18%). Biopsies with jumbo forceps had the largest diameter (median 2.4 mm) (P < 0.001 vs forceps A: 2 mm, forceps B: 1.6 mm, and forceps C: 2mm). There was a trend for higher diagnostic yield per biopsy with jumbo forceps (forceps A: 0.20, forceps B: 0.22, forceps C: 0.27, and jumbo: 0.28). No complications related to specimen sampling were observed with any of the four tested forceps. CONCLUSION: Jumbo biopsy forceps, when used with a diagnostic endoscope, provide more adequate specimens as compared to large-capacity forceps in patients with Barrett's esophagus.
- Klíčová slova
- Barrett’s esophagus, Barrett’s esophagus-related neoplasia, Biopsy forceps, Jumbo forceps, Specimen adequacy,
- MeSH
- Barrettův syndrom patologie MeSH
- biopsie přístrojové vybavení MeSH
- chirurgické nástroje * MeSH
- design vybavení MeSH
- dospělí MeSH
- ezofágoskopie MeSH
- ezofágus patologie MeSH
- jednoduchá slepá metoda MeSH
- lidé středního věku MeSH
- lidé MeSH
- prediktivní hodnota testů MeSH
- prospektivní studie MeSH
- senioři MeSH
- sliznice patologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- randomizované kontrolované studie MeSH
- srovnávací studie MeSH
- Geografické názvy
- Česká republika MeSH
