The 13th workshop of the European Bone Marrow Working Group in Utrecht, The Netherlands, was devoted to studying myelodysplastic syndromes (MDS) and their boundaries. The panel received 44 cases submitted to the 3 invited categories, which included: reactive cytopenias with dysplasia, idiopathic cytopenia of undetermined significance, clonal haematopoiesis of indeterminate potential, idiopathic dysplasia of uncertain significance and overt MDS. For this summary, we have selected 17 cases that highlight difficulties in separating true MDS from other causes of cytopenia and the intricate relationship between clonal haematopoiesis and true MDS. In addition, cases of overt MDS with challenging features were also selected. All cases were stained for p53 expression. Using instructive submitted cases we discuss the following: (1) cytopenia with clonal haematopoiesis not fulfilling MDS criteria, (2) cytopenia and/or dysplasia with germline mutations and/or familial history suggesting an underlying gene defect, (3) MDS based on a recurrent chromosomal abnormality and (4) overt MDS with diagnostic difficulties due to concurrent treatment or disease. The lively discussion in the open forum of the workshop illustrated the need for better integrative understanding of the evolution of acquired genetic abnormalities in haematopoiesis, and the challenge of diagnosing true MDS in cytopenic patients with genetic abnormalities, either germline or acquired.

• Klíčová slova
• Bone marrow, Classification, Cytopenia, Myelodysplastic syndrome, Next-generation sequencing, Workshop,
• MeSH
• chromozomální aberace * MeSH
• dospělí MeSH
• genetické testování MeSH
• kostní dřeň patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• myelodysplastické syndromy klasifikace   diagnóza   genetika   patologie   MeSH
• sekvenční analýza DNA MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• výchova a vzdělávání MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: We present a cohort of patients with low-stage pelviureteric neoplastic disease who underwent complete laparoscopic nephroureterectomy (CLNUE) with intravesical lockable clip (IVLC). Due to the absence of a standard technique of NUE, the study was not randomized. MATERIALS: From 1/2010 to 1/2012, 21 patients were subjected to CLNUE-IVLC. The first step was transurethral excision of the ureterovesical junction with Collin's knife deep into the paravesical adipose tissue. The ureter was grasped with biopsy forceps and the distal end of the ureter was occluded with lockable clip. The applicator was introduced through a 5 mm port inserted as an epicystostomy. The patients were rotated to flank position and CLNUE followed. The endoscopically introduced clip on the distal ureter is proof of completion of the total ureterectomy. RESULTS: The mean operation time was 161 (115-200) min. In four (19.0%), the application of the clip failed and CLNUE was completed with non-occluded ureter. In three cases, subsequent laparoscopic nephrectomy was converted to open surgery. In two cases, the distal ureterectomy was completed with pluck technique through a lower abdominal incision that was also used for extraction of the specimen. There were four complications (Clavien II 2x, IIIb, V). Follow-up was available for all - mean 10.6 (range: 0-25) months. One died of disease generalization within 11 months. CONCLUSION: CLNUE-IVLC is fast and safe. If needed, the endoscopic phase can be switched to open NUE. Disadvantages include: the need to change the position of the patient, the risk of inability to apply the clip on the distal ureter, and the risk of an unclosed defect of the urinary bladder.

• Klíčová slova
• laparoscopy, nephrectomy, ureter, urothelial carcinoma,
• Publikační typ
• časopisecké články MeSH

We attempted to investigate the clinicopathological correlation of renal oncocytoma (RO) with renal vein extension. We identified seven ROs with extension into the branches of renal vein. The age of seven patients ranged from 61 to 82 years. Five cases were identified; incidentally, two patients had gross hematuria. After surgery, all patients were alive and free of tumors with follow-up of 1 to 5 years (mean=3.6). Oncocytomas measured from 2.2 to 7.5 cm. Renal vein extension was grossly suspected in 5/7 cases and histologically confirmed in all seven cases. Tumor cells were positive for cytokeratins, mitochondrial antigen, epithelial membrane antigen, and parvalbumin; 5/7 tumors were focally positive for cluster of differentiation 117. Ultrastructurally, the cytoplasm was packed by mitochondria. Molecular genetic analysis did not detect abnormal numbers of chromosomes 1, 2, 6, 7, 10, 17, and XY by fluorescence in situ hybridization, loss of heterozygosity on 3p, and mutation of Von Hippel-Lindau gene in all cases. Array comparative genomic hybridization analysis of two cases did not show any major genetic changes. Conclusions are: (1) renal oncocytomas may have intravascular extension to the branches of the renal vein; (2) renal oncocytomas with intravascular extension to the branches of the renal vein have the same morphological, immunohistochemical, and cytogenetic findings as have their counterparts without evidence of intravascular invasion; (3) the absence of metastases suggests an overall benign behavior of this tumor, but this has to be substantiated by further studies with a long-term follow-up; (4) in a renal tumor with granular cytoplasm showing renal vein extension, it is necessary to carefully exclude renal cell carcinomas (RCC) such as chromophobe RCC, oncocytic variant of papillary RCC, and granular variant of clear cell RCC.

• MeSH
• biologické markery analýza   MeSH
• diferenciální diagnóza MeSH
• genom lidský MeSH
• hybridizace in situ fluorescenční MeSH
• hybridizace nukleových kyselin MeSH
• imunohistochemie MeSH
• keratiny analýza   MeSH
• ledviny krevní zásobení   metabolismus   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mucin 1 analýza   MeSH
• mutace MeSH
• nádorový supresorový protein VHL genetika   MeSH
• nádory ledvin genetika   metabolismus   patologie   MeSH
• oxyfilní adenom genetika   metabolismus   patologie   MeSH
• parvalbuminy analýza   MeSH
• proteiny Caenorhabditis elegans MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• vakuolární protonové ATPasy MeSH
• ztráta heterozygozity MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• biologické markery MeSH
• CAM 5.2 antigen MeSH Prohlížeč
• keratiny MeSH
• mucin 1 MeSH
• nádorový supresorový protein VHL MeSH
• parvalbuminy MeSH
• proteiny Caenorhabditis elegans MeSH
• vakuolární protonové ATPasy MeSH
• VHA-5 protein, C elegans MeSH Prohlížeč
• VHL protein, human MeSH Prohlížeč

CONTEXT: The expression of vimentin in benign renal oncocytomas has been controversial. However, this is of clinical significance because immunostains may be used in differential diagnosis of renal tumors on limited biopsy specimens. Using different staining and analysis methods, we studied vimentin immunoreactivity in a large series of renal oncocytomas with a special emphasis on the immunoreactivity patterns. OBJECTIVE: Immunohistochemical expression of vimentin has been used in the differential diagnosis of renal epithelial neoplasms. Although typically expressed in most renal cell carcinomas, the immunoreactivity of this intermediate filament in renal oncocytomas has been controversial. DESIGN: We studied vimentin immunoreactivity in a large series of 234 renal oncocytomas using 2 staining methods as well as manual and automated imaging analyses. RESULTS: We found that the focal vimentin immunoreactivity can be seen in most (72.6%) renal oncocytomas with vimentin-positive tumor cells usually found in the edge of a central scar or in small clusters scattered throughout the tumor. Computer-aided imaging analysis using ChromaVision Automatic Cellular Imaging System II confirmed the difference in vimentin immunoreactivity between oncocytoma and other renal neoplasms. CONCLUSIONS: Our study of vimentin immunohistochemistry in a series of renal oncocytomas, which to our knowledge is the largest ever published, showed focal vimentin positivity detected in most oncocytomas. Because the vimentin staining patterns in renal oncocytomas are different from those seen in clear cell or papillary renal cell carcinomas, we consider vimentin staining to be helpful in the differential diagnosis of oncocytoma from other renal tumor mimics. Furthermore, strong vimentin positivity in a renal cell neoplasm does not exclude the diagnosis of renal oncocytoma, particularly in a limited biopsy specimen.

• MeSH
• diferenciální diagnóza MeSH
• imunohistochemie MeSH
• lidé MeSH
• nádory ledvin metabolismus   patologie   MeSH
• oxyfilní adenom metabolismus   patologie   MeSH
• počítačové zpracování obrazu MeSH
• vimentin biosyntéza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• vimentin MeSH

Three patients with Gardner's syndrome having benign fibrous proliferations in the soft tissues and the oral cavity are presented. Lesions in all three patients were morphologically different. Two excised lesions in Case 1 were histologically identical to nuchal-type fibroma (NTF) and one lesion in this patient was an epidermal cyst. Case 2 had a lesion located in the soft tissues of the shoulder, which was morphologically similar to NTF and, in addition, contained mildly atypical and multinucleated fibroblastic cells. The oral lesion in Case 3 looked like a fibroma and was morphologically different from all fibrous lesions that have ever been described in Gardner's syndrome. The cases in the present report show that the term Gardner's fibroma is just a descriptive name encompassing a spectrum of morphologically different benign fibrous proliferations associated with this syndrome. Therefore, the term Gardner's fibroma should not be used as a specific name for NTF arising in patients with Gardner's syndrome as suggested in the most recent WHO classification of soft tissue and bone tumors.

• MeSH
• dospělí MeSH
• fibrom chemie   patologie   chirurgie   MeSH
• Gardnerův syndrom chemie   patologie   chirurgie   MeSH
• imunoenzymatické techniky MeSH
• lidé MeSH
• mnohočetné primární nádory chemie   patologie   chirurgie   MeSH
• nádorové biomarkery analýza   MeSH
• nádory měkkých tkání chemie   patologie   chirurgie   MeSH
• terminologie jako téma MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nádorové biomarkery MeSH