BACKGROUND: The TMPRSS2-ERG gene fusion is one of the most widely spread chromosomal rearrangements in carcinomas. Since its discovery, a number of studies have examined its diagnostic, prognostic and therapeutic implications for prostate cancer where suitable biomarkers are still lacking. The publication data are inconsistent. The aim of this review was to critically evaluate the current clinical impact of this gene fusion. METHODS: The PubMed online database was used to search relevant reviews and original articles. RESULTS: Although the TMPRSS2-ERG gene fusion appears to be a suitable diagnostic biomarker, the prognostic implications of this gene fusion are still unclear. Several new strategies for therapeutically targeting ETS fusions and their modulators have been identified and are currently being investigated. CONCLUSION: Due to the heterogeneity of prostate cancer, the combination of several biomarkers is necessary to accurately assess the presence of prostate cancer, predict its potential clinical outcome and decide on appropriate therapy (e.g. PARP inhibitors).

• MeSH
• fúze genů genetika   MeSH
• fúzní onkogenní proteiny genetika   MeSH
• lidé MeSH
• nádorové biomarkery MeSH
• nádory prostaty diagnóza   genetika   MeSH
• prognóza MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

Uvádíme přehled metod lícování neboli registrace 2D (obrazových) a 3D (objemových) diskrétních dat. Registrací rozumíme nalezení geometrické transformace mezi dvěma soubory diskrétních dat, která ztotožní pozici, orientaci a velikost korespondujících objektů obou souborů. V biomedicíněje aktuální při srovnávání objektů v čase (např. sledování léčby nádoru) nebo při jejich sledování různými senzory (např. integrace dat z různých lékařských zobrazovacích zařízeni) nebo při rekonstrukci 3D objektů ze sériových řezů v mikroskopii a podobně.

We present a short survey of image/volume registration techniques. Registration represents determination of coefficients of geometrical transformation between two images/volumes in order to get corresponding objects into the same position, orientation and scale. In biomedicine this is actual when one compares object(s) during a time period (e.g. tumour treatment observation) or by the use of different sensors (e.g. different modality data fusion). Also, registration is a prerequisite for 3D reconstruction and visualisation of objects from serial optical slices captured by a microscope, etc.

• MeSH
• diagnóza počítačová MeSH
• registrace metody   MeSH
• sběr dat MeSH
• využití lékařské informatiky MeSH
• zobrazování dat MeSH

Acute promyelocytic leukemia (APL) with atypical breakpoints in the promyelocytic leukemia (PML) and retinoic acid receptor-alpha (RARA) genes represents a rare leukemic event, which occurs preferentially in patients with variant types of the PML/RARA fusion gene. Here we report on a patient with APL with a unique PML/RARA fusion transcript that harbors a short type of this fusion gene, exhibiting unexpected results of standard PCR diagnostics. The detected transcript originates from fusion of PML exon 4 and a truncated form of transcription variant 2 of the RARA gene, with an additional 9 bp insertion. According to our knowledge, this differs from all previously described fusion transcripts.

• MeSH
• elektroforéza v agarovém gelu MeSH
• fúzní onkogenní proteiny genetika   MeSH
• genetická transkripce MeSH
• lidé středního věku MeSH
• lidé MeSH
• messenger RNA genetika   metabolismus   MeSH
• molekulární sekvence - údaje MeSH
• protein - isoformy genetika   MeSH
• receptory kyseliny retinové genetika   MeSH
• sekvence nukleotidů MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

AIMS: This retrospective non-randomised study aims to identify new and rare fusion partners with USP6 in the setting of nodular fasciitis. It has been proven, that nodular fasciitis can harbour different variants of USP6 fusions, which can be used in routine diagnostics and even determine the biological behaviour of the process. METHODS: A total of 19 cases of nodular fasciitis examined between 2011 and 2022 at Motol University Hospital in Prague were included into this study. Next to the histopathological evaluation, all cases were assessed using immunohistochemistry, RT-PCR and Anchored multiplex RNA methods. Patient's main demographic characteristics and corresponding clinical data were also analysed. RESULTS: This study presents one novel (KIF1A) and five rare examples (TMP4, SPARC, EIF5A, MIR22HG, COL1A2) of fusion partners with USP6 among 19 cases of nodular fasciitis. CONCLUSION: Identification of USP6 fusion partners in nodular fasciitis helps to understand the biology of such lesions. Moreover, it can be useful in routine histopathological practice of soft-tissues diagnostics, especially in preventing possible misdiagnosis of malignancy.

• MeSH
• dospělí MeSH
• fasciitida * genetika   patologie   MeSH
• fúzní onkogenní proteiny genetika   MeSH
• genová přestavba * MeSH
• imunohistochemie MeSH
• kineziny genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• retrospektivní studie MeSH
• senioři MeSH
• thiolesterasa ubikvitinu * genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

We herein present a rare case of an EML4-ALK positive patient. A 61-year-old man was diagnosed with locoregional non-small cell lung cancer (NSCLC). No EGFR mutations were detected, and therefore the ALK rearrangement was evaluated using immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and the reverse transcription PCR (RT-PCR) method for EML4-ALK. All methods showed a positive result and, therefore, the patient was treated with crizotinib with a good therapeutic response. However, a detailed RT-PCR analysis and sequencing revealed an unexpected 138 bp insertion of attractin-like 1 (ATRNL1) gene into the EML4-ALK fusion gene. In our case, the positive therapeutic response suggests that ATRNL1 insertion does not affect EML4-ALK's sensitivity to crizotinib. This case shows great EML4-ALK heterogeneity and also that basic detection methods (IHC, FISH) cannot fully specify ALK rearrangement but in many cases a full specification seems to be important for an effective TKI indication, and sequencing ALK variants might contribute to optimized patient selection.

• MeSH
• fúzní onkogenní proteiny chemie   genetika   MeSH
• inhibitory proteinkinas terapeutické užití   MeSH
• inzerční mutageneze * MeSH
• lidé středního věku MeSH
• lidé MeSH
• molekulární sekvence - údaje MeSH
• nádory plic diagnóza   farmakoterapie   genetika   MeSH
• nemalobuněčný karcinom plic diagnóza   farmakoterapie   genetika   MeSH
• pyrazoly terapeutické užití   MeSH
• pyridiny terapeutické užití   MeSH
• rentgendiagnostika hrudníku MeSH
• sekvence nukleotidů MeSH
• sekvenční analýza DNA MeSH
• staging nádorů MeSH
• výsledek terapie MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

Three main uterine leiomyoma molecular subtypes include tumors with MED12 mutation, molecular aberrations leading to HMGA2 overexpression, and biallelic loss of FH. These aberrations are mutually exclusive and can be found in approximately 80-90% of uterine leiomyoma, in which they seem to be a driver event. Approximately 10% of uterine leiomyoma, however, does not belong to any of these categories. Uterine leiomyoma with HMGA2 overexpression is the most common subtype in cellular and second most common category of usual leiomyoma. In some of these tumors, rearrangement of HMGA2 gene is present. The most common fusion partner of HMGA2 gene is RAD51B. Limited data suggests that RAD51B fusions with other genes may be present in uterine leiomyoma. In our study, we described two cases of uterine leiomyoma with RAD51B::NUDT3 fusion, which occur in one case of usual and one case of highly cellular leiomyoma. In both cases, no other driver molecular aberrations were found. The results of our study showed that RAD51::NUDT3 fusion can occur in both usual and cellular leiomyoma. RAD51B may be a fusion partner of multiple genes other than HMGA2 and HMGA1. In these cases, RAD51B fusion seems to be mutually exclusive with other driver aberrations defining molecular leiomyoma subtypes. RAD51B::NUDT3 fusion should be added to the spectrum of fusions which may occur in uterine leiomyoma, which can be of value especially in cellular leiomyoma in the context of differential diagnosis against endometrial stromal tumors.

• MeSH
• DNA vazebné proteiny * genetika   MeSH
• dospělí MeSH
• fúzní onkogenní proteiny genetika   MeSH
• leiomyom * genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery genetika   MeSH
• nádory dělohy * genetika   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Synovial sarcoma (SS) is a rare soft-tissue tumor that affects children and young adults. It is characterized by chromosomal translocation t(X;18)(p11.2;q11.2), which results in the fusion of the gene SYT on chromosome 18 with SSX genes on chromosome X. Heterogeneity within SS fusion junctions is rare. We report a case of a 9-year-old boy with a high-grade spindle cell sarcoma. Reverse transcriptase-polymerase chain reaction revealed a characteristic translocation of SSs. However, this sarcoma showed a longer-than-expected PCR product after gel electrophoresis. Direct sequencing of the product disclosed a novel SYT/SSX1 fusion transcript. Detection of fusion transcripts is useful for diagnostics of SS. In each case, when considering this diagnosis on the morphologic grounds an attempt to analyze the translocation using PCR should be made, including the recognition of its uncommon variants.

• MeSH
• chromozomální aberace MeSH
• dítě MeSH
• DNA primery MeSH
• fatální výsledek MeSH
• financování organizované MeSH
• fúzní onkogenní proteiny genetika   MeSH
• kombinovaná terapie MeSH
• lidé MeSH
• lokální recidiva nádoru patologie   terapie   MeSH
• molekulární sekvence - údaje MeSH
• nádory měkkých tkání genetika   patologie   terapie   MeSH
• nádory plic genetika   sekundární   terapie   MeSH
• polymerázová řetězová reakce s reverzní transkripcí MeSH
• protokoly protinádorové kombinované chemoterapie terapeutické užití   MeSH
• radioterapie MeSH
• sekvence nukleotidů MeSH
• synoviom genetika   sekundární   terapie   MeSH
• transplantace hematopoetických kmenových buněk MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH

The aim of this study was to compare the efficacy of anterior cervical microdiscectomy and fusion carried out using a newly designed interbody spacer with that of a standard cage plate construct in patients with symptomatic cervical spine spodylosis. The comparison was based on radiographic results and fusion rates. MATERIAL: A total number of 113 consecutive patients were enrolled in this prospective study between October 2008 and July 2009. Mono- or bisegmental spondylosis was diagnosed in the patients in whom conservative treatment of cervicobrachial symptoms had had no effect. Patients with myelopathy were not included.. METHODS: All patients underwent standard anterior microdiscectomy (at one or two levels). The novel anchored spacer Zero-P was used in 61 patients (group 1) and, in 52 patients, stabilisation was done using the interbody spacer Cornerstone and dynamic plate Premier (group 2). Lateral radiographic views of the cervical spine were obtained before surgery and at 6 weeks, and then at 3, 6 and 12 months after surgery. During follow-up, the cervical spine sagittal alignment (CobbC), segmental angle of the treated levels (CobbS), amount of segmental collapse and fusion rates were measured. RESULTS: There was no significant difference in CobbC between the two groups during follow- up (p < 0.051). A significant difference in the first two values of CobbS was found (p < 0.001), but next changes in CobbS were without any difference in either group. The mean degree of interspace collapse was without any significant difference between the groups. The fusion rate was significantly higher in group 1 than group 2 nine months after surgery (p = 0.032), but was the same in both groups at 12 months after surgery (p = 1.0). CONCLUSIONS: The anchored spacer Zero-P provides biomechanical stability for the cervical spine similar to the cage and dynamic plate construct. Efforts to improve the cervical stand-alone anterior fusion device and to eliminate disadvantages of plate systems should be studied in larger patient groups with longer follow-ups. Key words: cervical spine, interbody fusion, fusion rate, radiology, stand-alone implant, Zero-P.

• MeSH
• biomechanika MeSH
• fúze páteře metody   přístrojové vybavení   škodlivé účinky   MeSH
• interní fixátory MeSH
• interpretace statistických dat MeSH
• komprese míchy MeSH
• krční obratle chirurgie   patologie   radiografie   MeSH
• lidé MeSH
• meziobratlová ploténka chirurgie   patologie   radiografie   MeSH
• nemoci páteře chirurgie   patologie   radiografie   MeSH
• pooperační komplikace MeSH
• prospektivní studie MeSH
• protézy a implantáty MeSH
• statistika jako téma MeSH
• výsledek terapie MeSH
• výsledky a postupy - zhodnocení (zdravotní péče) MeSH
• Check Tag
• lidé MeSH

Use of a multi-sensor approach can provide citizens with holistic insights into the air quality of their immediate surroundings and their personal exposure to urban stressors. Our work, as part of the ICARUS H2020 project, which included over 600 participants from seven European cities, discusses the data fusion and harmonization of a diverse set of multi-sensor data streams to provide a comprehensive and understandable report for participants. Harmonizing the data streams identified issues with the sensor devices and protocols, such as non-uniform timestamps, data gaps, difficult data retrieval from commercial devices, and coarse activity data logging. Our process of data fusion and harmonization allowed us to automate visualizations and reports, and consequently provide each participant with a detailed individualized report. Results showed that a key solution was to streamline the code and speed up the process, which necessitated certain compromises in visualizing the data. A thought-out process of data fusion and harmonization of a diverse set of multi-sensor data streams considerably improved the quality and quantity of distilled data that a research participant received. Though automation considerably accelerated the production of the reports, manual and structured double checks are strongly recommended.

• MeSH
• lidé MeSH
• ukládání a vyhledávání informací MeSH
• velkoměsta MeSH
• znečištění ovzduší * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• velkoměsta MeSH

• Klíčová slova
• rIX-FP, rVIII-SingleChain, studie AFFINITY, studie PROLONG-9FP,
• MeSH
• faktor IX terapeutické užití   MeSH
• faktor VIII terapeutické užití   MeSH
• hemofilie A * farmakoterapie   MeSH
• hemofilie B * farmakoterapie   MeSH
• klinické zkoušky, fáze III jako téma MeSH
• lidé MeSH
• rekombinantní fúzní proteiny * terapeutické užití   MeSH
• Check Tag
• lidé MeSH