The new WHO classification of CNS tumors is largely based on molecular diagnostic. Without molecular methods some entities can no longer be diagnosed. We are trying to show a rational approach to the CNS tumors diagnostics, which is based on conventional molecular methods such as RT-PCR, Sanger sequencing, MLPA, extended by the next generation sequencing (NGS) and methylation SNP array.

• Klíčová slova
• CNS tumors, MLPA, Methylation SNP array, RT-PCR, WHO classification, next generation sequencing (NGS),
• MeSH
• lidé MeSH
• mutace MeSH
• nádory centrálního nervového systému * diagnóza   genetika   MeSH
• vysoce účinné nukleotidové sekvenování * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Congenital mesoblastic nephroma (CMN), the most common renal tumor of infancy, is a mesenchymal neoplasm histologically classified into classic, cellular, or mixed types. Most cellular CMNs harbor a characteristic ETV6-NTRK3 fusion. Here, we report an unusual congenital mesoblastic nephroma presenting in a newborn boy with a novel EML4-ALK gene fusion revealed by Anchored Multiplex RNA Sequencing Assay. The EML4-ALK gene fusion expands the genetic spectrum implicated in the pathogenesis of congenital mesoblastic nephroma, with yet another example of kinase oncogenic activation through chromosomal rearrangement. The methylation profile of the tumor corresponds with infantile fibrosarcoma showing the biological similarity of these two entities.

• Klíčová slova
• ALK fusion, RNAseq, congenital mesoblastic nephroma, infantile fibrosarcoma, methylation profiling,
• MeSH
• fibrosarkom diagnóza   genetika   patologie   MeSH
• fúzní onkogenní proteiny genetika   MeSH
• hybridizace in situ fluorescenční MeSH
• lidé MeSH
• mezoblastický nefrom diagnóza   genetika   patologie   MeSH
• novorozenec MeSH
• protein ETS, translokační varianta 6 MeSH
• protoonkogenní proteiny c-ets genetika   MeSH
• receptor trkC genetika   MeSH
• represorové proteiny genetika   MeSH
• sekvenování transkriptomu MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• EML4-ALK fusion protein, human MeSH Prohlížeč
• fúzní onkogenní proteiny MeSH
• NTRK3 protein, human MeSH Prohlížeč
• protoonkogenní proteiny c-ets MeSH
• receptor trkC MeSH
• represorové proteiny MeSH

Molecular assays for translocation detection in different tumors have gradually been incorporated into routine diagnostics. However, conventional methods such as fluorescence in situ hybridization (FISH) and reverse transcriptase-PCR come with several drawbacks. Next-generation sequencing (NGS) can provide in-depth detection of numerous gene alterations. The anchored multiplex PCR assay proved to be a fast and easy-to-analyze approach for routine diagnostics laboratories. Next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Panels) is beneficial in both diagnosis for patient care and in identification of a novel fusion breakpoint in tumors. NGS is useful in identifying targetable molecular changes (point mutations, fusion genes, etc.) in tumors that can serve as a rationale for inclusion of patients with advanced disease in ongoing clinical trials and allow for better risk stratification.

• Klíčová slova
• Fusion genes, next generation sequencing (NGS), somatic mutations, targeted therapy,
• MeSH
• hybridizace in situ fluorescenční MeSH
• lidé MeSH
• multiplexová polymerázová řetězová reakce MeSH
• nádory * diagnóza   genetika   MeSH
• translokace genetická MeSH
• vysoce účinné nukleotidové sekvenování * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• alternativní sestřih * MeSH
• DNA vazebné proteiny genetika   MeSH
• fúzní onkogenní proteiny genetika   MeSH
• lidé MeSH
• lipoblastom genetika   patologie   MeSH
• sekvenční analýza RNA metody   MeSH
• transkripční faktor Zeb2 genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• DNA vazebné proteiny MeSH
• fúzní onkogenní proteiny MeSH
• PLAG1 protein, human MeSH Prohlížeč
• transkripční faktor Zeb2 MeSH
• ZEB2 protein, human MeSH Prohlížeč

In Czech Republic there is a long tradition of providing tertiary scholarships to students from developing countries. The government scholarship programme started in the 1950s already as a part of the Czechoslovak technical assistance to countries in the South. Even though the programme left tens of thousands of graduates all over the world, the recent programme evaluation has revealed that it is characterised by a relatively poor performance. This article brings forward the main outcomes of the programme evaluation, highlights the policy recommendations and summarises policy reflections that occurred following the evaluation. The programme evaluation was done under unfavourable circumstances and could be accordingly defined as 'shoestring evaluation'. The restrictions and their influence on evaluation outcomes are discussed in article, too.

• Klíčová slova
• Developing countries, Programme evaluation, Scholarship programmes, Shoestring evaluation, Tertiary education,
• MeSH
• financování vládou ekonomika   normy   trendy   MeSH
• hodnocení programu ekonomika   statistika a číselné údaje   MeSH
• lidé MeSH
• mezinárodní vzdělávací výměna ekonomika   trendy   MeSH
• následné studie MeSH
• rozvojové země ekonomika   statistika a číselné údaje   MeSH
• sociální opora MeSH
• stipendia ekonomika   normy   trendy   MeSH
• studenti psychologie   statistika a číselné údaje   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH