RESUMEN
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.
Asunto(s)
Fibrosarcoma/genética , Nefroma Mesoblástico/genética , Proteínas de Fusión Oncogénica/genética , Proteínas Proto-Oncogénicas c-ets/genética , Receptor trkC/genética , Proteínas Represoras/genética , Fibrosarcoma/diagnóstico , Fibrosarcoma/patología , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Masculino , Nefroma Mesoblástico/diagnóstico , Nefroma Mesoblástico/patología , RNA-Seq , Proteína ETS de Variante de Translocación 6RESUMEN
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.
Asunto(s)
Neoplasias del Sistema Nervioso Central , Secuenciación de Nucleótidos de Alto Rendimiento , Neoplasias del Sistema Nervioso Central/diagnóstico , Neoplasias del Sistema Nervioso Central/genética , Humanos , MutaciónRESUMEN
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.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Neoplasias , Humanos , Hibridación Fluorescente in Situ , Reacción en Cadena de la Polimerasa Multiplex , Neoplasias/diagnóstico , Neoplasias/genética , Translocación GenéticaRESUMEN
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.