The surgical treatment of paediatric thalamic gliomas has been burdened with high morbidity, and these lesions were often considered inoperable. With new approaches and intraoperative technologies, we can remove tumours once deemed inoperable. In our single centre, we have operated on 11 paediatric patients over the course of 8 years. We have performed eight GTR resections and three intended subtotal resections. The postoperative neurological deficit ranged from mild to very severe for motor weakness and none to severe for aphasia after surgery, with all of the patients improving at 3-month follow-up. Radicality in the surgical approach to thalamic gliomas in children has shown significant benefits when compared to more conservative approaches. For children with LGGs, extensive surgical resection is associated with improved prognosis and longer progression-free survival. However, it does not yield the same proportional benefit for HGGs due to its aggressive nature and worse outlook.

• Klíčová slova
• bithalamic gliomas, paediatric thalamic gliomas, radical surgery of gliomas in children,
• Publikační typ
• časopisecké články MeSH

Infantile fibrosarcoma (IFS)/cellular congenital mesoblastic nephroma (cCMN) commonly harbors the classic ETV6-NTRK3 translocation. However, there are recent reports of mesenchymal tumors with IFS-like morphology harboring fusions of other receptor tyrosine kinases or downstream effectors, including NTRK1/2/3, MET, RET, and RAF1 fusions as well as one prior series with BRAF fusions. Discovery of these additional molecular drivers contributes to a more integrated diagnostic approach and presents important targets for therapy. Here we report the clinicopathologic and molecular features of 14 BRAF-altered tumors, of which 5 had BRAF point mutations and 10 harbored one or more BRAF fusions. Of the BRAF fusion-positive tumors, one harbored two BRAF fusions (FOXN3-BRAF, TRIP11-BRAF) and another harbored three unique alternative splice variants of EPB41L2-BRAF. Tumors occurred in ten males and four females, aged from birth to 32 years (median 6 months). Twelve were soft tissue based; two were visceral including one located in the kidney (cCMN). All neoplasms demonstrated ovoid to short spindle cells most frequently arranged haphazardly or in intersecting fascicles, often with collagenized stroma and a chronic inflammatory infiltrate. No specific immunophenotype was observed; expression of CD34, S100, and SMA was variable. To date, this is the largest cohort of BRAF-altered spindle cell neoplasms with IFS-like morphology, including not only seven novel BRAF fusion partners but also the first description of oncogenic BRAF point mutations in these tumors.

• MeSH
• bodová mutace MeSH
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• novorozenec MeSH
• onkogenní fúze MeSH
• plod MeSH
• protoonkogenní proteiny B-Raf genetika   MeSH
• sarkom genetika   patologie   MeSH
• Check Tag
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• BRAF protein, human MeSH Prohlížeč
• protoonkogenní proteiny B-Raf MeSH