false
Catalog
49th Annual Meeting of the AANS/CNS Section on Ped ...
Mutational and Gene Expression Landscapes of Two N ...
Mutational and Gene Expression Landscapes of Two Novel Sonic-Hedgehog Medulloblastoma Sub-Subgroups in Children Under Five Years - Peter Adidharma
Back to course
[Please upgrade your browser to play this video content]
Video Transcription
Good evening everyone, my name is Peter Darma and I am now a final medical student at the University of Indonesia. I want to thank the priority section for my opportunity to present my work entitled Landscape of Mutational Engine Expression of Two Novels on the Chock Medulloblastoma subscapularum in Children Under 5 Years. Medulloblastoma, the primary malignant pediatric vein tumor, accounts for 10% of childhood cancer deaths, with a poorer prognosis for children under 5 years of age. WHO now classifies medulloblastoma into 4 sub-groups with sonic head shock which is most commonly seen in young children. In this story, we will talk about sonic head shock under 5 years. Recent studies that allow increasing cohorts and providing resolution, have identified two novel clinically relevant subgroups under 5 sonic head shock, namely below 5 medulloblastoma sonic head shock 1, and under 5 medulloblastoma sonic head shock 2, i.e. under 5 sonic head shock 2. Deheterogeneity has been seen previously by Cavalli and Robinson, as seen in figure 1 and figure 2. In the Newcastle cohort, sonic patient 1 had significantly worse 5-year progression than sonic patient 2 in TNMN pathology, as seen in figure 3. However, the biology behind their differences is still unexplored. Because of this, we are fighting to establish the mutational engine expression floor of Sonic 1 and Sonic 2, and developing immunostic and diagnostic chemical tests to discriminate against them. To achieve this, we first collected 3 cohorts, namely Newcastle, Northcourt, and Cavalli. And this cohort consists of mutational, RNA-seq, and expression datasets. As seen in figure 2, we validated the Newcastle Next Generation Sequencing mutational dataset by means of Sanger delivery, and then combined it with different cohorts. As shown in Figure 3, differential gene expression analysis consisted of the conduction, then gene-set enrichment analysis, or GECA, and pathway ingenuity, or IPA, analysis on RNA-seq and expression datasets. The conducted antibodies were then tested against random samples and blinded by RNA pathology. At the mutational stage, the KMT2D mutation consisted exclusively in the Sonic 1 subgroup, as seen presumed by Blue Box. However, the gene-set that comprises beforehand in SOM, namely PAGE1 and SUVU, are different. From the composed differential gene expression analysis, we found that 80 genes differed in expression significantly across the RNA-seq and expression datasets, with a log-2 change of more than 2.5. Following IPA and GECA, we found that Sonic 1 has enrichment in stemnis, repotency, and proliferation pathways, while Sonic 2 is enriched in immunological pathways. In establishing the immunological chemistry asses of clinical neuropathology demonstrated that anti-PAX3 had 100% accuracy for differentiating novel subgroups with only positive Sonic 2 nuclei. To conclude, Sonic 1 and Sonic 2 differ biologically at the gene expression and mutational levels. Two novel molecular subgroups can be differentiated using anti-PAX3 antibody. However, this clinical relevance should be explored with future studies. Finally, I would like to thank all my colleagues at Nipkas Health Center for Cancer. Thank you very much for your viewing. I will be happy to take further questions.
Video Summary
In the video, Peter Darma, a final medical student at the University of Indonesia, presents his work on the mutational engine expression of two subgroups of medulloblastoma, a malignant pediatric brain tumor. Medulloblastoma accounts for 10% of childhood cancer deaths, with a worse prognosis for children under 5 years old. The two subgroups discussed are Sonic 1 and Sonic 2. Through differential gene expression analysis, it was found that these subgroups differ in gene expression and mutational levels. The anti-PAX3 antibody showed 100% accuracy in differentiating the subgroups. Further research is needed to explore the clinical relevance of these findings. No credits were mentioned in the video.
Keywords
Peter Darma
University of Indonesia
medulloblastoma
Sonic 1
Sonic 2
×
Please select your language
1
English