Genetic characterization of brain tumors in children under 5 years of age 'contextual tumor'
Jul 10, 2024
The genetic and epigenetic characteristics of pediatric cochlear abscess, a tumor in the ventricle that occurs in cochlear implantation, were analyzed using multiple omics to find out the difference between cochlear papilloma and cochlear carcinoma.
Chromosome freezing is a net-like structure made up of blood vessels and cells located in the ventricle that produces cerebrospinal fluid in the brain and spinal cord.
Professor Kim Seung-ki of Pediatric Neurosurgery at Seoul National University Hospital (Professor Ko Eun-jung and Research Professor Choi Seung-ah) and Bio at Ulsan Institute of Science and TechnologyA joint research team led by Professor Lee Se-min of the Department of Medical Engineering (Senior Researcher Choi Yeon-song and Yoon Il-sun) announced the results of a study comparing the characteristics of choroid papilloma and choroid carcinoma using tumor tissue and blood of pediatric choroid tumor patients on the 10th.
Chondrocytic tumors account for 2% to 6% of all pediatric brain tumor patients, and are mainly diagnosed in children under the age of five. Depending on histological characteristics, it is classified as ▲contextual papilloma (positive tumor, good prognosis after surgical removal) ▲an atypical contextual papilloma (moderate prognosis) ▲contextual papilloma (malignant tumor, rapid progression and high probability of recurrence).
However, choroid abscess is a rare tumor, and research has not been actively conducted because it is difficult to secure tumor tissue. Most of the existing studies had limitations in characterizing this tumor comprehensively using a single omics methodology.
The research team tried to find out the difference between chondrocytic papilloma and chondrocytic papilloma by analyzing multiple omics (analysis of genomes and transcripts together beyond the limitations of existing single omics) including ▲ whole genome sequencing ▲ whole transcriptome sequencing in 20 pediatric chondrocytes.
As a result of genetic mutation analysis, TP53 mutation was found in about 82% of patients with choroidal carcinoma, confirming that this mutation is a major genetic feature. In addition, 'EPHA7 mutation' was found mutually exclusive in patients with choroid carcinoma without TP53 mutation. This suggests that EPHA7 mutations may result in the loss of tumor suppressive properties and promote carcinoma progression.
The research team also conducted a differential expression gene (DEG) analysis to identify genes with different expression levels in choroid papilloma and choroid carcinoma. As a result, it was found that genes related to cell cycle regulation and epithelial mesenchymal transition were overexpressed in chondrocytic carcinoma compared to chondrocytic papilloma. This means that choroid carcinoma has malignant properties that can grow and metastasize faster. Furthermore, we confirmed that these gene overexpression was induced by replicant variation by multiple-omics analysis.
In particular, it has been confirmed that genes related to tumor metastasis and progression are overexpressed in patients with choroidal carcinoma accompanied by transmutation of the soft membrane (membrane surrounding the brain and spinal cord). This suggests that gene expression is different from that of the primary tumor in supragastric metastasis, a major factor determining the prognosis of choroid carcinoma.
As a result of methylation analysis, hypomethylation of the major repeat region was observed in choroidal carcinoma. This means that it can activate gene expression, thereby increasing the instability of the genome and contributing to the development of choroid carcinoma.
Finally, as a result of clone analysis, patients with choroidal carcinoma had higher intra-tumor heterogeneity than patients with choroidal papilloma. This suggests that more active tumor evolution occurs in choroid carcinoma.
Professor Kim Seung-ki (Pediatric Neurosurgery) "This study has provided a new insight into the molecular biological differences between chondrocytic papillomas and chondrocytic papillomas by comprehensively analyzing the genetic and epigenetic characteristics of chondrocytes through multiple omics techniques."We hope that an understanding of these molecular biological properties can help in the development of new targeted therapeutic strategies in the future."
On the other hand, this study, which was conducted with the support of the Children's Cancer and Rare Diseases Support Project at Seoul National University Hospital as part of the Lee Kun-hee project to overcome childhood cancer and rare diseases, was published in the recent issue of the international journal 「Acta Neuropathologica Communications」.
Chromosome freezing is a net-like structure made up of blood vessels and cells located in the ventricle that produces cerebrospinal fluid in the brain and spinal cord.
Professor Kim Seung-ki of Pediatric Neurosurgery at Seoul National University Hospital (Professor Ko Eun-jung and Research Professor Choi Seung-ah) and Bio at Ulsan Institute of Science and TechnologyA joint research team led by Professor Lee Se-min of the Department of Medical Engineering (Senior Researcher Choi Yeon-song and Yoon Il-sun) announced the results of a study comparing the characteristics of choroid papilloma and choroid carcinoma using tumor tissue and blood of pediatric choroid tumor patients on the 10th.
Chondrocytic tumors account for 2% to 6% of all pediatric brain tumor patients, and are mainly diagnosed in children under the age of five. Depending on histological characteristics, it is classified as ▲contextual papilloma (positive tumor, good prognosis after surgical removal) ▲an atypical contextual papilloma (moderate prognosis) ▲contextual papilloma (malignant tumor, rapid progression and high probability of recurrence).
However, choroid abscess is a rare tumor, and research has not been actively conducted because it is difficult to secure tumor tissue. Most of the existing studies had limitations in characterizing this tumor comprehensively using a single omics methodology.
The research team tried to find out the difference between chondrocytic papilloma and chondrocytic papilloma by analyzing multiple omics (analysis of genomes and transcripts together beyond the limitations of existing single omics) including ▲ whole genome sequencing ▲ whole transcriptome sequencing in 20 pediatric chondrocytes.
As a result of genetic mutation analysis, TP53 mutation was found in about 82% of patients with choroidal carcinoma, confirming that this mutation is a major genetic feature. In addition, 'EPHA7 mutation' was found mutually exclusive in patients with choroid carcinoma without TP53 mutation. This suggests that EPHA7 mutations may result in the loss of tumor suppressive properties and promote carcinoma progression.
The research team also conducted a differential expression gene (DEG) analysis to identify genes with different expression levels in choroid papilloma and choroid carcinoma. As a result, it was found that genes related to cell cycle regulation and epithelial mesenchymal transition were overexpressed in chondrocytic carcinoma compared to chondrocytic papilloma. This means that choroid carcinoma has malignant properties that can grow and metastasize faster. Furthermore, we confirmed that these gene overexpression was induced by replicant variation by multiple-omics analysis.
In particular, it has been confirmed that genes related to tumor metastasis and progression are overexpressed in patients with choroidal carcinoma accompanied by transmutation of the soft membrane (membrane surrounding the brain and spinal cord). This suggests that gene expression is different from that of the primary tumor in supragastric metastasis, a major factor determining the prognosis of choroid carcinoma.
As a result of methylation analysis, hypomethylation of the major repeat region was observed in choroidal carcinoma. This means that it can activate gene expression, thereby increasing the instability of the genome and contributing to the development of choroid carcinoma.
Finally, as a result of clone analysis, patients with choroidal carcinoma had higher intra-tumor heterogeneity than patients with choroidal papilloma. This suggests that more active tumor evolution occurs in choroid carcinoma.
Professor Kim Seung-ki (Pediatric Neurosurgery) "This study has provided a new insight into the molecular biological differences between chondrocytic papillomas and chondrocytic papillomas by comprehensively analyzing the genetic and epigenetic characteristics of chondrocytes through multiple omics techniques."We hope that an understanding of these molecular biological properties can help in the development of new targeted therapeutic strategies in the future."
On the other hand, this study, which was conducted with the support of the Children's Cancer and Rare Diseases Support Project at Seoul National University Hospital as part of the Lee Kun-hee project to overcome childhood cancer and rare diseases, was published in the recent issue of the international journal 「Acta Neuropathologica Communications」.
|
bellho@sportschosun.com
