About this Research Topic
Central nervous system (CNS) tumors are the second most common tumor in the pediatric population. CNS tumors are predominantly caused by an acquired somatic mutation or an underlying germline mutation, which both can be inherited or arise de novo. It is well known that some CNS tumors result from one or many genetic cancer predisposition syndromes or have a close relationship with them. For example, approximately 10% of medulloblastoma may be accompanied by different syndromes such as Li-Fraumeni syndrome, Gorlin-Goltz syndrome, and Familial adenomatous polyposis. Germline ELP1 and GPR161 mutations are recently proven to be related to medulloblastoma. Some ependymoma patients are also found with germline MEN1 mutation (multiple endocrine neoplasia syndrome type 1).
Many genetic tumor predisposition syndromes that may cause CNS tumors have been reported at the ear of next-generation sequencing, especially in children. In this context, early diagnosis of familial tumor predisposition syndrome in children with CNS tumors and screening in family members are important. It is also important to evaluate the penetrance of putative pathogenic variation in the general population. Utilizing and combining different public NGS data could further improve our understanding of these rare diseases, which demand collaboration between different countries, and expertise from different research fields. Epidemiology and improved diagnostic criteria may provide a better understanding for clinicians and patients' families, such as “Toronto Criteria” of Li-Fraumeni syndrome.
CNS tumors in the setting of familial tumor predisposition syndromes might be similar to their sporadic counterparts or distinct. For example, choroid plexus carcinoma patients have the worst prognosis if germline TP53 mutation was found. A deeper investigation into the genetic and biology of those pediatric CNS tumors arising in familial predisposition syndromes is mandatory and may help scientists to improve the current treatment strategies or find novel therapeutic targets.
Germline mutated genes and their constituent pathways may be a good research model for drug screening. For example, mTOR inhibitors have been successfully used to treat tuberous sclerosis complex related subependymal giant cell astrocytoma. However, from the therapeutic prospect, it’s more challenging to rescue loss-of-function of genes than inhibiting the function of gain-of-function. Thus, more basic research and international collaborations should be performed to achieve the purpose of personalized therapy.
This Research Topic encourages manuscript submissions of various types: Research Articles, Review Articles, Meta-Analysis, Brief Research Report and Letter to the Editor.
Manuscripts should focus on but are not limited to:
1. Epidemiology, diagnosis, treatment in pediatric CNS tumors related with familial tumor predisposition syndromes.
2. Reviews about recent advances including new treatment targets and clinical trials.
3. Pre-clinical data such as in vitro and in vivo tests of some new small molecule drugs in hereditary disease.
4. New discovery of signal pathway or gene mutation in pediatric hereditary syndromes.
Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.
Many genetic tumor predisposition syndromes that may cause CNS tumors have been reported at the ear of next-generation sequencing, especially in children. In this context, early diagnosis of familial tumor predisposition syndrome in children with CNS tumors and screening in family members are important. It is also important to evaluate the penetrance of putative pathogenic variation in the general population. Utilizing and combining different public NGS data could further improve our understanding of these rare diseases, which demand collaboration between different countries, and expertise from different research fields. Epidemiology and improved diagnostic criteria may provide a better understanding for clinicians and patients' families, such as “Toronto Criteria” of Li-Fraumeni syndrome.
CNS tumors in the setting of familial tumor predisposition syndromes might be similar to their sporadic counterparts or distinct. For example, choroid plexus carcinoma patients have the worst prognosis if germline TP53 mutation was found. A deeper investigation into the genetic and biology of those pediatric CNS tumors arising in familial predisposition syndromes is mandatory and may help scientists to improve the current treatment strategies or find novel therapeutic targets.
Germline mutated genes and their constituent pathways may be a good research model for drug screening. For example, mTOR inhibitors have been successfully used to treat tuberous sclerosis complex related subependymal giant cell astrocytoma. However, from the therapeutic prospect, it’s more challenging to rescue loss-of-function of genes than inhibiting the function of gain-of-function. Thus, more basic research and international collaborations should be performed to achieve the purpose of personalized therapy.
This Research Topic encourages manuscript submissions of various types: Research Articles, Review Articles, Meta-Analysis, Brief Research Report and Letter to the Editor.
Manuscripts should focus on but are not limited to:
1. Epidemiology, diagnosis, treatment in pediatric CNS tumors related with familial tumor predisposition syndromes.
2. Reviews about recent advances including new treatment targets and clinical trials.
3. Pre-clinical data such as in vitro and in vivo tests of some new small molecule drugs in hereditary disease.
4. New discovery of signal pathway or gene mutation in pediatric hereditary syndromes.
Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.
Keywords: central nervous system, pediatric neuro-oncology, CNS tumors, familial tumor, gene mutation
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