Molecular exploration of paediatric intracranial germinomas from multi-ethnic Singapore
| Autor: | Wan Tew Seow, Chik Hong Kuick, Ruiyang Zou, Lihan Zhou, Nurfarhanah Bte Syed Sulaiman, David C. Y. Low, Sharon Y.Y. Low, Lee Ping Ng, He Cheng, Kenneth Tou En Chang |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Oncology
medicine.medical_specialty Population Ethnic group Subgroup analysis Southeast asian lcsh:RC346-429 03 medical and health sciences Exon 0302 clinical medicine Internal medicine Humans Medicine Child education lcsh:Neurology. Diseases of the nervous system Retrospective Studies 030304 developmental biology Paediatric patients miRNA Singapore 0303 health sciences education.field_of_study Brain Neoplasms business.industry Retrospective cohort study KIT General Medicine MicroRNAs Proto-Oncogene Proteins c-kit Intracranial germinomas 030220 oncology & carcinogenesis Cohort Germinoma Neurology (clinical) business Research Article |
| Zdroj: | BMC Neurology, Vol 20, Iss 1, Pp 1-10 (2020) BMC Neurology |
| ISSN: | 1471-2377 |
| Popis: | BackgroundGerminomas (IG) account for up to 50% of all intracranial germ cell tumours. These tumours are reputed to be more prevalent in Oriental populations in comparison to Western cohorts. Biological characteristics of IG in other ethnic groups are unknown. Singapore is a multi-ethnic country with diverse cultures. Owing to inter-racial heterogeneity, the authors hypothesize there are molecular differences between paediatric IG patients in our local population. The aims of this study are exploratory: firstly, to identify molecular characteristics in this tumour type and circulating CSF unique to different racial cohorts; and next, to corroborate our findings with published literature.MethodsThis is a single-institution, retrospective study of prospectively collected data. Inclusion criteria encompass all paediatric patients with histologically confirmed IG. Excess CSF and brain tumour tissues are collected for molecular analysis. Tumour tissues are subjected to a next generation sequencing (NGS) targeted panel forKIT and PDGRA. All CSF samples are profiled via a high-throughput miRNA multiplexed workflow. Results are then corroborated with existing literature and public databases.ResultsIn our cohort of 14 patients, there areKITexon variants in the tumour tissues and CSF miRNAs corroborative with published studies. Separately, there are alsoKITexon variants and miRNAs not previously highlighted in IG. A subgroup analysis demonstrates differential CSF miRNAs between Chinese and Malay IG patients.ConclusionThis is the first in-depth molecular study of a mixed ethnic population of paediatric IGs from a Southeast Asian cohort. Validation studies are required to assess the relevance of novel findings in our study. |
| Databáze: | OpenAIRE |
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