Biomaterial Database

Gene-Specific DNA Methylation Profiles in Pediatric Medulloblastomas. 2022

Naz Kanit, and Ozge Uysal Yoca, and Dilek Ince, and Nur Olgun, and Erdener Ozer

Department of Molecular Medicine, Dokuz Eylul University Institute of Health Sciences, Izmir, Turkey.

BACKGROUND Medulloblastoma is the most common pediatric central nervous tumor of high malignancy that has been classified into both histological subtypes and molecular subgroups by the 2016 World Health Organization classification. However, there is a still need to understand the genomic characteristics and predict the clinical course. The aim of the study is to investigate the significance of the methylation profiles in molecular subclassification and precision medicine of the disease. METHODS The study enrolled 47 pediatric medulloblastoma patients. DNA methylation levels of KLF4, SPINT2, RASSF1A, EZH2, ZIC2, and PTCH1 genes were analyzed using methylation-specific pyrosequencing. The significance of the statistical relationship between methylation profiles and clinicopathological parameters including molecular subgroups and histological subtypes, the status of metastasis, and event-free survival were analyzed. RESULTS DNA methylation analysis demonstrated that KLF4, PTCH1, and ZIC2 hypermethylation were associated with the SHH-activated subgroup, whereas both SPINT2 and RASSF1A hypermethylation were associated with metastatic disease. EZH2 gene was not methylated in any of the samples. CONCLUSIONS We think that customized DNA methylation profiling may be a useful tool in the molecular subclassification of pediatric medulloblastoma and a potential technical approach in precision medicine.

UI	MeSH Term	Description	Entries
D008527	Medulloblastoma	A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)	Arachnoidal Cerebellar Sarcoma, Circumscribed,Medulloblastoma, Desmoplastic,Medullomyoblastoma,Sarcoma, Cerebellar, Circumscribed Arachnoidal,Medulloblastoma, Adult,Medulloblastoma, Childhood,Melanocytic Medulloblastoma,Adult Medulloblastoma,Adult Medulloblastomas,Childhood Medulloblastoma,Childhood Medulloblastomas,Desmoplastic Medulloblastoma,Desmoplastic Medulloblastomas,Medulloblastoma, Melanocytic,Medulloblastomas,Medulloblastomas, Adult,Medulloblastomas, Childhood,Medulloblastomas, Desmoplastic,Medulloblastomas, Melanocytic,Medullomyoblastomas,Melanocytic Medulloblastomas
D002528	Cerebellar Neoplasms	Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)	Benign Cerebellar Neoplasms,Cerebellar Cancer,Malignant Cerebellar Neoplasms,Cerebellar Neoplasms, Benign,Cerebellar Neoplasms, Malignant,Cerebellar Neoplasms, Primary,Cerebellar Tumors,Neoplasms, Cerebellar,Neoplasms, Cerebellar, Benign,Neoplasms, Cerebellar, Malignant,Neoplasms, Cerebellar, Primary,Primary Neoplasms, Cerebellum,Benign Cerebellar Neoplasm,Cancer, Cerebellar,Cerebellar Cancers,Cerebellar Neoplasm,Cerebellar Neoplasm, Benign,Cerebellar Neoplasm, Malignant,Cerebellar Neoplasm, Primary,Cerebellar Tumor,Cerebellum Primary Neoplasm,Cerebellum Primary Neoplasms,Malignant Cerebellar Neoplasm,Neoplasm, Benign Cerebellar,Neoplasm, Cerebellar,Neoplasm, Cerebellum Primary,Neoplasm, Malignant Cerebellar,Primary Cerebellar Neoplasm,Primary Cerebellar Neoplasms,Primary Neoplasm, Cerebellum,Tumor, Cerebellar
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019175	DNA Methylation	Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.	DNA Methylations,Methylation, DNA,Methylations, DNA
D023281	Genomics	The systematic study of the complete DNA sequences (GENOME) of organisms. Included is construction of complete genetic, physical, and transcript maps, and the analysis of this structural genomic information on a global scale such as in GENOME WIDE ASSOCIATION STUDIES.	Functional Genomics,Structural Genomics,Comparative Genomics,Genomics, Comparative,Genomics, Functional,Genomics, Structural