Understanding the racial specificities of diseases—such as adult diffuse glioma,the most common primary malignant tumor of the central nervous system—is a critical step toward precision medicine.Here,we comprehensiv...Understanding the racial specificities of diseases—such as adult diffuse glioma,the most common primary malignant tumor of the central nervous system—is a critical step toward precision medicine.Here,we comprehensively review studies of gliomas in East Asian populations and other ancestry groups to clarify the racial differences in terms of epidemiology and genomic characteristics.Overall,we observed a lower glioma incidence in East Asians than in Whites;notably,patients with glioblastoma had significantly younger ages of onset and longer overall survival than the Whites.Multiple genome-wide association studies of various cohorts have revealed single nucleotide polymorphisms associated with overall and subtype-specific glioma susceptibility.Notably,only 3 risk loci—5p15.33,11q23.3,and 20q13.33—were shared between patients with East Asian and White ancestry,whereas other loci predominated only in particular populations.For instance,risk loci 12p11.23,15q15-21.1,and 19p13.12 were reported in East Asians,whereas risk loci 8q24.21,1p31.3,and 1q32.1 were reported in studies in White patients.Although the somatic mutational profiles of gliomas between East Asians and non-East Asians were broadly consistent,a lower incidence of EGFR amplification in glioblastoma and a higher incidence of 1p19q-IDH-TERT triple-negative low-grade glioma were observed in East Asian cohorts.By summarizing large-scale disease surveillance,germline,and somatic genomic studies,this review reveals the unique characteristics of adult diffuse glioma among East Asians,to guide clinical management and policy design focused on patients with East Asian ancestry.展开更多
基金supported by the Excellent Young Scientists Fund(Hong Kong,China and Macao,China)(Grant No.31922088)RGC grant(Grant No.26102719)+2 种基金ITC grant(Grant Nos.MHP/004/19,ITCPD/17-9)a grant from the Department of Science and Technology of Guangdong Province(Grant No.2020A0505090007)supported partly by the Project of Hetao Shenzhen-Hong Kong Science and Technology Innovation Cooperation Zone(Grant No.HZQB-KCZYB-2020083)。
文摘Understanding the racial specificities of diseases—such as adult diffuse glioma,the most common primary malignant tumor of the central nervous system—is a critical step toward precision medicine.Here,we comprehensively review studies of gliomas in East Asian populations and other ancestry groups to clarify the racial differences in terms of epidemiology and genomic characteristics.Overall,we observed a lower glioma incidence in East Asians than in Whites;notably,patients with glioblastoma had significantly younger ages of onset and longer overall survival than the Whites.Multiple genome-wide association studies of various cohorts have revealed single nucleotide polymorphisms associated with overall and subtype-specific glioma susceptibility.Notably,only 3 risk loci—5p15.33,11q23.3,and 20q13.33—were shared between patients with East Asian and White ancestry,whereas other loci predominated only in particular populations.For instance,risk loci 12p11.23,15q15-21.1,and 19p13.12 were reported in East Asians,whereas risk loci 8q24.21,1p31.3,and 1q32.1 were reported in studies in White patients.Although the somatic mutational profiles of gliomas between East Asians and non-East Asians were broadly consistent,a lower incidence of EGFR amplification in glioblastoma and a higher incidence of 1p19q-IDH-TERT triple-negative low-grade glioma were observed in East Asian cohorts.By summarizing large-scale disease surveillance,germline,and somatic genomic studies,this review reveals the unique characteristics of adult diffuse glioma among East Asians,to guide clinical management and policy design focused on patients with East Asian ancestry.
