Sex-specific aspects of epidemiology, molecular genetics and outcome: primary brain tumours

Rhun, Émilie Le; Weller, Michael

doi:10.1136/esmoopen-2020-001034

Cited by 17 publications

(18 citation statements)

References 49 publications

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“…The present data did not show significant sex differences in the disease burden of CNS cancer, but this needs to be confirmed, because the incidence rate, for example, varies between men and women when referring to literature from different data sources 26–28. As reported, men had higher incidences of germ cell tumours, haematopoietic neoplasms and glioblastoma, while women had higher incidences among other neuroepithelial tumours and malignant meningioma 29 30. Thus, the current study with all histological subtypes combined could not detect the potential differences between men and women.…”

Section: Discussioncontrasting

confidence: 57%

Burden of brain and other central nervous system cancer in China, 1990–2019: a systematic analysis of observational data from the global burden of disease study 2019

et al. 2022

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ObjectiveTo evaluate the trends in disease burden and the epidemiological features of central nervous system (CNS) cancer in China from 1990 to 2019.DesignA population-based observational study.SettingThe incidence, prevalence, death and disability-adjusted life years (DALYs) due to CNS cancer in China, stratified by sex, age and provincial region, were collected from the Global Burden of Disease Study 2019.ParticipantsData were publicly available and individuals were not involved.ResultsIn 2019, the incident cases of CNS cancer in China were 347 992 (95% UI 262 084–388 896), and the age-standardised rate (ASR) of incidence was 5.69 (95% UI 4.36–6.78) per 100 000 person-years increased by 27.9% compared with that in 1990; meanwhile, CNS cancer caused 63 527 (95% UI 47 793–76 948) deaths in China in 2019, and the ASR of death was 3.5 (95% UI 2.62–4.21) per 100 000 person-years decreased by 9.6%. The ASRs of incidence and prevalence of CNS cancer in China increased more rapidly than the global average; meanwhile, the ASRs of DALYs owing to CNS cancer declined more rapidly. The burden of CNS cancer showed no significant differences between men and women, but was more pronounced in early childhood and old adulthood. The ASRs of incidence and prevalence were higher in high-income provinces, confirmed by the positive correlation with Sociodemographic Index (SDI), with correlation coefficient r of 0.322 and 0.767, respectively (both p<0.0001). However, the ASRs of death and DALYs demonstrated a negative correlation with SDI, with r of -‍0.319 and −0.642, respectively (both p<0.0001).ConclusionsFrom a global perspective, China has been bearing a substantial burden of CNS cancer. More attention should be paid to children and elderly populations for CNS cancer. The disease burden varied significantly at the subnational level of China, which was associated with socioeconomic development.

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Section: Discussioncontrasting

confidence: 57%

Burden of brain and other central nervous system cancer in China, 1990–2019: a systematic analysis of observational data from the global burden of disease study 2019

et al. 2022

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“…Previous studies have indicated that the incidence rates of glioma tended to be associated with age and gender. 25 Age stratified analysis showed rs13177623 had a lower risk of glioma at age ≥ 40 years, while rs11168100, rs12654195 and rs17796757 were associated with the susceptibility to glioma at age < 40 years. These indicate that the contribution of CARMN polymorphisms to glioma risk was associated with age exposures.…”

Section: Discussionmentioning

confidence: 90%

Genetic Variations of CARMN Modulate Glioma Susceptibility and Prognosis in a Chinese Han Population

Xi¹,

Zhang²,

Wang³

et al. 2022

PGPM

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Background This study aimed to evaluate the relationship between CARMN polymorphisms and glioma risk and prognosis in a Chinese Han population. Methods Seven single nucleotide polymorphisms (SNPs) in CARMN were genotyped among 592 glioma patients and 502 healthy controls. Log-additive models were used for risk assessment by the odds ratios (ORs) and 95% confidence intervals (CIs). Univariate and multivariate Cox regression analysis was applied to calculate Hazard ratios (HRs) and 95% CIs for prognosis assessment. Results CARMN rs13177623 was a protective factor for glioma susceptibility (OR = 0.78, p = 0.043). In addition, rs13177623, rs11168100, rs12654195 and rs17796757 were associated with the risk of glioma among the subgroup stratified by age or gender. We also found that G rs13177623 G rs12654195 haplotype was related to the decreased risk of glioma (OR = 0.61, p = 0.005). Importantly, rs13177623 [overall survival (OS): HR = 0.83, p = 0.047, and progression free survival (PFS): HR = 0.82, p = 0.031], rs12654195 (OS: HR = 0.64, p = 0.005 and PFS: HR = 0.65, p = 0.007) and rs11168100 (OS: HR = 0.71, p = 0.035) were associated with a better prognosis for glioma, especially in grade I-II glioma. In patients with grade III-IV glioma, rs17796757 polymorphism presented an improved OS. Conclusion Our results firstly reported the contribution of CARMN variants (rs11168100, rs12654195, rs13177623, and rs17796757) to the susceptibility and prognosis of glioma in a Chinese Han population, which provided a novel insight on the relationship between CARMN gene and glioma tumorigenesis.

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“…Epidemiologically, neuroepithelial tumors, including all grades of gliomas, are more frequently observed in men. 24,25 In terms of survival, male patients with glioblastoma 24,[26][27][28] and grade 3 gliomas 29 present with shorter survival than female patients. Therefore, although still controversial, 28,30 male patients with malignant gliomas had worse survival.…”

Section: Discussionmentioning

confidence: 99%

Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

Saruta¹,

Shibahara²,

Handa³

et al. 2021

Journal of Neurosurgery: Case Lessons

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BACKGROUIND Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA). The findings on cranial magnetic resonance imaging of patients with LHON vary from subtle to multiple white matter changes. However, they rarely present with diffuse infiltrative white matter changes. OBSERVATIONS The authors reported a case with diffuse white matter changes mimicking gliomatosis cerebri (GC). The histological findings included only mild glial hyperplasia without immunohistochemical positivity, supporting the diagnosis of glial tumors. Analysis of mtDNA obtained from the blood and brain tissue revealed mutation of m.11778G>A in the NADH dehydrogenase 4 gene, which confirmed the case as LHON. Immunohistochemistry of the brain tissue revealed 8-hydroxy-2′-deoxyguanosine positivity, suggesting the presence of oxidative stress. LESSONS LHON is extremely difficult to diagnose unless one suspects or knows the disease. The present case brings attention not only to LHON but also to other mtDNA-mutated diseases that need to be considered with diffuse white matter changes or GC.

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Sex-specific aspects of epidemiology, molecular genetics and outcome: primary brain tumours

Cited by 17 publications

References 49 publications

Burden of brain and other central nervous system cancer in China, 1990–2019: a systematic analysis of observational data from the global burden of disease study 2019

Burden of brain and other central nervous system cancer in China, 1990–2019: a systematic analysis of observational data from the global burden of disease study 2019

Genetic Variations of CARMN Modulate Glioma Susceptibility and Prognosis in a Chinese Han Population

Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

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