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Endometrial cancer is the most common malignant tumor of the uterus, but the underlying genetic mechanisms of EC remain unclear. To identify candidate genes and investigate genetic mechanisms for endometrial cancer, we utilized the summary-data-based Mendelian randomization (SMR) method to investigate causal associations between genetic variants, gene expression, DNA methylation, and endometrial cancer. Three main analyses were conducted utilizing cis-expression and methylation quantitative trait loci (eQTLs and mQTLs) as instrumental variables to examine causal relationships with endometrial cancer, and assessing the causal relationship between DNA methylation and gene expression. Data sources included genetic association data from O'Mara et al. eQTL data from the GTEx database, and mQTL data from McRae et al. Analysis involved the HEIDI test to distinguish pleiotropy, SMR analysis with multiple testing correction, and colocalization analysis to assess associations driven by linkage disequilibrium. Functional enrichment analysis was performed by the Metascape tool. Our study showed that three genes, SNX11, LINC00243, and EVI2A, were identified as causally related to endometrial cancer. SNX11 exhibited a positive causal relationship, while LINC00243 and EVI2A showed negative ones. Furthermore, 24 CpG sites were identified as causally related to endometrial cancer, with cg14424631 (CYP19A1) being the most significant. The study revealed common genes implicated in endometrial cancer, gene expression, and methylation sites, with LINC00243 playing a key role. Colocalization analysis confirmed significant causal relationships between LINC00243, SNX11, and endometrial cancer. Enrichment analysis uncovered pathways like interferon gamma signaling enriched in both endometrial cancer GWAS and e/mQTL. These findings shed light on the molecular mechanisms underlying endometrial cancer development. The study identified candidate genes and DNA methylation loci causally associated with endometrial cancer, which are expected to serve as potential targets for treatment.

Introduction: Intrahepatic primary osteosarcoma is a rare disease with a very low incidence but a very poor prognosis. A total of 12 cases have been previously reported, and in most of these cases, intra-focal calcification was observed. This paper aims to report a case of non-calcified intrahepatic primary osteosarcoma., Case Description: We hereby report a female patient with hepatitis B for 20 years, identified during a routine examination due to a mass in the right lobe of the liver. The patient experienced no significant discomfort, and the serological tumor markers were not elevated. Surgical resection was performed after comprehensive examinations, and postoperative pathology showed primary osteosarcoma of the liver. The patient experienced recurrence and metastasis seven months postoperatively and died eight and a half months postoperatively., Conclusion: Intrahepatic primary osteosarcoma is an extremely rare disease, and it currently requires a combination of clinical, radiological, and pathological findings to make a diagnosis of exclusion. Further, patients may benefit from early diagnosis, aggressive surgery, and post-operative chemotherapy.