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Background: Multiple primary cancer (MPC) refers to the presence of more than one cancer in an individual. Triple primary malignancies are uncommon. Case: We report the case of a 50-year-old postmenopausal woman in our gynecology department, diagnosed with endometrial cancer, ovarian cancer, and unilateral breast cancer. She carried germline mutations in BRCA2, PALB2, and RECQL4, along with a somatic pathogenic variant in TP53. Endometrial cancer patients harboring germline pathogenic variants in BRCA2 exhibit a heightened risk of ovarian and breast cancer. BRCA2 is known to play a role in the development of ovarian and breast cancer, while PALB2 is identified as a gene associated with breast cancer susceptibility. RECQL4 has been linked to breast cancer, cervical cancer, and other tumors. Conclusion: Genetic testing may be imperative for identifying MPC in endometrial cancer patients. For individuals with BRCA2 and other gene pathogenic variants, routine examination and monitoring of the endometrium, ovaries, breasts, and other sites prone to polygenic cancer are recommended.
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INTRODUCTION: DICER1 syndrome is a rare tumor predisposition syndrome caused by germline DICER1 mutation, which is related to a variety of benign and malignant diseases. Our report is the first described case of these three disease phenotypes of DICER1 syndrome. The female patient with a novel germline DICER1 nonsense mutation (c.1088_1089delCTinsAA p.F363X) in exon 8 that was inherited from her mother. In addition to germline DICER1 mutation, two different hotspot somatic DICER1 mutations were detected in her ovarian tissue and goiter tissue. Our report will expand the report of DICER1 mutations in DICER1-syndrome-related diseases and provide case references for further research in the future. CONCLUSION: When the related disease phenotype appears in childhood, it should be considered whether it is DICER1 syndrome. Genetic testing can help diagnose DICER1 syndrome and develop related surveillance strategies. Awareness of the DICER1 syndrome may result in early recognition of these rare pediatric tumors and appropriate therapeutic management.
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BACKGROUND: UCEC is the most common gynecological malignancy in many countries, and its mechanism of occurrence and development is related to tumor mutation burden (TMB) and immune cell infiltration. Therefore, it is necessary to systematically explore the TMB-related gene profile in immune cells to improve the prognosis of UCEC. METHODS: We integrated TMB-related genes with basic clinical information of UCEC patients based on TCGA dataset. Differentially expressed genes (DEGs) were selected through differential expression screening, PPI, and enrichment analysis. Additionally, we analyzed the components of immune cell infiltration of the DEGs to obtain the differential immunity-related genes. A single factor and multifactor Cox regression analyses were conducted to establish new prognostic indicators of OS and DFS based on TMB-related immune genes. To further study the correlation between survival and immune cell infiltration, a Cox model based on these immune infiltration compositions was built. Using the clinical variables, we established nomograms for OS and DFS. RESULTS: 393 DEGs were significantly associated with clinical outcomes and the immune component in patients with UCEC. Gene Ontology (GO) and Kyoto Encyclopedia of Genes, Genomes (KEGG) pathway and protein-protein interaction network (PPI) analyses revealed the role of these genes and information on related pathways. Then, two prognostic models were established based on the differential immune genes for OS (GFAP and MX2) and DFS (MX2, GFAP, IGHM, FGF20, and TRAV21). In DFS, the differential immune genes were related to CD4+ T cell, CD8+ T cell, macrophage, and neutrophil (all P < 0.05). B cell and CD8+ T cell were independent prognostic factors from among the immune cell elements in UCEC. Finally, the risk scores of these models were combined with the clinical elements-based nomogram models, and the AUC values were all over 0.7. CONCLUSIONS: Our results identified several clinically significant differential immune genes and established relevant prognostic models, providing a basis for the molecular analysis of TMB and immune cells in UCEC, and identified potential prognostic and immune-related genes for UCEC. We added clinical related conditions for further analysis to confirm the identity of the genes and clinical elements-based models.
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PURPOSE: The potential therapeutic benefits of lymphadenectomy in endometrial cancer (EC) patients are still ambiguous. Therefore, a population-based retrospective analysis was conducted to determine the association between lymphadenectomy and survival in elderly female patients with stage I endometrioid EC. METHODS: The Surveillance, Epidemiology, and End Results (SEER) program database was retrospectively analyzed, and data of 63,372 female patients with early-stage type I EC from 1988 to 2013 were collected. The main patient and tumor characteristics included marital status, age, ethnicity, time of diagnosis, tumor grade, radiotherapy, and lymphadenectomy status. Kaplan-Meier and Cox proportional hazard regression analyses were performed to determine the association between lymph node dissection and the overall survival (OS) and cancer-specific survival in women older than 50 years with stage I endometrioid EC. RESULTS: The majority (83.7%) of the patients who met the inclusion criteria for the study were older than 50 years. In both grade 1 and 2 patients aged over 50 years, lymph node conservation was associated with a higher mortality risk compared to lymphadenectomy (all P < 0.005). Multivariate analysis indicated that lymphadenectomy was an independent predictor of improved OS in early-stage type 1 EC patients, with hazard ratios of 0.893 and 0.827 for the grade 1 and grade 2 patients, respectively (P < 0.0001). CONCLUSIONS: Lymphadenectomy could improve long-term OS in women older than 50 years with grade 1 and 2 endometrioid EC.
