BMC Cancer最新文献

Background: The epidemiology and pattern of cancer in people with an intellectual disability is poorly documented. Emerging evidence reports that a different profile and trajectory of cancer burden is experienced in this population. The prevalence and incidence of cancer in this group have not been systematically synthesised. This review will address a significant gap in the evidence base.

Methods: The Joanna Briggs Prevalence and Incidence methodology was used to guide the conduct of this review. Reporting the review adheres to the PRISMA checklist. Observational studies reporting prevalence and incidence of cancer and cancer subtypes in adults with intellectual disability were identified through searches of Embase, MEDLINE, CINAHL, PsycINFO, Web of Science, and grey literature from database inception dates to May 2025. A modified JBI Critical Appraisal Checklist was used to assess study quality. Meta-analyses were completed using Meta-XL., with pooled estimates reported where appropriate and narrative synthesis provided for heterogeneous results.

Results: Two articles reported cancer prevalence and ten reported cancer incidences. The pooled prevalence was 2% (95% CI: 1-3%). Incidence estimates varied from 1.0 to 4.7% but were from studies with different designs and follow-up periods, limiting direct comparability. Overall, findings tentatively suggest a similar to lower overall cancer prevalence and incidence to the general population, but some studies reported higher rates of ovarian, testicular and unknown primary cancers. The methodological quality of most (n = 11) studies was high. Meta-analyses showed substantial statistical heterogeneity for included incidence studies reflecting methodological and clinical differences.

Conclusions: Comparisons across studies are limited by heterogeneity in definitions of intellectual disability, study settings and cancer case identification. Challenges in synthesising cancer data in this population highlight the urgent need to identify people with intellectual disabilities at a population level and in cancer registries to help develop evidence that supports policy and practice in this area. Robust evidence is needed to inform clinical decision-making and policy development as the current epidemiological evidence is currently insufficient for this purpose.

Dysregulation of 5-Hydroxytryptamine and its receptors play important roles in the development and progression of malignant tumors. However, the biological role and underlying molecular mechanism of 5-Hydroxytryptamine Receptor 1D (HTR1D) gastric cancer (GC) remains poorly understood. In this study, we identified that HTR1D was significantly upregulated in GC and can serve as a diagnostic biomarker. High HTR1D expression correlates clinically with poor differentiation and worse prognosis in GC. Gain- and loss-of-function studies demonstrated that HTR1D positively regulated GC cell proliferation, migration, and angiogenesis in vitro and in vivo. RNA sequencing and qRT-PCR assays indicated that HTR1D knockdown significantly inactivated the WNT/β-catenin signaling pathway. Rescue experiments using CHIR-99,021, a known WNT/β-catenin pathway activator, confirmed that HTR1D knockdown inhibited GC invasion by inactivating the WNT/β-catenin pathway. In conclusion, HTR1D overexpression promotes GC progression via activation of the WNT/β-catenin signaling. Our findings highlight HTR1D as an oncogene in GC and suggest that targeting 5-HT1D could serve as a promising therapeutic strategy for GC.

Background: Hepatocellular carcinoma (HCC) is a common malignant tumor worldwide, with complex pathogenesis and poor clinical prognosis. It was shown that hepatocyte nuclear factor 1β (HNF1B) is strongly expressed in hepatocyte and involved in liver development. Relevant studies have shown that HNF1B can be used as a marker for the identification of hepatocellular cholangiocarcinoma. However, regarding the mechanism by which HNF1B regulates the behavior of cancer cells to influence the development, malignancy and metastasis ability of HCC, is poorly understood at present.

Methods: In this study, the proliferation, migration, invasion, and apoptosis of liver cancer cells was investigated by modulating the expression of HNF1B in HCC cells. Furthermore, bioinformatics analysis: including differential gene and survival analysis, clinical relevance, GO/KEGG enrichment, immune cell infiltration, gene pathway prediction and PPI network analysis were applied to explore the mechanism of HNF1B to influence the development, malignancy and metastasis of HCC.

Results: Our results indicated that over-expression of HNF1B promoted the proliferation (*P < 0.05), migration (***P < 0.001) and invasive (**P < 0.01) ability of HCC cells, while significantly inhibited apoptosis. Importantly, overexpression of HNF1B may be associated with the transformation process from hepatocellular carcinoma (HCC) to intrahepatic cholangiocarcinoma (ICC) (****P < 0.0001). Bioinformatics analysis showed that HNF1B increased tumor cell heterogeneity by remodeling in the tumor microenvironment including immune cell infiltration, cell adhesion, and extracellular matrix. Moreover, HNF1B regulates the transformation of HCC to ICC through Notch, Hippo and neuroactive ligand-receptor interaction signaling pathways.

Conclusions: Our study elucidated the functional roles of HNF1B on regulating the biological behavior of HCC cells, suggesting that HNF1B could be an important molecular marker of HCC. This finding provides a potential molecular target for the diagnosis and prognosis of HCC.

Background: Sarcopenia, characterized by a loss of skeletal muscle mass and function, is a poor prognosis risk factor in various cancers. Diagnosis typically involves quantifying skeletal muscle area at the L3 vertebral level (SMA) using CT imaging, however a universally accepted definition of sarcopenia does not exist.

Methods: In a retrospective, multicenter study, we analyzed data from 87 muscle-invasive bladder cancer patients who received neoadjuvant chemotherapy followed by radical cystectomy. Artificial intelligence (AI) was used to evaluate CT scans obtained before chemotherapy (BC) and before surgery (BS), focusing on the L3 vertebral level. Sarcopenia was defined using four distinct criteria from the existing literature. The primary objective of this study was to assess the reliability of AI-based versus manual measurements of sarcopenia while secondary endpoints included, overall survival (OS), progression-free survival (PFS), and the impact of undernutrition and neutrophil-to-lymphocyte ratio (NLR) on OS.

Results: 87 patients were included in the final analysis. AI-based SMA measurements were highly correlated with manual measurements (r = 0.95; p < 0.001). Sarcopenia BC and BS, as defined by the Pardo criteria, was significantly associated with poorer OS (Prado BC: HR 2.26, 95% CI 1.05-4.89, p = 0.04 and Prado BS: HR 2.10, 95% CI 1.01-4.37, p = 0.048). Sarcopenia BS, defined by Caan was also associated with worse OS (HR 2.15, HR 1.02-4.56, p = 0.04). Both NLR ≤ 4 BS and undernutrition were strongly associated with reduced OS (HR 3.33; 1.49-7.46, p = 0.003 BC and HR 2.85; 95% CI 1.3-6.3, p = 0.003, respectively).

Conclusion: AI-based assessment of sarcopenia is feasible, reliable, and reproducible. Sarcopenia according to Prado's criteria is associated with mortality in bladder cancer. Further multivariable validation in larger patient populations is needed to determine the prognostic value of AI-based body composition analysis.

Background and objective: Several studies have reported the prognostic significance of blood cells in patients with esophageal squamous cell carcinoma (ESCC); however, the relationship between blood cells and the efficacy and prognosis of neoadjuvant immunotherapy combined with chemotherapy in the treatment of ESCC has not been evaluated.In this study, we aimed to elucidate the predictive value of response and prognostic value of peripheral blood cells for neoadjuvant immunotherapy combined with chemotherapy in patients with ESCC.

Methods: A total of 91 patients with ESCC (clinical stage II-IVA) who underwent neoadjuvant immunotherapy combined with chemotherapy (nICT) followed by surgery were enrolled in this study. A comparative analysis was performed to determine whether the pathological response after treatment was pathological complete response (PCR) and to establish the pathological regression grading.

Results: The pathological complete response rate (PCR) was 22%, and more than half (52%) of the tumor regression grades assessed after neoadjuvant therapy responded well demonstrating significant tumor regression. A pathological complete response was strongly associated with the number of lymphocytes in the blood before treatment (p = 0.018). The efficacy response was strongly correlated with the number of erythrocytes in the blood before treatment (p = 0.011).Patients with a low red blood cell (RBC) count had a better 3-year disease free survival (DFS) than those with a high RBC(95.2% vs. 45.9%, P < 0.05).

Conclusions: Pretreatmentment Lymphocytes ≥ 1.845 × 10⁹/L were found to have a good predictive effect on the PCR and RBCs < 4.31 × 10¹²/L were reflective of better tumor regression grades. Therefore, RBCs < 4.31 × 10¹²/L may serve as a surrogate marker of better prognosis in patients who have undergone nICT followed by esophagectomy.

Metastatic, drug-resistant ovarian cancer is the deadliest form of gynecological cancer afflicting women globally, with > 49% relapse rate following initial diagnosis, surgery and treatment. High-grade serous ovarian cancer is the most diagnosed type of ovarian cancer. In the USA, 21,000 patients are diagnosed annually, with > 50% of patients succumbing to the disease due to metastasis and treatment resistance. The mainstay treatment for ovarian cancer is platinum-based chemotherapy, such as cisplatin or carboplatin and in combination with a taxane (paclitaxel/docetaxel). However, patients often become resistant to it, due to the pervasive oncogenic signal driving cancer drug resistance. One such oncogene is c-MYC. 30-60% of high-grade serous and drug-resistant (paclitaxel and carboplatin) ovarian cancer overexpress c-MYC, leading to progressive disease and mortality. Herein, it was shown that the novel c-MYC mRNA drug 3'UTRMYC1-18 achieved a dose-dependent titratable downregulation of the c-MYC mRNA with a half-maximal inhibitory concentration superior to the standard-of-care drugs, and with anti-cancer migration and viability properties. By using patient-derived xenograft (PDX) in-vivo, it was shown that the c-MYC mRNA drug significantly inhibited ovarian cancer through the downregulation of c-MYC, programmed death-ligand 1, paired box gene 8 and p21. This drug provides a novel therapy to target drug-resistant ovarian cancer cells.

Background: Advanced hepatoid adenocarcinoma of stomach still lacks effective and standardized treatment options. This study aims to explore the therapeutic value of translational therapy in advanced hepatoid adenocarcinoma of stomach.

Methods: We conducted a retrospective analysis of 37 patients with advanced hepatoid adenocarcinoma of stomach who successfully underwent translational therapy followed by surgical intervention between October 2009 and October 2024. Through survival analysis and Cox regression, we identified the clinicopathological factors that significantly impact patient prognosis.

Results: The median survival time of 37 patients was 39.0 months. 70.3% of patients achieved R0 resection, with an average OS 93.8 months and a 5-year survival rate of 64.4%. And 10.8% of patients achieved pathological complete remission, with an average OS of 65.7 months and a 5-year survival rate of 100%. Additionally, radical surgery, pM stage, cytology, and surgery type were identified as independent risk factors influencing the prognosis of patients.

Conclusion: Translational therapy is a promising strategy for patients with initially unresectable advanced hepatoid adenocarcinoma of stomach. Achieving R0 resection and attaining pathological complete remission are crucial milestones in improving patient prognosis.