Discover. Oncology最新文献

Background: The transformation of myelodysplastic syndromes (MDS) into acute myeloid leukemia (AML) is common, while it is extremely rarely for acute lymphoblastic leukemia (ALL) transformation. Herein, we described the clinical and cytogenetic features of a case of MDS with del(20q) transformed into B-lineage ALL (B-ALL) remaining with del(20q).

Case presentation: A 66-year-old Chinese man who presented with pancytopenia, bone marrow hypercellularity and obvious megakaryocytes dysplasia were admitted for treatment. Karyotype analysis of leukemic cells revealed the clonal abnormality of del(20q) and he was diagnosed with MDS carrying del(20q). He was administrated with Danazol, cyclosporin A, and lenalidomide for 3 months, and then discontinued due to poor efficacy, severe swelling and aching of gum. He was subsequently treated with Chinese herbs and uninterrupted platelet infusion. After 41 months, this patient evolved into B-ALL. Cytogenetics demonstrated that in addition to the previous abnormality of del(20q), an emerging clonal abnormality of + 21 was observed. Unfortunately, the patient failed to achieve remission after receiving conventional treatment and other symptomatic supportive treatment.

Conclusion: This study reported a rare case of B-ALL with del(20q) following MDS with del(20q), and conducted a literature review to explore the clinical features and potential mechanisms of disease transformation in patients with MDS progression to ALL. Collectively, this study will help enrich the knowledge of MDS progression to ALL.

Objective: In light of the incompletely defined metastatic patterns inherent to rhabdomyosarcoma (RMS), our objective was to analyze the clinicopathological attributes of various metastatic sites in patients afflicted with RMS. Additionally, we sought to identify population-level risk factors that contribute to metastasis in patients.

Methods: Utilizing data from the Surveillance, Epidemiology, and End Results (SEER) database spanning from 2000 to 2017, our study included a cohort of 1,300 patients diagnosed with RMS, each presenting with specific instances of metastasis. Statistical comparisons of categorical variables between groups were conducted using the chi-squared test or Fisher's exact test. Survival curves were constructed employing the Kaplan-Meier method and their comparative analysis was conducted using the log-rank test. Identification of the risk factors associated with site-specific metastasis in patients diagnosed with RMS was undertaken through the application of multivariate logistic regression analysis.

Results: The observed incidence rates of metastasis to the lung, bone, liver, and brain among patients diagnosed with RMS were 13.1, 12.3, 2.5, and 1.2% respectively. The presence of lung, bone, liver, and brain metastases in patients with RMS was associated with a statistically significant reduction in cancer-specific survival. Factors indicative of increased risk for the development of lung metastasis in patients with RMS include male gender (in comparison to female), larger tumor volume, and tumor location in unfavorable sites (as compared to favorable sites). Risk factors for the occurrence of bone metastasis were male (as compared to female), larger tumor volume, and alveolar RMS (as compared to embryonal RMS). The median CSS for patients diagnosed with RMS and presenting with lung, bone, liver, and brain metastases were 15, 19, 5, and 8 months, respectively.

Conclusion: Through an analysis of site-specific metastasis in patients diagnosed with RMS, we identified risk factors associated with lung and bone metastasis. These findings are of considerable significance for clinicians, are of considerable significance during the pre-treatment evaluation phase. The application of these findings has the potential to extend the survival duration of patients with RMS.

Background: The Golgi apparatus (GA) serves as the center of protein and lipid synthesis and modification within cells, playing a crucial role in regulating diverse cellular processes as a signaling hub. Dysregulation of GA function can give rise to a range of pathological conditions, including tumors. Notably, mutations in Golgi-associated genes (GARGs) are frequently observed in various tumors, and these mutations have been implicated in promoting tumor metastasis. However, the precise relationship between GARGs and glioma, a type of brain tumor, remains poorly understood. Therefore, the objective of this investigation was to assess the prognostic significance of GARGs in glioma and evaluate their impact on the immune microenvironment.

Methods: The expression of GARGs was obtained from the TCGA and CGGA databases, encompassing a total of 1564 glioma samples (598 from TCGA and 966 from CGGA). Subsequently, a risk prediction model was constructed using LASSO regression and Cox analysis, and its efficacy was assessed. Additionally, qRT-PCR was employed to validate the expression of GARGs in relation to glioma prognosis. Furthermore, the association between GARGs and immunity, mutation, and drug resistance was investigated.

Results: A selection of GARGs (SPRY1, CHST6, B4GALNT1, CTSL, ADCY3, GNL1, KIF20A, CHP1, RPS6, CLEC18C) were selected through differential expression analysis and Cox analysis, which were subsequently incorporated into the risk model. This model demonstrated favorable predictive efficiency, as evidenced by the area under the curve (AUC) values of 0.877, 0.943, and 0.900 for 1, 3, and 5-year predictions, respectively. Furthermore, the risk model exhibited a significant association with the tumor immune microenvironment and mutation status, as well as a diminished sensitivity to chemotherapy drugs. qRT-PCR analysis confirmed the up-regulation or down-regulation of the aforementioned genes in glioma.

Conclusion: The utilization of GARGs in our constructed model exhibits a high level of accuracy in prognosticating glioma and offers promising avenues for the development of therapeutic interventions targeting glioma.

Background: Studies have indicated a potential relationship between gut microbiota and renal cell carcinoma. However, the causal relationship between various types of gut microbiota and renal cell carcinoma, as well as the role of inflammatory protein as mediators, remains unclear.

Methods: This study aimed to identify the relationship between gut microbiota, inflammatory protein, and renal cell cancer through a large-scale genome-wide association study (GWAS) utilizing pooled data. We employed Mendelian randomization (MR) to investigate the causal relationship among these variables. Inverse variance weighting (IVW) was utilized as the primary statistical method. Furthermore, we examined the mediating role of inflammatory protein in the pathway through which gut microbiota influences the development of renal cell cancer.

Results: The analysis revealed 12 positive causal relationships and 15 negative causal relationships between the genetic liability of gut microbiota and renal cell cancer. Furthermore, there were three positive causal relationships and one negative causal relationship between inflammatory proteins and renal cell cancer. There were two axes of relationships in which gut microbiota promote the development of renal cell cancer. through inflammatory proteins acting as mediators.

Conclusions: Gut microbiota and inflammatory protein were causally related to renal cell cancer, and inflammatory protein were intermediary factors in the pathway between gut microbiota and renal cell cancer.

This study analyzes the research landscape of nanomaterials in treating hepatocellular carcinoma (HCC) and examines publication trends in this field by conducting a comprehensive bibliometric analysis within the Web of Science Core Collection (WoSCC) database. Articles published from 2000 to September 16, 2024 were retrieved using a structured search formula targeting studies on nanomaterials in HCC, including nanoparticles, nanodots, nanorods, nanosheets, and nanomedicine. Only English full-text articles and reviews relevant to nanomaterial applications in HCC were considered, excluding conference abstracts and non-research items. The analysis encompasses annual publication trends, country-wise publication distribution, prominent institutions, and key journals in the field. Statistical and graphical analyses were performed using GraphPad Prism (v8.0.2) to illustrate publication trends. CiteSpace (6.2.4R) and VOSviewer (1.6.18) software were used to visualize co-citation and keyword networks, highlighting scientific knowledge structures and research hotspots. Notable advancements have emerged as a promising strategy, enabling hepatocyte-specific drug delivery to enhance therapeutic precision and minimize off-target effects. This analysis provides a comprehensive understanding of the evolution of HCC nanomaterials research, key contributing countries, major research institutions, and frequently cited keywords. The findings offer valuable insights into the field's knowledge base, emerging trends, and future directions in HCC treatment with nanomaterials.

Objectives: To evaluate the efficacy and safety of thermal ablation (TA) for follicular thyroid neoplasms (FTN) ≤ 3 cm.

Methods: This retrospective multicenter study enrolled 161 patients (131 females; mean age, 46 ± 15 years [range, 11-86]) who underwent TA for FTN ≤ 3 cm between January 2014 and October 2023 from eight centers in China. The median follow-up time was 12 months (IQR, 12-24 months). Based on the maximum diameter (MD) of the nodule, patients were divided into two groups: Group 1 (MD ≤ 2 cm) and Group 2 (2 < MD ≤ 3 cm). Post-ablation assessments encompassed evaluations of tumor size and volume changes, technical success rate, tumor disappearance, disease progression, complications, and risk factors associated with recurrent laryngeal nerve (RLN) injury.

Results: All patients underwent complete ablation in a single session. The technical success rate was 100%. The mean volume reduction rate (VRR) of the ablation zone at 12 months was 78.11%. The VRR at 12 months was higher in Group 1 than that in Group 2 (Median VRR, 93.8% vs. 82.8%; P = 0.019). The complete tumor disappearance rate was 15.5% (25/161). Smaller tumors have a higher tumor disappearance rate (Group 1 vs Group 2 = 27.6% vs. 4.7%; P < 0.001). The disease progression rate was 2.5% (4/161), with no significant difference between Group 1 and Group 2 (P = 0.535). The complication rate was 3.1% (5/161), with no significant difference between Group 1 and Group 2 (P = 0.899). No risk factors were identified for RLN injury.

Conclusions: Thermal ablation is an effective and safe treatment option for patients with FTN ≤ 3 cm.

Background: Dysbindin domain-containing 1 (DBNDD1) is strongly connected with the occurrence and development of malignancies, but the DBNDD1 function and mechanism in invasive breast cancer (IBC) remain poorly understood. Our objective was to ascertain the possible diagnosis and prognostic importance of DBNDD1 in IBC.

Method: An analysis was done to ascertain the connection between the DBNDD1 expression level in IBC and clinicopathological features employing the relevant databases, and to evaluate DBNDD1 in the diagnosis and prognosis of IBC. We explored possible cellular mechanisms and biological functions as well as explored DBNDD1-related interacting proteins, analyzed DBNDD1 methylation status, and investigated its correlation with immune cell infiltration. The effect of DBNDD1 on the function of breast cancer (BC) cells was studied in vitro.

Result: DBNDD1 mRNA and protein levels exhibited higher expression in IBC, and were significantly correlated with a worse outcome. DBNDD1 hypomethylation status was linked to a negative prognosis. Enrichment analysis revealed that the genes exhibiting a positive correlation with DBNDD1 expression were mostly enriched in pathways linked to DNA synthesis and DNA methylation. Furthermore, the DBNDD1 expression level exhibited a substantial correlation with the immune cell infiltration in tissue. DBNDD1 overexpression emerged to enhance the BC cell's proliferation, invasion and migration as well as suppress the BC cell's apoptosis, as validated by in vitro tests.

Conclusion: DBNDD1 upregulation is directly linked to the tumor immune cell infiltration and the unfavorable IBC prognosis. DBNDD1 possesses the capacity to be a biomarker for diagnosing and predicting the outcome of a disease, as well as a possible target for therapeutic interventions in IBC.

Background: Autophagy activation contributes to chemotherapy resistance in several cancers, including ovarian cancer. Hydroxychloroquine (HCQ) is an autophagy inhibitor inhibiting the fusion of the autophagosome with the lysosome and has been repurposed as an anti-cancer agent. In this randomized phase II study, we used HCQ in combination with standard chemotherapy in platinum sensitive relapsed ovarian cancer (PSROC) patients.

Methods: Patients were randomized in a 1:1 ratio to receive standard chemotherapy (carboplatin with paclitaxel/gemcitabine) with or without HCQ. Those randomized to receive HCQ received additional HCQ 200mg orally twice daily. The primary endpoint was the overall response rate (ORR). Other endpoints included survival outcomes, changes in autophagy biomarkers, toxicity, and quality of life.

Results: A total of 59 patients were enrolled- chemotherapy + HCQ (N = 28), chemotherapy alone (N = 31), and 56 were evaluable ( received ≥ 3 cycles treatment). The ORR was not superior with the addition of HCQ [85% (22/26) in the experimental arm as compared to 80% (24/30)  in the control arm, chi-square test, P = 0.65]. The median progression-free survival was 12 (95% CI, 9.75-14.24) months for the experimental arm and 11 (95% CI, 5.25-16.74) months for the control arm (P = 0.56) , and the median overall survival was 16 (95% CI, 8.54-23.45) months vs. 21 (95% CI, 11.70-30.59 ) months (P = 0.49) respectively. HCQ was well tolerated, with no excess adverse events [21 (75%) in the experimental arm vs. 22 (71%) in the control arm]. There were no substantial differences in the reduction of autophagy biomarker levels and QOL between the control and experimental arms.

Conclusion: Adding HCQ to chemotherapy failed to improve response rates or survival in patients with PSROC. Conducting biomarker-stratified clinical trials might show the potential benefit of HCQ. Trial registration number (TRN): The trial was registered in the Clinical Trial Registry of India ( www.ctri.nic.in ; CTRI/2020/06/025790) on 17th June 2020.

Background: Circular RNAs (circRNAs) are increasingly recognized for their potential as cancer biomarkers. Although various studies have investigated the biological function of ciRS-7 and circHIPK3 in malignant tumors, their prognostic value in pan-cancer has not been systematically analyzed.

Methods: We systematically searched the PubMed, Web of Science, and Cochrane Library databases from January 1, 1990, to October 14, 2024. The impact of ciRS-7 or circHIPK3 on prognostic outcomes, including overall survival (OS) and disease-free survival (DFS), was assessed by pooled hazard ratios (HR). The association between CiRS-7 or circHIPK3 and clinical features was evaluated using odds ratios (OR). The Data analysis was conducted using Review Manager 5.4.

Results: For most cancers, our meta-analysis of 14 studies (N = 2140) and 15 studies (N = 1045) showed that high ciRS-7 and circHIPK3 were associated with worse OS. Pooled analysis of 5 studies (N = 421) and 2 studies (N = 248) indicated that high ciRS-7 and circHIPK3 were also associated with shorter DFS. Additionally, high ciRS-7 and circHIPK3 expression were associated with worse histological grade, higher TNM stage, larger tumor size, more lymph node and distant metastasis.

Conclusion: High ciRS-7 and circHIPK3 were significantly associated with poor prognosis and advanced clinical features in most cancers, suggesting their potential as prognostic biomarkers.