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Objective: To investigate the relationships between pediatric neuroblastoma outcomes, tumor ploidy, and ethnicity, focusing on disparities in overall survival (OS) while also accounting for race and ethnicity.
Methods: Clinical and tumor ploidy data for 63 Hispanic White, 561 non-Hispanic White, and 86 non-Hispanic Black patients were obtained from cBioPortal for Cancer Genomics (TARGET [Therapeutically Applicable Research to Generate Effective Treatments], 2018). Kaplan Meier survival curves were analyzed using log-rank and Gehan-Breslow Wilcoxon tests. Hazard ratios (HR) with 95% CIs were calculated using the Mantel-Haenszel method. Associations between ethnicity and tumor ploidy were assessed using the chi-square test.
Results: Significant differences in overall survival (OS) were observed between White patients who self-identified as Hispanic and those who identified as non Hispanic, with Hispanic patients exhibiting worse outcomes. (P = .0076, HR = 1.907, 95% CI: 1.187-3.062). Median survival for Hispanic patients was 94 months but was undefined for non-Hispanic patients. Diploid tumors were associated with worse outcomes than hyperdiploid tumors were (P < .0001, HR = 2.291, 95% CI: 1.689-3.109). The chi square test revealed a significant association between ethnicity and tumor ploidy (χ2 = 4.220, P = .0400), with non-Hispanic patients having a higher proportion of hyperdiploid tumors (66.99%) than Hispanic patients (53.97%).
Conclusion: Hispanic White patients with neuroblastoma had lower OS than did non-Hispanic White patients, partly due to the former having a higher proportion of diploid tumors. These findings highlight the importance of considering ethnicity and tumor ploidy in risk stratification and treatment strategies.
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Adv Sci (Weinh)
September 2025
Key Laboratory of Multi-Cell Systems, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, 200031, China.
Maintaining cellular ploidy is critical for normal physiological processes, although gains in ploidy are frequently observed during development, tissue regeneration, and metabolism, and potentially contribute to aneuploidy, thereby promoting tumor evolution. Although numerous computational tools have been developed to estimate cellular ploidy from whole-genome sequencing (WGS) data at bulk or single-cell resolution, to the knowledge, no systematic comparison of their performance has been conducted. Here, a benchmarking study is presented of 11 methods for bulk WGS and 8 methods for single-cell WGS data, utilizing both experimental and simulated datasets derived from diploid cells mixed with aneuploid or polyploid cells.
View Article and Find Full Text PDFPediatr Int
September 2025
Department of General and Gastroenterological Surgery, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Background: Most patients with trisomy 18 (18T) die of cardiac or other severe anomalies within the first few years. Although surgical intervention for cardiac lesions or other diseases has improved these patients' prognoses in recent years, some survivors face the risk of developing neoplasms, such as hepatoblastoma. However, the treatment strategy remains controversial because of the poor prognosis.
View Article and Find Full Text PDFMedComm (2020)
September 2025
Somatic retinoblastoma 1 () loss is prevalent across different cancer types and is enriched in treatment-refractory tumors, such as castration-resistant prostate cancer (CRPC) and small-cell lung cancer, but cannot be considered as a direct druggable target. In this study, we revealed that the close proximity of nudix hydrolase 15 () and may result in their common somatic codeletion or epigenomic cosilencing in different cancer types and subsequent significant positive correlations of their expressions at the bulk transcriptional and single-cell levels. With clinical CRPC samples, co-loss of and were commonly observed (14 out of 21).
View Article and Find Full Text PDFDiscov Oncol
August 2025
Department of Medical Laboratory Techniques, Nasiriyah Technical Institute, Southern Technical University, Nasiriyah, 64001, Iraq.
Protein phosphatases are essential regulators of cellular signalling, yet their tissue-specific expression profiles and functional roles in cancer remain underexplored. This study aimed to systematically profile protein phosphatases expression across human tissues and malignancies to identify potential biomarkers. The transcriptomic data from GTEx, FANTOM, and HPA, were analysed assessing 265 protein phosphatases across 60 human tissues.
View Article and Find Full Text PDFBMC Endocr Disord
August 2025
Department of Ophthalmology of the Sixth Affiliated Hospital, School of Medicine, South China University of Technology, No. 120 Guidan Road, Foshan, 528200, Guangdong Province, China.
Background: 18p deletion (18p-) syndrome is a rare chromosomal abnormality with a wide range of phenotypes. Its main clinical features are short stature, intellectual disability, and facial dysmorphism, which are rarely accompanied by autoimmune thyroid disease (ATD) or pituitary abnormalities. Herein, we report the first Chinese patient with a de novo 18p deletion who presented with ATD and non-functioning pituitary adenoma.
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