BioData Min. 2025 Jun 12;18(1):40. doi: 10.1186/s13040-025-00455-8.
ABSTRACT
Neuroblastoma is a common pediatric cancer that affects thousands of infants worldwide, especially children under five years of age. Although recovery for patients with neuroblastoma is possible in 80% of cases, only 40% of those with high-risk stage four neuroblastoma survive. Electronic health records of patients with this disease contain valuable data on patients that can be analyzed using computational intelligence and statistical software by biomedical informatics researchers. Unsupervised machine learning methods, in particular, can identify clinically significant subgroups of patients, which can lead to new therapies or medical treatments for future patients belonging to the same subgroups. However, access to these datasets is often restricted, making it difficult to obtain them for independent research projects. In this study, we retrieved three open datasets containing data from patients diagnosed with neuroblastoma: the Genoa dataset and the Shanghai dataset from the Neuroblastoma Electronic Health Records Open Data Repository, and a dataset from the TARGET-NBL renowned program. We analyzed these datasets using several clustering techniques and measured the results with the DBCV (Density-Based Clustering Validation) index. Among these algorithms, DBSCAN (Density-Based Spatial Clustering of Applications with Noise) was the only one that produced meaningful results. We scrutinized the two clusters of patients’ profiles identified by DBSCAN in the three datasets and recognized several relevant clinical variables that clearly partitioned the patients into the two clusters that have clinical meaning in the neuroblastoma literature. Our results can have a significant impact on health informatics, because any computational analyst wishing to cluster small data of patients of a rare disease can choose to use DBSCAN and DBCV rather than utilizing more common methods such as k-Means and Silhouette coefficient.
PMID:40506780 | DOI:10.1186/s13040-025-00455-8