Genomic Score as a Predictor for Progression in Multiple Myeloma Patients

A groundbreaking study by researchers from the Dana-Farber Cancer Institute, the Broad Institute of MIT and Harvard, and Massachusetts General Hospital introduces a novel genomic scoring system that enhances our understanding of the development and progression of multiple myeloma, a type of blood cancer. This innovative approach involves analyzing DNA mutations to distinguish the transition from precancerous to malignant states. The risk assessment tool, dubbed the MM-like score, evaluates disease severity and helps predict the likelihood of progression to active cancer. Higher scores correlate with a faster disease progression, which could significantly influence clinical decision-making and early intervention strategies.

The study highlights that patients often go through precursor stages such as monoclonal gammopathy of undetermined significance (MGUS) or smoldering multiple myeloma (SMM) before developing full-blown multiple myeloma. Approximately 1 to 10% of these patients progress annually, with high-risk cases advancing within two years. Currently, existing risk models primarily measure tumor burden and overlook genomic factors, which are crucial for understanding disease evolution.

By employing whole-genome sequencing of over 1,000 individuals, including 218 with MGUS or SMM, the researchers identified genetic mutations associated with disease transformation. The MM-like score quantifies the accumulation and progression of these mutations over time, providing a more nuanced risk assessment. Validation of the score through analyzing tumor samples from patients at various disease stages demonstrated its accuracy in predicting disease course.

Surprisingly, the research suggests that the earliest genetic alterations linked to multiple myeloma may occur early in life, possibly in a patient's 20s or 30s, even though diagnosis typically happens much later. The team is now working on developing liquid biopsy-based tests for easier, more frequent monitoring of disease progression. Ongoing validation efforts aim to refine the score further, which promises to enable personalized patient management and targeted early interventions.

This innovative genomic approach marks a significant step forward in precision medicine for multiple myeloma, offering hope for improved patient outcomes through early detection and intervention strategies.

Source: https://medicalxpress.com/news/2025-05-genomic-score-patients-multiple-myeloma.html