Comprehensive Genetic Profiling in Multiple Myeloma and Plasma Cell Disorders

This groundbreaking observational study employs advanced genetic sequencing techniques to analyze 1,500 gene exomes in patients with multiple myeloma and related plasma cell malignancies. The research aims to create a comprehensive genetic profile by comparing cancerous cells with normal cells, utilizing both exome analysis and transcriptome sequencing.

The study will identify various genetic alterations including:

• Point mutations
• Insertions/deletions
• Gene fusions and rearrangements
• Amplifications/deletions
• Outlier expressed genes

With an estimated enrollment of 1,000 participants, the study focuses on adult patients (18+ years) diagnosed with multiple myeloma or related conditions such as smoldering myeloma, MGUS, plasma cell leukemia, plasmacytoma, or amyloidosis. Participants must be undergoing standard bone marrow aspirates and provide informed consent.

The primary outcome measures will deliver an actionable mutations report within 10-14 days, while secondary outcomes track overall survival rates and time to disease progression. Led by Dr. Leif Bergsagel at Mayo Clinic and sponsored by the Multiple Myeloma Research Foundation, this prospective study runs from 2015 through 2026.

Exclusion criteria include pregnancy, incarceration, recent other malignancies (except certain skin/cervical cancers), and physician-determined unsuitability for bone marrow procedures. This research promises to significantly advance our understanding of plasma cell malignancies and potentially identify new therapeutic targets.