Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing
Yanira Ruiz-Heredia, Beatriz Sánchez-Vega, Esther Onecha, Santiago Barrio, Rafael Alonso, Jose Carlos Martínez-Ávila, Isabel Cuenca, Xabier Agirre, Esteban Braggio, Miguel-T Hernández, Rafael Martínez, Laura Rosiñol, Norma Gutierrez, Marisa Martin-Ramos, Enrique M Ocio, María-Asunción Echeveste, Jaime Pérez de Oteyza, Albert Oriol, Joan Bargay, Mercedes Gironella, Rosa Ayala, Joan Bladé, María-Victoria Mateos, Klaus M Kortum, Keith Stewart, Ramón García-Sanz, Jesús San Miguel, Juan José Lahuerta, Joaquín Martinez-Lopez
Multiple myeloma (MM) is a hematologic neoplasm that develops after transformation and excessive growth of plasma cells in the bone marrow. MM is characterized by heterogeneous genetic abnormalities and an extensive range of clinical outcomes.21
The marked variability of responses and the limited clinical prognostic value of the current genetic information justify the need to identify new biomarkers of response and develop personalized medicine strategies.3
The recent introduction of next-generation sequencing technologies has considerably advanced our understanding of the biological features of MM.64 Accordingly, we used a targeted deep sequencing panel, applying the highest read depth to date, to detect minor subclones and evaluated their impact on response to treatment.
We also integrated these data with the clinical features of a very homogeneous cohort of patients to unearth new patterns of genetic alterations and gain new insights into the complexity of the clonal and subclonal architecture of MM.