Jorge Monge

Targeted sequencing using a 47 gene multiple myeloma mutation panel (M3P) in -17p high risk disease

We constructed a multiple myeloma (MM)‐specific gene panel for targeted sequencing and investigated 72 untreated high‐risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high‐risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM.

Myeloma: classification and risk assessment.

Multiple myeloma (MM) is a heterogeneous disease for which several new treatments are available. Much has been learned about its biology over the past 15 years. We now understand that there are various subtypes of the disease, each one associated with different outcomes and clinical pathological features. While a detailed classification of the disease into at least seven or eight major subtypes is possible, a practical clinical approach classifies the disease into high-risk and not-high-risk MM. This classification has allowed for tailored approaches to therapy and treatment planning. Furthermore, the discussion of outcomes with patients should include risk stratification, as the prospects for survival are quite different depending on whether the patient has high-risk MM or not. The tools for measuring risk subcategory are widely available and now routinely employed in the clinic. The continued search for genetic abnormalities that underlie the biology of MM may allow for even better precision therapy in the future.

Staging and prognostication of multiple myeloma

Multiple myeloma (MM) is a heterogeneous disease that, over the past 15 years, has seen an increased understanding of its biology and of novel therapeutic options. Distinctive subtypes of the disease have been described, each with different outcomes and clinic-pathological features. Even though a detailed classification of MM into at least seven or eight major subtypes is possible, a more practical clinical approach can classify the disease into high-risk and non-high-risk MM. Such classification has permitted a more personalized approach to the management of the disease. Additionally, risk stratification should be included in outcome discussions with patients, as survival differs significantly by high-risk status. Nowadays, test for risk stratification are widely available and can be routinely used in the clinic. A greater understanding of the genetic abnormalities underlying the biology of MM will allow for the development of novel targeted therapies and better prognostic markers of the disease.

Predicting multiple myeloma disease activity by analyzing natural calcium isotopic composition

Predicting multiple myeloma disease activity by analyzing natural calcium isotopic composition

Genetic factors and pathogenesis of waldenström's macroglobulinemia

Waldenström’s macroglobulinemia (WM) is an indolent but incurable B-cell malignancy. Over the last decade, advances in the molecular field brought about by the use of high-throughput genomic analyses—including array-based comparative genomic hybridization and massively parallel genome sequencing—have considerably improved our understanding of the genetic basis of WM. Its pathogenesis, however, remains fragmented. Important steps have been made in elucidating the underlying aberrations and deregulated mechanisms of the disease, and thereby providing invaluable information for identifying biomarkers for disease diagnosis, risk stratification, and therapeutic approaches. We review the genetic basis of the disease.