Genomic Markers Show the Risk of Progression for Smoldering Multiple Myeloma

According to the ASCO Post, researchers have discovered genomic characteristics of smoldering multiple myeloma that can tell one’s risk of progression to multiple myeloma. Dr. Mark Bustoros and his team found that it is possible to see the drivers of disease progression at the same time one is diagnosed with smoldering multiple myeloma. This can help doctors to make better treatment plans and give better outcomes to patients.

About Smoldering Multiple Myeloma

Smoldering multiple myeloma is a precancerous condition that leads to multiple myeloma. Doctors can see an accumulation of proteins in the blood and urine, which will lead them to a diagnosis. The buildup occurs due to malignant plasma cells, as they secrete the proteins into the blood or urine. This condition can be very difficult to diagnose, as it is often asymptomatic. Affected individuals may experience lesions on the spine, slight anemia, and bone damage in one area of the body. If a diagnosis is obtained, treatment often consists of monitoring progression. Lenalidomide may be prescribed to slow progression.

About Multiple Myeloma

Multiple myeloma is a form of cancer that affects plasma cells. Malignant plasma crowds the bone marrow, leaving no room for healthy blood cells. This results in the production of M proteins, which are abnormal antibodies. Medical professionals are unsure as to why these cells become malignant, but they have observed that many of the malignant cells seem to be missing some or all of chromosome 13. Symptoms consist of fatigue, kidney problems, bone pain, nausea, confusion, loss of appetite, weight loss, constipation, excessive thirst, weak and numb legs, hypercalcemia, and frequent infections.

Multiple tests may be performed to obtain a diagnosis, including blood tests, bone marrow exams, urine tests, and imaging tests. After one is diagnosed, treatment will fall into one of two types. These are controlling or killing malignant myeloma cells and supportive therapy. Doctors may use steroids, chemotherapy, proteasome inhibitors, HDAC inhibitors, and immunomodulatory drugs.

About the Genomic Markers

In order to discover these genomic markers, researchers took samples from 214 participants and performed next-generation sequencing. In addition, whole-exome sequencing was performed on 166 tumors, and deep targeted sequencing was used on 48 tumors. An external cohort was evaluated as well, which included an additional 72 patients.

With this information they found that genetic markers associated with progression were present at the time of a smoldering multiple myeloma diagnosis. Their findings demonstrated that an altered MAPK pathway, an altered DNA repair pathway, and translocations or copy number variations of the MYC gene all led to a shorter time before progression. In fact, patients with one or more of these markers had a median time of 1.2 years before progression, while patients with none saw a median time of 7.2 years.

Medical professionals believe that these newly discovered markers can improve risk models, which would lead to better treatment for patients.

You can read the full study here.

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