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New Research Highlights Link between VEXAS, Cancer and Somatic Gene Mutations

Bryana Allen
January 18, 2024

New research published by Dr. Rashmi Kanagal-Shamanna highlights link between autoimmune disease (VEXAS), cancer and somatic gene mutations.

Here’s a summary from Dr. Kanagal-Shamanna:

Chronic systemic inflammation, gene mutations, and cancer are closely related in diseases that affect the immune system and blood (such as autoimmune/rheumatological disorders). A recent discovery found that, when a gene called UBA1 is mutated, it can cause an autoimmune disorder called VEXAS syndrome. The UBA1 gene mutation is associated with severe inflammation throughout the body as well as an increased risk of a specific blood cancer called myelodysplastic syndrome (MDS). This means that the UBA1 gene mutation can lead to both inflammation and cancer. Based on this discovery, labs that test for genetic mutations in patients with blood problems are now including the UBA1 gene in their standard (routine) tests. The increased frequency of screening for UBA1 gene mutations has led to its detection in patients who don’t have symptoms associated with VEXAS syndrome as well as in patients with and without a blood cancer diagnosis.

These findings have several important implications. First, in the past decade, there have been major advancements in the way we diagnose blood diseases, especially MDS. The diagnosis is now more focused on genetic testing (per latest WHO and International Consensus Classification criteria), but the doctors still need to consider other factors like the microscopic evaluation of bone marrow and blood for “abnormal” or “dysplastic” cells and the patient’s clinical symptoms. Therefore, correct diagnoses require careful integration of multiple tests and findings. Second, because the outcomes for patients with autoimmune diseases can vary significantly, it’s important to do thorough tests that include both blood counts, genetic testing and microscopic evaluation of blood or bone marrow. This could lead to improvements in how we classify these diseases. Further improvements in the classification systems should consider these suggestions. Clearly defining specific clinicopathologic conditions with known genetic abnormalities will significantly affect patients, leading to better management and outcomes. Lastly, because UBA1 gene mutations are present in precursor blood cells of patients with VEXAS, a diagnosis of blood cancer (such as MDS) should not be necessary for a transplant if it is the right course of action.

Access published study here: https://lnkd.in/eascYqgH

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