Connection Between Arthritis and Blood Cancer Mutations - EMJ

Connection Between Arthritis and Blood Cancer Mutations

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RESEARCHERS have found a link between rheumatoid arthritis and certain gene mutations found in cancer. A research team, led by Devendra Hiwase, Adelaide Medical School, University of Adelaide, Australia, focused on seronegative rheumatoid arthritis, a sub-type of rheumatoid arthritis (RA), that differs in the inconsistency of its response to typical treatments, and presents a negative blood test result for the main biomarker present in RA.

The team assessed the burden of autoimmune rheumatic disease (AIRD) in patients (n = 1,702, median age = 68 years, 60% male) with myeloid neoplasm (MN) (n = 861), including myelodysplastic syndrome (MDS) (n = 861), chronic myelomonocytic leukaemia (CMML), acute myeloid leukaemia (AML) (n = 640), and myeloproliferative neoplasms (MPNs).

Hiwase and colleagues reported that enrichment of AIRD was observed in MDS, MDS/MPN, and MPN compared with AML (9.5%, 9.8%, 10.1%, and 4.7%, respectively; P = 0.003). The team highlighted that 85.9% of inflammatory arthritis diseases were rheumatoid arthritis (RA) (n = 55) followed by peripheral (n = 8, 12.5%) and axial (n = 1, 1.6%) spondyloarthropathies.

“We found the presence of the bone marrow mutation in the gene IDH1 or IDH2 preceded the onset of the arthritis in several cases, suggesting it may be a causative factor,” commented Hiwase, adding that this may indicate other forms of bone marrow disorders causing autoimmune disease-like inflammation. “Our findings are important for arthritis patients because it means metabolic therapies normally given to blood cancer patients may also be effective for patients with certain forms of arthritis,” the researchers concluded.



Hong LE et al. IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation. Blood. 2024;143(18):1873-7.

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