Dysimmune manifestations associated with myelodysplastic neoplasms and chronic myelomonocytic leukaemias

• Published in: Bulletin du cancer
• Main Authors: Jachiet, Vincent, Hadjadj, Jérôme, Zhao, Lin-Pierre, Chasset, François, Fain, Olivier, Fenaux, Pierre, Mekinian, Arsène
• Format: Journal Article
• Language: French
• Published: France 01.11.2023
• Subjects: VEXAS syndrome; Azacitidine; Syndrome myélodysplasique; Chronic myelomonocytic leukemia; Maladie auto-immune; Leucémie myélomonocytaire chronique; Autoimmune disease; Maladies inflammatoires; Inflammatory diseases; Myelodysplastic syndrome
• ISSN: 1769-6917
• DOI: 10.1016/j.bulcan.2023.02.023

Systemic inflammatory or autoimmune diseases (SIAD) are observed in up to a quarter of patients with myelodysplastic syndromes (MDS) or chronic myelomonocytic leukemia (CMML), with a broad clinical spectrum including asymptomatic biological abnormalities, isolated inflammatory clinical manifestations (recurrent fever, arthralgia, neutrophilic dermatoses…) or identified systemic diseases (giant cell arteritis, recurrent polychondritis…). Recent advances in molecular biology have shed new light on the pathophysiological mechanisms that link inflammatory manifestations and myeloid hemopathies, particularly in VEXAS syndrome following the identification of somatic mutations in the UBA1 gene, or in neutrophilic dermatoses with the concept of myelodysplasia cutis. Although the presence of SIAD does not seem to affect overall survival or the risk of transformation into acute myeloid leukemia, their treatment remains a challenge given the frequent high level of corticosteroid dependence as well as the poor efficacy and tolerance (cytopenias, infections) of conventional immunosuppressive agents. Recent prospective data supports the interest of a therapeutic strategy using demethylating agents and notably azacitidine to target the pathological clone.