[Dysimmune manifestations associated with myelodysplastic neoplasms and chronic myelomonocytic leukaemias]

Bull Cancer. 2023 Nov;110(11):1147-1155. doi: 10.1016/j.bulcan.2023.02.023. Epub 2023 Jul 4.
[Article in French]

Abstract

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.

Keywords: Autoimmune disease; Azacitidine; Chronic myelomonocytic leukemia; Inflammatory diseases; Leucémie myélomonocytaire chronique; Maladie auto-immune; Maladies inflammatoires; Myelodysplastic syndrome; Syndrome myélodysplasique; VEXAS syndrome.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Azacitidine / therapeutic use
  • Humans
  • Leukemia, Myelomonocytic, Chronic* / complications
  • Leukemia, Myelomonocytic, Chronic* / drug therapy
  • Leukemia, Myelomonocytic, Chronic* / genetics
  • Myelodysplastic Syndromes* / complications
  • Myelodysplastic Syndromes* / genetics
  • Skin Diseases*
  • Skin Diseases, Genetic

Substances

  • Azacitidine

Supplementary concepts

  • VEXAS syndrome