LIN-PIERRE ZHAO (PARIS)
MDS/CMML WITH TET2 OR IDH MUTATIONS ARE ASSOCIATED WITH SYSTEMIC
INFLAMMATORY AND AUTOIMMUNE DISEASES AND T-CELL DYSREGULATION
About 25% of Myelodysplastic Syndromes (MDS) and Chronic Myelomonocytic Leukemia (CMML) are
associated with Systemic Inflammatory and Autoimmune Diseases (SIAD). In this French single center
retrospective study, we described the mutational landscape and immune T cell phenotype correlations
of MDS/CMML with SIAD. 85 MDS/CMML patients with SIAD were compared to a control cohort of
319 MDS/CMML patients without SIAD. Presence of SIAD had no impact on MDS/CMML progression
or survival. TET2 mutations (39/85 (46%) versus 108/319 (34%), p=0.04), IDH1/2 mutations (12/85
(14%), versus 14/319 (4%), p<0.01) and SRSF2 mutations (26/85 (31%) versus 47/319 (15%), p<0.01)
were significantly more frequent in MDS/CMML patients with SIAD. T-cells phenotyping in 28
MDS/CMML patients (n=12 of whom with SIAD) and unsupervised analysis with the Citrus algorithm
showed a significant reduction of a specific immune checkpoint regulator CD96 on CD8+ T lymphocytes
(p<0.05) in TET2/IDHmut MDS/CMML patients, and major dysregulation in CD8+ T-cell phenotype.
Our study provides a molecular description of MDS/CMML associated with SIAD, and suggests that the
epigenetic regulators TET2/IDH may play a role in the pathogenesis of both MDS/CMML and SIAD.
Further studies are warranted to more precisely assess the function of TET2/IDH in T cell homeostasis
disruption.
SCIENTIFIC PROGRAMME
SESSION I
ETIOLOGY OF MDS
SESSION II
BIOLOGY OF MDS –
GENETIC ABNORMALITIES
SESSION III
BIOLOGY OF MDS:
STEM CELLS AND THE
MICROENVIRONMENT
SESSION IV
DIAGNOSTIC WORKUP
AND PROGNOSTIC
FACTORS IN MDS
SESSION V
SPECIFIC SUBTYPES
OF MDS, BASED ON
MORPHOLOGY AND
MOLECULAR BIOLOGY
SESSION VI
TREATMENT OF MDS
SESSION VII
CURRENT PROGRESS IN
THE TREATMENT OF MDS
SESSION VIII
FUTURE TREATMENTS
AND TREATMENT
STRATEGIES IN MDS
SESSION IX
LATE-BREAKING TALKS
SELECTED ABSTRACTS
FOR AN ORAL
PRESENTATION
SELECTED ABSTRACTS
AS E-POSTERS
DISCLOSURES