Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes

  • End date
    Sep 30, 2023
  • participants needed
  • sponsor
    University Hospital, Brest
Updated on 28 January 2021


Myelodysplastic syndromes (MDS) are malignant hematopathies of the elderly characterized by persistent cytopenias and the presence of deregulated clonal hematopoiesis. The risk of progression to acute myeloid leukemia (AML) is variable. Acquired cytogenetic abnormalities are found in less than 50% of de novo cases and up to 80% in secondary MDS. The deletion of the long arm of chromosome 5 (written del(5q)) is the most common abnormality in MDS (15%). Del(5q) MDS has a good prognosis, with a median survival of 6 years and a 15% risk of progression to AML. However, their life expectancy is shorter than the general population, and the quality of life of patients is diminished. These treatments are not that effective over a long period of time or not well tolerated, and the majority of patients die from causes related to their MDS, such as infections (38%), progression to AML (15%), or bleeding (13%). Two genes, RBM22 and SLU7, coding for proteins of the same complex involved in splicing pre-messenger RNA are carried on the long arm of chromosome 5. We investigate the pronostic impact and the predictive value of the double haploinsufficiency of the RBM22 and SLU7 genes in del(5q) myelodysplastic syndromes isolated or not compared to the single haploinsufficiency of RBM22 and normal karyotype myelodysplastic syndromes.

Condition Bone marrow disorder, Bone marrow disorder, Preleukemia, MYELODYSPLASTIC SYNDROME, Myelodysplastic Syndromes (MDS), Myelodysplastic Syndromes (MDS), myelodysplastic syndromes, myelodysplastic syndrome (mds), Myelodysplastic Syndrome With Isolated Del(5Q), Myelodysplastic Syndrome With Del(5Q), Myelodysplastic Syndrome With Isolated Del(5Q), Myelodysplastic Syndrome With Del(5Q), Myelodysplastic Syndrome With Isolated Del(5Q), Myelodysplastic Syndrome With Del(5Q)
Treatment somatic cytogenetic and genetic characterization
Clinical Study IdentifierNCT04701229
SponsorUniversity Hospital, Brest
Last Modified on28 January 2021


Yes No Not Sure

Inclusion Criteria

Patients diagnosed with del5q MDS isolated or not
The clinical and biological data are known at the time of diagnosis
The clinical and biological data are known 1 year after the diagnosis
Consent for the collection of samples for research purposes
Non-opposition obtained

Exclusion Criteria

Patients under judicial protection (guardianship, ...)
Refusal to participate
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