Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes (SMD-RMB22)

Regional University Hospital Center (CHRU)

Status: Unknown

Conditions: Myelodysplastic Syndrome With Del(5Q); Myelodysplastic Syndrome With Isolated Del(5Q); Myelodysplastic Syndromes

Treatments: Genetic: somatic cytogenetic and genetic characterization

Study type: Observational

Funder types: Other

Identifiers

NCT04701229

SMD-RMB22 (29BRC20.0029)

Details and patient eligibility

About

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.

Enrollment: 100 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

100 participants in 5 patient groups

normal karyotype

Description:

control group

Treatment:

Genetic: somatic cytogenetic and genetic characterization

del5q-RBM22neg-SLU7neg

Description:

this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22, a loss of SLU7.

Treatment:

Genetic: somatic cytogenetic and genetic characterization

del5q-RBM22neg-SLU7pos

Description:

this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22 but no loss of SLU7

Treatment:

Genetic: somatic cytogenetic and genetic characterization

del5q-RBM22pos-SLU7neg

Description:

this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22, but a loss in SLU7

Treatment:

Genetic: somatic cytogenetic and genetic characterization

del5q-RBM22pos-SLU7pos

Description:

this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22 nor SLU7

Treatment:

Genetic: somatic cytogenetic and genetic characterization