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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| normal karyotype | control group |
| |
| del5q-RBM22neg-SLU7neg | this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22, a loss of SLU7. |
| |
| del5q-RBM22neg-SLU7pos | this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22 but no loss of SLU7 |
| |
| del5q-RBM22pos-SLU7neg | this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22, but a loss in SLU7 |
| |
| del5q-RBM22pos-SLU7pos | this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22 nor SLU7 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| somatic cytogenetic and genetic characterization | Genetic | investigating the presence of some genes allelles (RBM22, SLU7, RBM27, other on chromosome 5) by FISH, and sequencing of a classical panel of myeloid genes including RBM22, SLU7, for somatic identification of genetic alterationss of the blasts. |
| Measure | Description | Time Frame |
|---|---|---|
| prognostic impact on anemia | To evaluate the prognostic impact of the dual loss of an RBM22 and a SLU7 allele compared to the loss of an RBM22 allele alone on anemia, as measured by the hemoglobin level in the blood, between diagnosis and one year in patients with del5q myelodysplastic syndrome. | retrospective study on data collected; 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| prognostic impact on blood count | To evaluate the prognostic impact of the double loss of an RBM22 allele and a SLU7 allele compared to the loss of an RBM22 allele alone on the other criteria of the blood count including leukocytes, platelets, monocytes, circulating blasts, VGM, myelemia. | retrospective study on data collected; 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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Patients diagnosed with myelodysplastic syndromes and presenting a deletion of chromosome 5 in their bone marrow cells
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Marie-Bérengère TROADEC | Contact | (33)298223324 | marie-berengere.troadec@chu-brest.fr | |
| Nathalie DOUET-GUILBERT | Contact | (33)298223324 | nathalie.douet-guilbert@chu-brest.fr |
| Name | Affiliation | Role |
|---|---|---|
| Marie-Bérengère TROADEC | CHRU BREST | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHRU de Brest | Recruiting | Brest | 29609 | France |
All collected data that underlie results in a publication
Data will be available beginning three years and ending fifteen years following the publication
Data access requests will be reviewed by the internal committee of Brest UH. Requestors will be required to sign and complete a data access agreement.
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cytogenetic pellets; bone marrow patients cells
|
| prognostic impact on progression to leukemia |
To evaluate the prognostic impact of the double loss of an RBM22 and a SLU7 allele compared to the loss of an RBM22 allele alone on the progression to acute myeloid leukemia. |
| retrospective study on data collected; 2 years |
| impact on gene expression and splicing profile | To evaluate the impact of the double loss of an RBM22 allele and a SLU7 allele compared to the loss of an RBM22 allele alone on gene expression profiles, including splicing variants. | retrospective study on RNA collected; 2 years |
| Groupe Français de cytogénétique Hématologique | Recruiting | Paris | 75000 | France |
|
| Groupe Français des Myélodysplasies | Recruiting | Paris | 75000 | France |
|
| ID | Term |
|---|---|
| D009190 | Myelodysplastic Syndromes |
| C535323 | Chromosome 5q Deletion Syndrome |
| D000740 | Anemia |
| ID | Term |
|---|---|
| D001855 | Bone Marrow Diseases |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
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