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Report for Clinical Trial NCT02640287

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Expression of Ku70/XRCC6 and Others NHEJ Components in Waldenström's Macroglobulinemia in Comparison With Others B-cell Lymphoproliferative Disorders and Normal B Cells.

Waldenström's macroglobulinemia is a rare disease whose pathophysiology remains at present poorly understood, although a recurrent mutation (L265P MYD88) has recently been described. Unlike other lymphoproliferative disorders, there is a defect in isotype switching, mechanism involving AID and NHEJ complex. Using a two-dimensional electrophoresis technology, our group showed that MW had a specific proteomic profile, and one of the differentially expressed proteins is Ku70 (encoded by XRCC6 belonging to NHEJ complex) . The investigators purpose to explore the mechanisms of underexpression of Ku70/XRCC6 (genetic or epigenetic modification) in comparison with other lymphoid malignancies and normal B cells.

NCT02640287 Waldenström Macroglobulinemia
MeSH:Waldenstrom Macroglobulinemia
HPO:Monoclonal immunoglobulin M proteinemia

1 Interventions

Name: Blood or bone marrow samples

Type: Biological
Group Labels: 3

Healthy subjects Others B-cell malignancies Waldenström macroglobulinemia


Primary Outcomes

Description: Comparing the average level of expression of Ku70 in B cells measured in patients of WM, in patients other SLP and in healthy subjects (without MW and other SLP) , matched for age ( +/- 5 years) and sex

Measure: Measure of ratio Ku70/XRCC6

Time: Baseline

Purpose: Other

Allocation: Non-Randomized

Parallel Assignment


There is one SNP

SNPs


1 L265P

Expression of Ku70/XRCC6 and Others NHEJ Components in Waldenström's Macroglobulinemia in Comparison With Others B-cell Lymphoproliferative Disorders and Normal B Cells.. Expression of Ku70/XRCC6 in Waldenström's Macroglobulinemia Waldenström's macroglobulinemia is a rare disease whose pathophysiology remains at present poorly understood, although a recurrent mutation (L265P MYD88) has recently been described. --- L265P ---

Inclusion Criteria: - Patient over 18 years, affiliated to the social regimen - Written consent collected MW group : - Patient with a diagnosis of MW according to WHO criteria (based on the results of serum protein electrophoresis, bone marrow analysis with immunophenotyping, cytogenetic analysis and mutation L265P MyD88) Other SLP : - Patient with diagnosis of Chronic Lymphocytic Leukemia, Splenic Marginal Zone Lymphoma or Multiple Myeloma Healthy volunteers : - volunteers without blood disorders Exclusion Criteria: - Women of childbearing age who do not have an effective means of contraception - Pregnant or nursing - Demonstration of a kappa or lambda monotype on B lymphocytes - healthy volunteer with B-cell malignancy Inclusion Criteria: - Patient over 18 years, affiliated to the social regimen - Written consent collected MW group : - Patient with a diagnosis of MW according to WHO criteria (based on the results of serum protein electrophoresis, bone marrow analysis with immunophenotyping, cytogenetic analysis and mutation L265P MyD88) Other SLP : - Patient with diagnosis of Chronic Lymphocytic Leukemia, Splenic Marginal Zone Lymphoma or Multiple Myeloma Healthy volunteers : - volunteers without blood disorders Exclusion Criteria: - Women of childbearing age who do not have an effective means of contraception - Pregnant or nursing - Demonstration of a kappa or lambda monotype on B lymphocytes - healthy volunteer with B-cell malignancy Waldenström Macroglobulinemia Waldenstrom Macroglobulinemia null --- L265P ---

Inclusion Criteria: - Patient over 18 years, affiliated to the social regimen - Written consent collected MW group : - Patient with a diagnosis of MW according to WHO criteria (based on the results of serum protein electrophoresis, bone marrow analysis with immunophenotyping, cytogenetic analysis and mutation L265P MyD88) Other SLP : - Patient with diagnosis of Chronic Lymphocytic Leukemia, Splenic Marginal Zone Lymphoma or Multiple Myeloma Healthy volunteers : - volunteers without blood disorders Exclusion Criteria: - Women of childbearing age who do not have an effective means of contraception - Pregnant or nursing - Demonstration of a kappa or lambda monotype on B lymphocytes - healthy volunteer with B-cell malignancy Inclusion Criteria: - Patient over 18 years, affiliated to the social regimen - Written consent collected MW group : - Patient with a diagnosis of MW according to WHO criteria (based on the results of serum protein electrophoresis, bone marrow analysis with immunophenotyping, cytogenetic analysis and mutation L265P MyD88) Other SLP : - Patient with diagnosis of Chronic Lymphocytic Leukemia, Splenic Marginal Zone Lymphoma or Multiple Myeloma Healthy volunteers : - volunteers without blood disorders Exclusion Criteria: - Women of childbearing age who do not have an effective means of contraception - Pregnant or nursing - Demonstration of a kappa or lambda monotype on B lymphocytes - healthy volunteer with B-cell malignancy Waldenström Macroglobulinemia Waldenstrom Macroglobulinemia null --- L265P --- --- L265P ---



HPO Nodes


HPO: