Evaluating CALR Allele Burden for Diagnosis and Monitoring of CALR Mutated Myeloproliferative Syndromes

What this Trial Is About

This research aims to evaluate the importance of monitoring CALR allele burden as a molecular marker to understand disease progression in patients with CALR-mutated myeloproliferative neoplasms MPNs. It builds on earlier findings from a local study of 45 patients, which showed that quantifying CALR mutations could predict outcomes independently of established risk scores. The study plans to include a large group of 260 patients with various types of CALR-mutated MPNs to better model how CALR allele burden changes over time. Participants will have their blood collected at diagnosis and during follow-up visits, with up to one sample per year for a maximum of three years. This allows researchers to measure the CALR allele burden through DNA extraction and fragment analysis. Additionally, at diagnosis, a mutational profile will be studied using advanced sequencing methods. The study will also assess a clinical and biological scoring system to determine disease progression in Essential Thrombocythemia and Myelofibrosis cases. During the study, participants will provide blood samples at diagnosis and annually for up to three years. Researchers will evaluate the relationship between CALR allele burden changes and disease progression using this data. They will also analyze characteristics like pathology type, treatment, and additional mutations to understand their impact on allele burden trajectories. The main outcome is to determine how these trajectories relate to the time until disease progression, supporting better monitoring and management of CALR-mutated MPNs.

Interest of CALR Allele Burden in Diagnosis and Follow-up of Patients With CALR Mutated Myeloproliferative Syndromes (CALRSUIVI)