Symptoms and General Pathology

All Conditions

Blood and Lymph Conditions

Heart and Blood Diseases

Rare Diseases

Syndrome

Myeloproliferative Disorders

Primary Myelofibrosis

Thrombocytosis

Thrombocythemia, Essential

Bone Marrow Diseases

Hematologic Diseases

Blood Platelet Disorders

Hemostatic Disorders

Blood Coagulation Disorders

Hemorrhagic Disorders

Chronic Myeloproliferative Disorders

Essential Thrombocythemia

* DNA extraction from blood sample for CALR mutation quantification (fragment analysis)
* at diagnosis and follow-up (inclusion period: 3 years)
* max 1 sample/year
* secondary outcome: mutational landscape by Next Generation Sequencing (NGS) analysis at diagnosis

CALR allele burden quantification

Laurane COTTIN, Doctor

Emma BLANCHET

Laurane COTTIN, Dr

Prospective study to evaluate the relevance of CALR allele burden monitoring as a molecular marker of disease progression.

A first local study on 45 patients showed the prognostic impact of CALR mutation quantification in follow-up, independently of the European LeukemiaNet (ELN) prognostic score validated in this group of patients.

This study aims to evaluate a multicenter cohort of 260 patients, including all types of CALR-mutated MPNs and several follow-up samples, to model the temporal evolution of CALR allele burden.

Blood of MPN patients will be collected, at the time of diagnosis and for 3 years (max 1 sample/year), for the quantification of the CALR allele burden. During follow-up, a clinicobiological score to define the progression or not of the disease for each patient will be evaluated in Essential Thrombocythemia (ET) and MyeloFibrosis (MF).

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

Clinicobiological score :

For ET, disease progression if ≥ 1 of:

* leukocytosis \> 12 G/L or myelemia \> 10% or erythroblasts \> 1%,
* anemia or thrombocytopenia not related to drug toxicity,
* development or worsening of splenomegaly,
* development of thrombocytosis (platelets \> 450 G/L) on cytoreductive therapy,
* poor disease control (at least one change in therapy for reasons other than adverse events),
* hematologic transformation or death related to hematologic pathology.

For MF, disease progression if ≥ 1 of:

* anemia \< 100 g/L, neutropenia \< 1 G/L, thrombocytopenia \< 100 G/L and/or development of general signs not previously present or recurring after improvement,
* increase in leukocytosis \> 25 G/L not previously present,
* appearance or aggravation of transfusion dependence,
* appearance (\> 5 cm) or aggravation (\> 50%) of splenomegaly,
* leukemic transformation or death related to the hematologic pathology.

Ligue contre le cancer, France

University Hospital, Angers

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Interest of CALR Allele Burden in Diagnosis and Follow-up of Patients With CALR Mutated Myeloproliferative Syndromes (CALRSUIVI)	NCT04942080	Myeloproliferat... Essential Throm... Primary Myelofi... Primary Myelofi...	CALR allele bur...	18 Years -	University Hospital, Angers
Interest of CALR Allele Burden in Diagnosis and Follow-up of Patients With CALR Mutated Myeloproliferative Syndromes (CALRSUIVI)	NCT04942080	Myeloproliferat... Essential Throm... Primary Myelofi... Primary Myelofi...	CALR allele bur...	18 Years -	University Hospital, Angers
Interest of CALR Allele Burden in Diagnosis and Follow-up of Patients With CALR Mutated Myeloproliferative Syndromes (CALRSUIVI)	NCT04942080	Myeloproliferat... Essential Throm... Primary Myelofi... Primary Myelofi...	CALR allele bur...	18 Years -	University Hospital, Angers

Spots Global Cancer Trial Database for calr allele burden quantification