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Report for Mutation E571K

Developed by Shray Alag, 2020.
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There is one clinical trial.

Clinical Trials


1 Prevalence, Kinetic and Prognostic Value of XPO1 E571K Mutation Detection in Plasma Cell-free DNA From Patients Xith Classical Hodgkin Lymphoma

The purpose of this study is to determine if the XPO1 E571K mutation could be used as molecular residual disease biomarker in classical Hodgkin's lymphoma. To determine the interest of the mutation assessment by digital Polymerase Chain Reaction, sensitivity and specificity after 2 courses of chemotherapy (C2) will be compared with the deltaSUVmax determined by Positron Emission Tomography after C2 and at end of treatment.

NCT02815137 Classical Hodgkin Lymphoma Other: Digital Polymerase Chain Reaction
MeSH:Lymphoma Hodgkin Disease
HPO:Hodgkin lymphoma Lymphoma

Prevalence, Kinetic and Prognostic Value of XPO1 E571K Mutation Detection in Plasma Cell-free DNA From Patients Xith Classical Hodgkin Lymphoma. --- E571K ---

Detection and Prognostic Value of Recurrent XPO1 Mutations of Patients With Classical Hodgkin Lymphoma The purpose of this study is to determine if the XPO1 E571K mutation could be used as molecular residual disease biomarker in classical Hodgkin's lymphoma. --- E571K ---

Inclusion Criteria: - Age ≥18 years - Pathologically confirmed, recent diagnosis of classical Hodgkin Lymphoma - treatment planned with Adriamycin Bleamycin Vinblastine Dacarbazine (ABVD) or Bleomycin Etoposide Adriamycin Cyclophosphamide Vincristine Procarbazine Prednisone (BEACOPP) regimen (and radiotherapy if applicable) - all stages (Ann Arbor I - IV) - Written informed consent - Patient affiliated or beneficiary of a benefit system - untreated patient (no corticosteroids or chemotherapy) Exclusion Criteria: - No informed consent - Treatment by ABVD or BEACOPP not indicated - Previously treated Hodgkin lymphoma (including corticosteroids) - Patients who are pregnant or lactating - Active Hepatitis B or Hepatitis C infection - Known human immunodeficiency virus (HIV) infection - Patient with no social protection - Patient under tutorship or curatorship - Patient not affiliated of beneficiary of a benefit system - Medical contraindication to PET/CT Inclusion Criteria: - Age ≥18 years - Pathologically confirmed, recent diagnosis of classical Hodgkin Lymphoma - treatment planned with Adriamycin Bleamycin Vinblastine Dacarbazine (ABVD) or Bleomycin Etoposide Adriamycin Cyclophosphamide Vincristine Procarbazine Prednisone (BEACOPP) regimen (and radiotherapy if applicable) - all stages (Ann Arbor I - IV) - Written informed consent - Patient affiliated or beneficiary of a benefit system - untreated patient (no corticosteroids or chemotherapy) Exclusion Criteria: - No informed consent - Treatment by ABVD or BEACOPP not indicated - Previously treated Hodgkin lymphoma (including corticosteroids) - Patients who are pregnant or lactating - Active Hepatitis B or Hepatitis C infection - Known human immunodeficiency virus (HIV) infection - Patient with no social protection - Patient under tutorship or curatorship - Patient not affiliated of beneficiary of a benefit system - Medical contraindication to PET/CT Classical Hodgkin Lymphoma Lymphoma Hodgkin Disease A research team of Centre Henri Becquerel recently detected an unexpected recurrent point mutation of XPO1 (exportin 1) (also known as Chromosome Region Maintenance 1) located in exon 15 (c.1711G>A) leading to the Glu571Lys (p.E571K) missense substitution in relapsed/refractory (R/R) Primary Mediastinal Large B-cell Lymphoma (PMBL) patients included in the LYSA LNH03 trial program and in classical Hodgkin's Lymphoma patients. --- Glu571Lys ---

It was found recurrent XPO1 E571K mutations in a large cohort of 94 patients with classical Hodgkin's lymphoma. --- E571K ---

In total, 24.2 % of the patients with classical Hodgkin's lymphoma harbored the XPO1 E571K mutation. --- E571K ---

The research team of the Centre Henri Becquerel have identified a trend toward unfavorable prognostic impact in terms of progression-free survival in patients with detectable XPO1 E571K mutation in plasma cell-free DNA at the end of treatment, which could prove to be statistically significant in a larger cohort. --- E571K ---

Primary Outcomes

Description: Comparison of the sensitivity and specificity of the detection of the mutation between delta Standard Uptake Value max (SUV max) determined by PET after two courses of chemotherapy

Measure: If the mutation can be used as a molecular minimal residual disease biomarker

Time: 56 days

Secondary Outcomes

Description: difference between the variant allele fraction at the end of treatment and at the diagnosis

Measure: Kinetic of allele frequency decrease

Time: 224 days

Description: Difference of metabolic parameter in TEP between the end of treatment and the diagnosis

Measure: Variation of Deauville scale

Time: 224 days

Description: Time between the inclusion and the date of progression or death

Measure: Progression-free survival

Time: 2 years


HPO Nodes