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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


Hodgkin lymphoma
Genes 15
ATM TCF4 POLE FAS DKC1 CASP10 TCF4 FAS FASLG COL14A1 RNF43 AAGAB RASGRP1 PRKCD KLHDC8B
Lymphoma
Genes 133
ATM KRAS CD19 IGH DDX41 BCL10 BIRC3 FOXP1 MS4A1 TP63 RAG1 LIG4 NFKB2 MSH6 TERC RECQL4 NTHL1 WIPF1 CTC1 LYST NOP10 RASGRP1 TNFRSF1B XRCC4 PRKCD NHP2 MAGT1 TNFRSF13B IGH RMRP RUNX1 CTLA4 DCLRE1C FAS ICOS RNF43 NSUN2 XIAP IL7R CASP10 BCL6 CDKN2A ATM IL2RG RTEL1 PARN NBN KIT TNFRSF13C TCF4 ICOS TNFSF12 CHEK2 USB1 CD19 CR2 NRAS MSH2 WAS BCL10 CASP10 MYD88 COL14A1 PRKCD TNFRSF13B MYC MDM2 SH2D1A CCND1 BCL10 CFTR CD27 PGM3 TCF4 CHD7 IGH LIG4 BLM BCL2 TET2 HLA-DRB1 PRSS1 NPM1 KIF11 ITK WRAP53 RAD54B TINF2 FAS DKC1 APC CD81 LIG4 BLM CD28 DKC1 AAGAB RAG2 TNFRSF1B MLH1 TNFRSF13C DNASE1L3 NFKB1 PMS2 ASXL1 IL2RG PRF1 PTEN MALT1 RAD54L CTLA4 CD28 PNP SRSF2 TNFSF12 STAT3 POLE ADA CR2 ADA FASLG PIK3R1 TP53 CTRC ZAP70 MYD88 RB1 RMRP SPINK1 TERT KLHDC8B NBN RHOH