Cell-free Circulating DNA in Primary Cutaneous Lymphomas (MATULILA)

Detection of Somatic Mutations on Cell-free Circulating DNA in Potentially Aggressive Cutaneous Lymphomas

To evaluate the possibility of detecting cell-free circulating tumoral DNA in potentially aggressive primary cutaneous lymphomas, the investigator opted to search a representative tumor sample mutation in the blood of these patients, by digital PCR. Patients with mycosis fungoides, primary cutaneous T-cell lymphoma helper follicular phenotype and primary cutaneous diffuse large B-cell lymphoma, leg-type will be included and 4 blood samples will be collected during 12 months.

Study Overview

• Status: Completed
• Conditions: Mycosis Fungoides; Lymphoma, Large B-cell, Diffuse
• Intervention / Treatment: Genetic: Cytogenetic and molecular studies

Detailed Description

Primary cutaneous lymphomas represent the second extra nodal localization of lymphomas, and are constituted by T-cell and B-cell phenotype lymphomas. Mycosis fungoides, a T-cell epidermotropic lymphoma, is the most frequent. Its clinical behavior is usually indolent but some patients have an aggressive evolution. Among B-cell cutaneous lymphomas, primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) is the most aggressive. Cytogenetic and molecular studies on these tumours led to a genetic characterization of these entities. Therefore, there is not any biologic marker that can help monitoring these lymphomas. In solid tumors, mutations exhibited by the tumour tissue has been detected in plasma of patients, assessing the possibility to detect cell-free circulating tumoral DNA in a blood sample, with correlations with clinical characteristics and metastatic outcome. The concept of liquid biopsies, allowing the detection of tumour mutation in plasma has been validated in nodal diffuse large B-cell lymphoma. That's why the purpose is to evaluate the possibility to detect cell-free circulating tumoral DNA in primary cutaneous lymphomas, using a highly sensitive method (digital PCR), combined with a next generation sequencing panel of the tumour sample.

• Study Type: Observational
• Enrollment (Actual): 35

Contacts and Locations

Study Locations

• France
  • Bordeaux, France, 33000
    • University Hospital of Bordeaux - Hospital Saint André

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patient with an aggressive cutaneous Lymphomas

Description

Inclusion Criteria:

• age > 18 years;
• French social security system affiliation or equivalent;
• Patient with an aggressive cutaneous lymphoma (PCDLBCL-LT, mycosis fungoides, T helper follicular cutaneous lymphoma) diagnosed and monitored at the university hospital of Bordeaux;
• Written and informed consent obtained for genetic blood test;
• Biopsy sample available for molecular analysis.

Exclusion Criteria:

• Another cancer (except "in situ" and surgery treated cutaneous carcinomas) in the precedent 5 years.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Aggressive primary cutaneous lymphomas; Mycosis fungoides ≥ T2b; Primary cutaneous T helper follicular lymphoma ≥ T2; Primary cutaneous diffuse large B-cell lymphoma, leg type Genetic: Cytogenetic and molecular studies Detect cell-free circulating tumoral DNA in a blood sample, with correlations with clinical characteristics and metastatic outcome.	Genetic: Cytogenetic and molecular studies; Detect cell-free circulating tumoral DNA in a blood sample, with correlations with clinical characteristics and metastatic outcome.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Proportion of patients who have circulating free tumor DNA (detected by Digital polymerase chain reaction) with the mutation identified on biopsy	Day 1
Proportion of patients who have circulating free tumor DNA (detected by Digital polymerase chain reaction) with the mutation identified on biopsy	Week 12
Proportion of patients who have circulating free tumor DNA (detected by Digital polymerase chain reaction) with the mutation identified on biopsy	Week 24
Proportion of patients who have circulating free tumor DNA (detected by Digital polymerase chain reaction) with the mutation identified on biopsy	Week 36

Secondary Outcome Measures

Outcome Measure	Time Frame
Amount of circulating tumor DNA (number of copies / µl)	Day 1
Amount of free circulating DNA (number of copies / µl)	Day 1
Number of patient with presence or absence of blood lymphocyte clone identical to the tumor clone	Day 1
Number of patient with presence or absence of blood lymphocyte clone identical to the tumor clone	Week 12
Number of patient with presence or absence of blood lymphocyte clone identical to the tumor clone	Week 24
Number of patient with presence or absence of blood lymphocyte clone identical to the tumor clone	Week 36
Number of patient with presence or absence of mutation identified in circulating blood	Day 1
Number of patient with presence or absence of mutation identified in circulating blood	Week 12
Number of patient with presence or absence of mutation identified in circulating blood	Week 24
Number of patient with presence or absence of mutation identified in circulating blood	Week 36

Collaborators and Investigators

• Sponsor: University Hospital, Bordeaux
• Investigators: Principal Investigator: Anne PHAM-LEDARD, MD, University Hospital, Bordeaux

Study record dates

Study Major Dates

• Study Start (Actual): November 22, 2016
• Primary Completion (Actual): December 16, 2019
• Study Completion (Actual): December 16, 2019

Study Registration Dates

• First Submitted: August 25, 2016
• First Submitted That Met QC Criteria: August 29, 2016
• First Posted (Estimate): August 30, 2016

Study Record Updates

• Last Update Posted (Actual): May 13, 2022
• Last Update Submitted That Met QC Criteria: May 12, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Keywords: liquid biopsy; cell-free circulating DNA;; digital PCR
• Additional Relevant MeSH Terms: Infections; Immune System Diseases; Neoplasms by Histologic Type; Neoplasms; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Lymphoma, Non-Hodgkin; Bacterial Infections and Mycoses; Lymphoma, B-Cell; Lymphoma, T-Cell; Lymphoma; Lymphoma, Large B-Cell, Diffuse; Mycoses; Lymphoma, T-Cell, Cutaneous; Mycosis Fungoides
• Other Study ID Numbers: CHUBX2015/35

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No