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Characterization & Comparison of Drugable Mutations in Primary and Metastatic Tumors, CTCs and cfDNA in MBCpatients (MIRROR)

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ClinicalTrials.gov Identifier: NCT02626039
Recruitment Status : Recruiting
First Posted : December 10, 2015
Last Update Posted : March 9, 2017
Sponsor:
Information provided by (Responsible Party):
Hospital General Universitario Gregorio Marañon

Brief Summary:

Characterization of the driver mutations in an individual metastatic breast cancer patient is critical for many reasons. Effective targeted therapies require identifying genomic alterations in the tumoral tissue. The scarce efficacy of many currently available targeted drugs may be due to the outbreak of resistant clones with different genotype that already present at the initiation of therapy. It is well known the intra-tumor heterogeneity with genetic and non-genetic factors considered as the origin of the tumor cell-clon composition. The acquisition of multiple mutations (driver and passenger), altogether with the stage of differentiation, according to the cancer stem cell hypothesis, confers to the tumor cells clinically important properties, such as resistance to therapies and seeding abilities.

Moreover, there is a current challenge in establishing whether the metastatic cells arise from the most aggressive and dominant clone in the primary tumor or the metastasic tissue diverges with substantial genetic changes very early in the evolution of the disease. Primary and metastatic tumor may have a close clonal relationship or evolve in parallel and acquire different genomic alterations. In the real life, it is plausible that both models coexist with different predominance according to the tumoral tissue and etiology.

The study hypothesizes that breast cancer metastases and primary tumors could harbor different genomic profiles related to genomic regions of interest in a clinically relevant proportion of metastatic breast cancer patients.

Moreover, the genomic aberrations found in the metastatic breast cancer tissue could also be detected in CTCs and circulating free DNA.

If true, CTCs and circulating free DNA would be convenient, non-invasive, easily accessible sources of genomic material for the analysis of mutations and other genomic aberrations.


Condition or disease
Metastatic Breast Cancer

Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Characterization and Comparison of Drugable Mutations in Primary Tumors, Metastatic Tissue, Circulating Tumor Cells and Cell-Free Circulating DNA in Metastatic Breast Cancer Patients
Study Start Date : November 2013
Estimated Primary Completion Date : March 2017
Estimated Study Completion Date : April 2017

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Breast Cancer




Primary Outcome Measures :
  1. Cohen's kappa coefficient to measure the inter-rater agreement for mutations and other genomic findings (categorical items) between the metastatic tissue and the primary tumor tissue in Metastatic Breast Cancer patients. [ Time Frame: 26 months ]

Secondary Outcome Measures :
  1. Number of somatic genomic findings (found in the primary and metastatic tumor) in circulating tumoral cells (CTC) and circulating free DNA(cfDNA) obtained from peripheral blood (liquid biopsy). [ Time Frame: 26 months ]
  2. Description of the mutations in analyzed genes in the primary tumor and in CTC/cfDNA for each patient. [ Time Frame: 26 months ]

Biospecimen Retention:   Samples With DNA
Primary and Metastatic tumoral tissue (FFPE samples) and Blood samples


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Women with metastatic breast cancer in which FFPE samples from the primary tumors are available and in whom a biopsy of the metastatic relapse is clinically indicated.

Investigators will offer enrollment to consecutively seen women who meet the entry criteria. Target enrollment is 40 patients

Criteria

Inclusion Criteria:

  • Metastatic breast cancer confirmed by radiologic findings
  • ≥ 18 years old
  • Able to give signed consent
  • Availability to get the paraffin block of her primary tumor.
  • First metastatic relapse or tumor regrowth while on treatment for metastatic disease (progressive disease while on treatment)
  • Biopsy of the metastatic site clinically indicated

Exclusion Criteria:

  • Inability to get a core sample from a metastatic site
  • Bone disease only (the decalcification process usually prevents an appropriate genomic study).
  • Unable to drawn peripheral blood
  • Unable to give the informed consent
  • Coagulation disorders
  • ECOG status 3-4

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02626039


Contacts
Contact: Miguel Martín, Ph 0034915868115 mmartin@geicam.org

Locations
Spain
Hospital General Universitario Gregorio Marañón Recruiting
Madrid, Spain, 28007
Contact: Martin Miguel, Ph         
Contact    0034915868115    mmartin@geicam.org   
Sponsors and Collaborators
Hospital General Universitario Gregorio Marañon
Investigators
Study Chair: Miguel Martín, Ph Hospital General Universitario Gregorio Marañon

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Hospital General Universitario Gregorio Marañon
ClinicalTrials.gov Identifier: NCT02626039     History of Changes
Other Study ID Numbers: GOMHGUGM092013
First Posted: December 10, 2015    Key Record Dates
Last Update Posted: March 9, 2017
Last Verified: March 2017

Keywords provided by Hospital General Universitario Gregorio Marañon:
Metastatic Breast Cancer
CTCs
cfDNA
genomics
somatic mutations

Additional relevant MeSH terms:
Breast Neoplasms
Neoplasms by Site
Neoplasms
Breast Diseases
Skin Diseases