Blood test for identifying cancer mutations in lung cancer and melanoma patients

A Prospective Study of Plasma Genotyping as a Noninvasive Biomarker for Genotype-directed Cancer Care

Observational Dana-Farber Cancer Institute · NCT02279004

This study is testing a blood test that looks for specific cancer mutations in people with advanced lung cancer or melanoma to help tailor their treatment and track how well it’s working.

Quick facts

Study typeObservational
Enrollment840 (estimated)
Ages18 Years and up
SexAll
SponsorDana-Farber Cancer Institute Academic / other
Drugs / interventionserlotinib
Locations1 site (Boston, Massachusetts)
Trial IDNCT02279004 on ClinicalTrials.gov

What this trial studies

This study evaluates a blood-based genotyping tool that detects oncogenic mutations in patients with advanced non-small cell lung cancer (NSCLC) and melanoma. The aim is to provide a noninvasive method for classifying patient genotypes and monitoring treatment response. By quantifying mutations such as EGFR, KRAS, and BRAF, the study seeks to improve the speed and accessibility of personalized cancer care. Participants will include those starting initial treatment or those with acquired resistance to targeted therapies.

Who should consider this trial

Good fit: Ideal candidates include patients with advanced non-squamous NSCLC or stage IIIB-IV melanoma who are beginning initial therapy or have acquired resistance to targeted therapy.

Not a fit: Patients with cancers that do not involve the specified mutations or those who are not starting treatment may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could streamline the process of identifying effective treatments for cancer patients, leading to better outcomes.

How similar studies have performed: Other studies have shown promise in using blood-based genotyping for cancer treatment, indicating a growing interest in this noninvasive approach.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria

To participate in this study a participant must meet the eligibility of one of the following cohorts:

Cohort 1: Cancers beginning initial treatment

* One of the following diagnoses:

  * Cohort 1A (CLOSED):

    ---Advanced non-squamous NSCLC (including adenosquamous)
  * Cohort 1B:

    * Stage II-III non-squamous NSCLC (including adenosquamous)
    * Stage IIIB-IV melanoma
* Patient must be planned to begin initial therapy, or completely resected before or after receiving adjuvant therapy
* For patients with NSCLC, EGFR and KRAS genotype may be known or unknown
* For patients with melanoma, BRAF and NRAS genotype may be known or unknown
* For patients without tumor genotyping, there must be a plan for genotyping including either:

  * Archived tumor tissue available and planned for genotyping
  * A biopsy at some future time is anticipated and will be available for genotyping

Cohort 2: Cancers with acquired resistance to targeted therapy

* One of the following diagnoses:

  * Cohort 2A (CLOSED):

    ---Advanced NSCLC harboring a known EGFR mutation
  * Cohort 2B:

    * Advanced NSCLC harboring a targetable genotype other than EGFR
    * Advanced melanoma harboring a known tumor genotype
* Clinical determination of progression targeted therapy, as evidence by plans to start a new systemic treatment regimen, or obtain a biopsy to plan a new treatment regimen

  * New systemic treatment regimen planned OR
  * Re-biopsy for resistance genotyping planned
* Note, date of targeted therapy start and clinical progression must be provided

Cohort 3: Cancers with a known genotype starting palliative systemic therapy

Cohort 3A (CLOSED):

* Advanced NSCLC harboring one of the following mutations:

  * EGFR exon 19 deletion
  * EGFR L858R
  * EGFR T790M
  * KRAS G12X
  * BRAF V600E
* Patients must be initiating palliative systemic therapy, either on or off a clinical trial

Cohort 4: Paired plasma NGS and ddPCR

* Cohort 4A (CLOSED):

  * Advanced NSCLC, newly diagnosed or with progression following treatment.
  * Biopsy tissue must be available or a biopsy planned and one of the following:

    * Genotyping must have been performed previously
    * Genotyping must be in progress
    * A plan must exist to order genotyping on existing tissue or a planned re-biopsy
  * Patient must not be eligible to enroll in cohort 1A or 2A due to:

    * Not eligible for cohort 1A or 2A
    * Eligible for cohort 1A or 2A but cohort has closed
* Cohort 4B: Undergenotyped NSCLC

  * Advanced NSCLC, newly diagnosed or with progression following treatment.
  * No known targetable genotype on prior tumor genotyping
  * Biopsy planned for tumor genotyping
* Cohort 4C: EGFR-mutant NSCLC with acquired resistance

  * Advanced EGFR-mutant NSCLC with progression on EGFR TKI
  * Biopsy planned for resistance genotyping (e.g. T790M, etc)

Cohort 5: Genotyped KRAS patients starting palliative systemic therapy

* Advanced NSCLC harboring a KRAS exon 2 mutation
* Patients must be initiating new systemic therapy, either on or off a clinical trial

Exclusion Criteria

* Participants who are unable to provide informed consent
* Participants who are 18 years of age or younger
* Participants who are unable to comply with the study procedures

Where this trial is running

Boston, Massachusetts

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions NSCLCMelanomaPlasma Genotyping
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.