Understanding the Molecular and Genetic Differences Between Germ Cell Tumor at the Time of the Initial Diagnosis and at Late Relapse

Understanding the Molecular and Genetic Differences Between GCT at the Time of the Initial Diagnosis and at Late Relapse

The current proposal is a pilot study. The Investigators plan to use next generation genome sequencing (NGGS) to define the molecular and genetic profiles of 3 cases of germ cell tumor (GCT) (with a component of yolk sac tumor) at the time of the initial diagnosis and 3 cases of late relapse GCT's, which are characterized by yolk sac tumor (and AFP secreting) predominant disease.

Investigators seek to demonstrate the feasibility of obtaining tissue biopsies (either archived or new biopsy) and utilization of NGGS in studying the molecular and genetic relationships between GCT's (with a component of yolk sac tumor) at the time of diagnosis and GCT's at the time of late relapse. This study will also provide preliminary information on genetic alterations, which may be a hypothesis for generating another study.

Study Overview

• Status: Completed
• Conditions: Neoplasms, Germ Cell and Embryonal
• Intervention / Treatment: Genetic: Next generation genome sequencing

Detailed Description

This study will examine two cohorts:

1. The initial diagnosis only cohort will include 3 patients with GCT who meet the inclusion criteria and have adequate tissue samples available in storage at the Pathology Department. One prospective blood and one tissue sample will be collected from each patient in this cohort. Tissue samples will come from the orchiectomy or virgin retro-peritoneal lymph node dissection (RPLND) that was done at initial diagnosis.
2. The late relapse cohort will include 3 patients with late relapse GCT who meet the inclusion criteria and have adequate tissue samples available in storage at the Pathology Department. One prospective blood and two tissue samples will be collected from each patient in this cohort. Tissue samples will come from the orchiectomy or virgin RPLND that was done at initial diagnosis and the other will come from the site of late relapse.

Patients in this cohort will have biopsies at the site of late relapse as part of their routine cancer treatment. No biopsies will be performed specifically for the purposes of this study. Tissue from the site of late relapse will also be requested from the Pathology Department.

One tube of blood will be collected from each subject during a routine clinical visit at baseline when a blood draw is already being done.

In summary, a total of 15 samples will be evaluated on this study. Consent for the use of tissue and blood collected for the purposes of this study will be obtained prior to any study procedures. Subjects who do not have adequate tissue samples available will be replaced.

• Study Type: Observational
• Enrollment (Actual): 6

Contacts and Locations

Study Locations

• United States
  • Indiana
    • Indianapolis, Indiana, United States, 46202
      • Indiana University Health Melvin and Bren Simon Cancer Center
    • Indianapolis, Indiana, United States, 46202
      • Indiana University Health Hospital

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: Non-Probability Sample

Study Population

Patients with germ cell tumor (GCT) (with a component of yolk sac tumor) at the time of the initial diagnosis or a late relapsed GCT.

Description

Eligible patients will have:

1. Germ cell tumor (GCT) (with a component of yolk sac tumor) at the time of the initial diagnosis or a late relapsed GCT (for the purposes of this study, late relapse will be defined as relapse > 2 years from the initial treatment of GCT).
2. Adequate tumor specimens available from the initial orchiectomy specimen or virgin retro-peritoneal lymph node dissection (RPLND).
3. Adequate tumor specimens available from any site of recurrent disease for patients accrued in the "late relapse" cohort.
4. Tumor specimens collected prior to start of chemotherapy in the "late relapse" cohort.
5. Age > 18 years
6. Willing to provide informed consent

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Initial diagnosis; The initial diagnosis only cohort will include 3 patients with germ cell tumor (GCT) who meet the inclusion criteria and have adequate tissue samples available in storage at the Pathology Department. One prospective blood and one tissue sample will be collected from each patient in this cohort. Tissue samples will come from the orchiectomy or virgin retro-peritoneal lymph node dissection (RPLND) that was done at initial diagnosis.	Genetic: Next generation genome sequencing; DNA will be extracted from each sample and assayed.
Late relapse; The late relapse cohort will include 3 patients with late relapse germ cell tumor (GCT) who meet the inclusion criteria and have adequate tissue samples available in storage at the Pathology Department. One prospective blood and two tissue samples will be collected from each patient in this cohort. Tissue samples will come from the orchiectomy or virgin retro-peritoneal lymph node dissection (RPLND) that was done at initial diagnosis and the other will come from the site of late relapse. Patients in this cohort will have biopsies at the site of late relapse as part of their routine cancer treatment. No biopsies will be performed specifically for the purposes of this study. Tissue from the site of late relapse will also be requested from the Pathology Department.	Genetic: Next generation genome sequencing; DNA will be extracted from each sample and assayed.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Compare genomic profiles of curable germ cell tumors with non curable germ cell tumors	Collection of tissue and blood samples from 6 patients for genomic testing	1 year

Collaborators and Investigators

• Sponsor: Nasser Hanna
• Investigators: Principal Investigator: Nasser Hanna, MD, Indiana University School of Medicine, Indiana University Simon Cancer Center

Study record dates

Study Major Dates

• Study Start (Actual): November 20, 2015
• Primary Completion (Actual): April 25, 2017
• Study Completion (Actual): April 25, 2017

Study Registration Dates

• First Submitted: November 9, 2015
• First Submitted That Met QC Criteria: February 8, 2016
• First Posted (Estimate): February 11, 2016

Study Record Updates

• Last Update Posted (Actual): August 8, 2018
• Last Update Submitted That Met QC Criteria: August 7, 2018
• Last Verified: August 1, 2018

More Information

Terms related to this study

• Keywords: Next generation genome sequencing; Late relapse; Genetic profiles
• Additional Relevant MeSH Terms: Pathologic Processes; Neoplasms by Histologic Type; Neoplasms; Disease Attributes; Neoplasms, Germ Cell and Embryonal; Recurrence
• Other Study ID Numbers: IUSCC-0540