Patient case: 86-year-old female with melanoma; genetic feature: high tumor mutational burden

Clinical trial: S9431: Studying Genes and Immune Response in Tumor Samples From Patients With Locally Advanced or Metastatic Melanoma

Summary: RATIONALE: Studying samples of tumor tissue and blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer. It may also help doctors predict how patients will respond to treatment.
  PURPOSE: This laboratory study is assessing genes and immune response in tumor samples from patients with locally advanced or metastatic melanoma.

Detailed description: OBJECTIVES:
  -  Characterize the frequency of non-random cytogenetic abnormalities in regional and distant melanoma metastases and explore their association with clinical outcome of patients with metastatic melanoma.
  -  Characterize the frequency of specific genetic alterations at either the DNA, mRNA, or protein level and explore the association of these abnormalities with clinical outcome in these patients.
  -  Characterize the host immunologic response to metastatic melanoma by determining whether the in vivo pattern of cytokine expression is consistent with specific subsets of T helper cells within melanoma deposits and to explore whether host immunologic response varies based on the site of metastatic disease and/or correlates with clinical outcome in these patients.
  -  Obtain peripheral blood, sera, and paraffin embedded tumor blocks from these patients.
  -  Correlate the most prevalent gene copy alteration observed in metastatic disease with the risk of progression in tissue samples from patients registered on SWOG-9035 (primary melanoma).
  OUTLINE: Fresh and snap frozen tumor tissue samples are obtained from biopsy or surgical procedures in the coordinated study. Specimens undergo mRNA and DNA analysis of tumor-related genes and cytokine gene expression. Peripheral blood samples are obtained and processed for sera and mononuclear cell testing. Tumor tissue samples embedded in paraffin or on unstained slides are also obtained.
  PROJECTED ACCRUAL: Approximately 120 patients will be accrued for this study within 3-4 years.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of stage III or IV metastatic melanoma
  -  Concurrent enrollment on a SWOG-coordinated melanoma treatment study (within 56 days of registration on this study) OR
  -  Previously enrolled on and eligible for at least 1 SWOG-coordinated melanoma study and scheduled to undergo biopsy/surgery for regional lymph node or disseminated metastatic disease OR
  -  Concurrent enrollment on SWOG-9430 (FISH analysis)
  PATIENT CHARACTERISTICS:
  Age
  -  Not specified
  Performance status
  -  Not specified
  Life expectancy
  -  Not specified
  Hematopoietic
  -  Not specified
  Hepatic
  -  Not specified
  Renal
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  Biologic therapy
  -  Not specified
  Chemotherapy
  -  Not specified
  Endocrine therapy
  -  Not specified
  Radiotherapy
  -  Not specified
  Surgery
  -  Not specified
  Other
  -  Not previously enrolled on SWOG-9431

Relevance to patient case: not relevant