Patient case: 68-year-old male with colon cancer; genetic feature: MLH1 methylation suppression (microsatellite instability)

Clinical trial: Genetic Study of Young Patients With Colorectal Cancer

Summary: RATIONALE: Identifying gene mutations (microsatellite instability) may allow doctors to plan effective treatment for patients who develop colorectal cancer at an early age.
  PURPOSE: Genetic trial to determine the significance of gene mutations in helping predict the outcome of treatment in patients who develop stage I, stage II, or stage III colorectal cancer at an early age.

Detailed description: OBJECTIVES:
  -  Evaluate the prognostic significance (e.g., overall survival) of microsatellite instability (MSI) status in patients with early age-of-onset stage I-III colorectal cancer, assuming the presence of a quantitative interaction between MSI status and family history of cancer.
  -  Evaluate the development of metachronous neoplasms in this patient population.
  -  Evaluate the histologic features and genetic changes associated with hereditary nonpolyposis colorectal cancer in this patient population.
  OUTLINE: This is a multicenter study. Patients are stratified according to family history using the Amsterdam II criteria for hereditary nonpolyposis colorectal cancer (positive vs negative).
  Patients undergo baseline colonoscopy before or within 6 months of initial curative resection and then surveillance colonoscopy at 1, 3, and 5 years (+/- 6 months) after resection. The number, size, location, histology, and method of removal of polyps are documented at the time of colonoscopy. Patients also undergo microsatellite instability (MSI) status testing and complete family history questionnaires at baseline.
  The prognostic significance of family history and MSI status is evaluated. The individual histologic features of the tumors are compared with the MSI status to determine their predictive value. The histologic features are also correlated with outcome to determine their prognostic significance.
  Patients may be referred for genetic counseling.
  A certificate of confidentiality protecting the identity of research participants in this project has been issued by the National Cancer Institute.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of stage I-III adenocarcinoma of the colon or rectum
  -  Must have undergone an initial curative resection within the past year
  -  No colon or rectal cancer resection that does not allow for definitive T or N staging
  -  No initial post-surgical surveillance colonoscopy prior to study entry
  -  Must have a pathology specimen, with representative normal and tumor tissues, available for submission to the ACOSOG Central Specimen Bank prior to study entry
  -  No personal or family history of familial adenomatous polyposis
  -  No recurrent colorectal cancer
  PATIENT CHARACTERISTICS:
  Age
  -  18 to 49 at first diagnosis
  Other
  -  Must be willing to provide a family cancer history to the study team and continue with follow-up colonoscopic surveillance
  -  No other malignancy within the past 5 years except completely resected cervical cancer or nonmelanoma skin cancer
  -  No evidence of recurrence of other prior malignancy
  PRIOR CONCURRENT THERAPY:
  Radiotherapy
  -  No prior pelvic radiotherapy for rectal cancer
  -  No concurrent preoperative pelvic radiotherapy for rectal cancer
  Surgery
  -  See Disease Characteristics

Relevance to patient case: not relevant