Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities

Linda D. Cooley, James T. Mascarello, Betsy Hirsch, Peter B. Jacky, P. Nagesh Rao, Debra Saxe, Kathleen W. Rao

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations


PURPOSE: Cytogenetic analysis of tumor tissue detects clonal abnormalities. The information obtained from these studies is utilized for diagnosis, prognosis, and patient management. METHODS: The Working Group of the Laboratory Quality Assurance Committee of the American College of Medical Genetics provides these Standards and Guidelines for chromosome studies for solid tumors abnormalities as a resource for clinical cytogenetic laboratories. RESULTS: The guidelines incorporate aspects of sample procurement, handling, processing, harvesting, analysis, quality control, and quality assurance. It is recommended that all pediatric solid tumors be studied by cytogenetic analysis when feasible due to the clinical and therapeutic implications of the genetic abnormalities. Cytogenetic analysis of certain adult solid tumors also provides information that impacts diagnosis and therapeutics. Molecular cytogenetic analysis or fluorescence in situ hybridization (FISH) may be a primary or secondary method of evaluation of the tumor tissue. FISH can document a specific molecular event, e.g. gene rearrangement, provide a rapid result to aid in the differential diagnosis or planning of therapy, clarify chromosome anomalies, or assess gene amplification. CONCLUSION: Genetic analysis adds valuable information to the understanding of and therapeutic approach to solid tumors. Laboratories may use their professional judgment to make modifications or additions to these guidelines.

Original languageEnglish (US)
Pages (from-to)890-897
Number of pages8
JournalGenetics in Medicine
Issue number12
StatePublished - Dec 2009


  • Cancer
  • Chromosome
  • Cytogenetics
  • Fluorescence in situ hybridization
  • Guidelines
  • Solid tumor


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