TY - JOUR
T1 - Section E6.5 of the ACMG technical standards and guidelines
T2 - Chromosome studies for solid tumor abnormalities
AU - Cooley, Linda D.
AU - Mascarello, James T.
AU - Hirsch, Betsy
AU - Jacky, Peter B.
AU - Rao, P. Nagesh
AU - Saxe, Debra
AU - Rao, Kathleen W.
PY - 2009/12
Y1 - 2009/12
N2 - 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.
AB - 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.
KW - Cancer
KW - Chromosome
KW - Cytogenetics
KW - Fluorescence in situ hybridization
KW - Guidelines
KW - Solid tumor
UR - http://www.scopus.com/inward/record.url?scp=73849142664&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=73849142664&partnerID=8YFLogxK
U2 - 10.1097/GIM.0b013e3181bb7808
DO - 10.1097/GIM.0b013e3181bb7808
M3 - Review article
C2 - 20010366
AN - SCOPUS:73849142664
SN - 1098-3600
VL - 11
SP - 890
EP - 897
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 12
ER -