PMID- 20010366 OWN - NLM STAT- MEDLINE DCOM- 20100305 LR - 20220210 IS - 1530-0366 (Electronic) IS - 1098-3600 (Linking) VI - 11 IP - 12 DP - 2009 Dec TI - Section E6.5 of the ACMG technical standards and guidelines: chromosome studies for solid tumor abnormalities. PG - 890-7 LID - 10.1097/GIM.0b013e3181bb7808 [doi] 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. FAU - Cooley, Linda D AU - Cooley LD AD - Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, The University of Missouri Medical School Kansas City, Kansas City, Missouri, USA. lcooley@cmh.edu FAU - Mascarello, James T AU - Mascarello JT FAU - Hirsch, Betsy AU - Hirsch B FAU - Jacky, Peter B AU - Jacky PB FAU - Rao, P Nagesh AU - Rao PN FAU - Saxe, Debra AU - Saxe D FAU - Rao, Kathleen W AU - Rao KW CN - Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee LA - eng PT - Guideline PT - Journal Article PL - United States TA - Genet Med JT - Genetics in medicine : official journal of the American College of Medical Genetics JID - 9815831 SB - IM MH - Adult MH - Child MH - Chromosome Aberrations MH - Clinical Laboratory Techniques/*standards MH - Cytogenetic Analysis/methods/*standards MH - Humans MH - In Situ Hybridization, Fluorescence/methods/standards MH - Karyotyping MH - Neoplasms/*diagnosis/*genetics MH - Prognosis EDAT- 2009/12/17 06:00 MHDA- 2010/03/06 06:00 CRDT- 2009/12/17 06:00 PHST- 2009/12/17 06:00 [entrez] PHST- 2009/12/17 06:00 [pubmed] PHST- 2010/03/06 06:00 [medline] AID - S1098-3600(21)04010-7 [pii] AID - 10.1097/GIM.0b013e3181bb7808 [doi] PST - ppublish SO - Genet Med. 2009 Dec;11(12):890-7. doi: 10.1097/GIM.0b013e3181bb7808.