Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in solid tumors

Alanna J Church; Yassmine Akkari; Kristin Deeb; Ravindra Kolhe; Fumin Lin; Elizabeth Spiteri; Daynna J Wolff; Lina Shao; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net

doi:10.1016/j.gim.2024.101070

Section E6.7-6.12 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in solid tumors

Genet Med. 2024 Apr;26(4):101070. doi: 10.1016/j.gim.2024.101070. Epub 2024 Feb 20.

Authors

Alanna J Church¹, Yassmine Akkari², Kristin Deeb³, Ravindra Kolhe⁴, Fumin Lin⁵, Elizabeth Spiteri⁶, Daynna J Wolff⁷, Lina Shao⁸; ACMG Laboratory Quality Assurance Committee. Electronic address: [email protected]⁹

Affiliations

¹ Department of Pathology, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
² The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
³ Department of Pathology, Emory University, Atlanta, GA.
⁴ Department of Pathology, Augusta University, Augusta, GA.
⁵ Department of Pathology and Laboratory Medicine, University of California at Los Angeles, Los Angeles, CA.
⁶ Department of Pathology, Stanford University, Palo Alto, CA.
⁷ Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC.
⁸ Department of Pathology and Pediatrics, University of Michigan, Ann Arbor, MI.
⁹ American College of Medical Genetics and Genomics, Bethesda, MD.

PMID: 38376505
DOI: 10.1016/j.gim.2024.101070

Abstract

Clinical cytogenomic studies of solid tumor samples are critical to the diagnosis, prognostication, and treatment selection for cancer patients. An overview of current cytogenomic techniques for solid tumor analysis is provided, including standards for sample preparation, clinical and technical considerations, and documentation of results. With the evolving technologies and their application in solid tumor analysis, these standards now include sequencing technology and optical genome mapping, in addition to the conventional cytogenomic methods, such as G-banded chromosome analysis, fluorescence in situ hybridization, and chromosomal microarray analysis. This updated Section E6.7-6.12 supersedes the previous Section E6.5-6.8 in Section E: Clinical Cytogenetics of the American College of Medical Genetics and Genomics Standards for Clinical Genetics Laboratories.

Keywords: Chromosomal microarray analysis; Fluorescence in situ hybridization; G-banded chromosome analysis; Optical genome mapping; Solid tumors.

Publication types

Practice Guideline
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Aberrations
Chromosomes
Genetics, Medical*
Genomics
Humans
In Situ Hybridization, Fluorescence / methods
Laboratories
Neoplasms* / diagnosis
Neoplasms* / genetics
United States