Section E6.1-6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodes

Yassmine Akkari; Linda B Baughn; Annette Kim; Ender Karaca; Gordana Raca; Lina Shao; Fady M Mikhail; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net

doi:10.1016/j.gim.2023.101054

Section E6.1-6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodes

Genet Med. 2024 Apr;26(4):101054. doi: 10.1016/j.gim.2023.101054. Epub 2024 Feb 13.

Authors

Yassmine Akkari¹, Linda B Baughn², Annette Kim³, Ender Karaca⁴, Gordana Raca⁵, Lina Shao³, Fady M Mikhail⁶; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net⁷

Affiliations

¹ The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
² Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
³ Department of Pathology, University of Michigan, Ann Arbor, MI.
⁴ Department of Pathology, Baylor University Medical Center, Dallas, TX; Texas A&M School of Medicine, Texas A&M University, Dallas, TX.
⁵ Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA; Keck School of Medicine, University of Southern California, Los Angeles, CA.
⁶ Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
⁷ American College of Medical Genetics and Genomics, Bethesda, MD.

PMID: 38349293
DOI: 10.1016/j.gim.2023.101054

Abstract

Cytogenomic analyses of acquired clonal chromosomal abnormalities in neoplastic blood, bone marrow, and/or lymph nodes are instrumental in the clinical management of patients with hematologic neoplasms. Cytogenetic analyses assist in the diagnosis of such disorders and can provide important prognostic information. Furthermore, cytogenetic studies can provide crucial information regarding specific genetically defined subtypes of these neoplasms that may have targeted therapies. At time of relapse, cytogenetic analysis can confirm recurrence of the original neoplasm, detect clonal disease evolution, or uncover a new unrelated neoplastic process. This section deals specifically with the technical standards applicable to cytogenomic studies of acquired clonal chromosomal abnormalities in neoplastic blood, bone marrow, and/or lymph nodes. This updated Section E6.1-6.6 supersedes the previous Section E6 in Section E: Clinical Cytogenetics of the American College of Medical Genetics and Genomics Technical Standards for Clinical Genetics Laboratories.

Keywords: Bone marrow; Cancer cytogenetics; Clonal chromosomal abnormalities; Hematologic neoplasms; Lymph nodes.

Publication types

Practice Guideline

MeSH terms

Bone Marrow / pathology
Chromosome Aberrations
Genetics, Medical*
Genomics
Humans
Laboratories
Lymph Nodes
Neoplasms* / diagnosis