TY - JOUR
T1 - Section E6.1–6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards
T2 - Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodes
AU - ACMG Laboratory Quality Assurance Committee
AU - Akkari, Yassmine
AU - Baughn, Linda B.
AU - Kim, Annette
AU - Karaca, Ender
AU - Raca, Gordana
AU - Shao, Lina
AU - Mikhail, Fady M.
N1 - Publisher Copyright:
© 2023 American College of Medical Genetics and Genomics
PY - 2024/4
Y1 - 2024/4
N2 - 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.
AB - 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.
KW - Bone marrow
KW - Cancer cytogenetics
KW - Clonal chromosomal abnormalities
KW - Hematologic neoplasms
KW - Lymph nodes
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U2 - 10.1016/j.gim.2023.101054
DO - 10.1016/j.gim.2023.101054
M3 - Article
C2 - 38349293
AN - SCOPUS:85189531781
SN - 1098-3600
VL - 26
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 4
M1 - 101054
ER -