AI Article Synopsis
- The joint College of American Pathologists and American College of Medical Genetics and Genomics aims to improve the identification of chromosomal abnormalities in various specimens, especially hematologic neoplasms.
- A study covering 20 years (1999-2018) evaluated 288 chromosome challenges, focusing on those related to hematologic neoplasms, with 91 cases graded for abnormality recognition and karyotype nomenclature.
- Results show that the majority of laboratories performed well, with over 95% achieving the required consensus, although a few cases encountered challenges due to complex karyotypes and errors in recognition or nomenclature.
Article Abstract
Context.—: One goal of the joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee is to ensure the accurate detection and description of chromosomal abnormalities in both constitutional and neoplastic specimens, including hematologic neoplasms.
Objective.—: To report a 20-year performance summary (1999-2018) of conventional chromosome challenges focusing on hematologic neoplasms.
Design.—: A retrospective review was performed from 1999 through 2018 to identify karyotype challenges specifically addressing hematologic neoplasms. The overall performance of participants was examined to identify potential recurring errors of clinical significance.
Results.—: Of 288 total conventional chromosome challenges from 1999-2018, 87 (30.2%) were presented in the context of a hematologic neoplasm, based on the provided clinical history, specimen type, and/or chromosomal abnormalities. For these 87 hematologic neoplasm challenges, 91 individual cases were provided and graded on the basis of abnormality recognition and karyotype nomenclature (ISCN, International System for Human Cytogenomic [previously Cytogenetic] Nomenclature). Of the 91 cases, 89 (97.8%) and 87 (95.6%) exceeded the required 80% consensus for grading of abnormality recognition and correct karyotype nomenclature, respectively. The 2 cases (2 of 91; 2.2%) that failed to meet the 80% consensus for abnormality recognition had complex karyotypes. The 4 cases (4 of 91; 4.4%) that failed to meet the 80% consensus for correct karyotype nomenclature were the result of incorrect abnormality recognition (2 cases), missing brackets in the karyotype (1 case), and incorrect breakpoint designation (1 case).
Conclusions.—: This 20-year review demonstrates clinical cytogenetics laboratories have been and continue to be highly proficient in the detection and description of chromosomal abnormalities associated with hematologic neoplasms.
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| http://dx.doi.org/10.5858/arpa.2020-0089-CP | DOI Listing |
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