Conventional cytogenetic analysis of hematologic neoplasms: A 20-year review of proficiency test results from the college of American pathologists/American college of medical genetics and genomics cytogenetics committee

Daniel P. Larson, Yassmine M. Akkari, Daniel L. van Dyke, Gordana Raca, Juli Anne Gardner, Catherine W. Rehder, Kathleen A. Kaiser-Rogers, Penny Eagle, Jason A. Yuhas, Jun Gu, Reha M. Toydemir, Hutton Kearney, Laura K. Conlin, Guilin Tang, Michelle M. Dolan, Rhett P. Ketterling, Jess F. Peterson

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)176-190
Number of pages15
JournalArchives of Pathology and Laboratory Medicine
Volume145
Issue number2
DOIs
StatePublished - Feb 2021

Bibliographical note

Publisher Copyright:
© 2021 College of American Pathologists. All rights reserved.

Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.

PubMed: MeSH publication types

  • Journal Article
  • Review

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