Vanderscheldon Rachel K, Sukov William R, Gardner Juli-Anne, Rehder Catherine W, Levy Brynn, Velagaleti Gopalrao V, Toydemir Reha M, Tang Guilin, Boles Brittany, Cao Yang, Mixon Christopher, Zou Ying S, Astbury Caroline, Tsuchiya Karen D, Peterson Jess F
Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Genes (Basel). 2024 Dec 17;15(12):1612. doi: 10.3390/genes15121612.
The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation of cytogenetic abnormalities in solid tumors. Review and analyze 25 years (1999-2023) of solid tumor chromosome analysis PT results, utilizing G-banded karyograms. A retrospective review of results from 1999 to 2023 was performed, identifying the challenges addressing solid tumors. The chromosomal abnormalities and overall performance were evaluated. A total of 21 solid tumor challenges were administered during the period 1999-2018. No solid tumor challenges were administered during the period 2019-2023. Challenges consisted of metaphase images and accompanying clinical history for the evaluation of numerical and/or structural abnormalities. All 21 cases reached 80% grading consensus for abnormality recognition. However, five cases (24%) failed to reach consensus for nomenclature reporting by participating laboratories. These cases illustrate errors in reporting chromosomal abnormalities, including whole-arm translocations and those involving sex chromosomes. In addition, they highlight the challenges with differentiation of terminal and interstitial deletions, difficulties in identifying correct breakpoints, and omission of brackets in neoplastic cases. This comprehensive 25-year review demonstrates the exceptional proficiency of cytogenetic laboratories in accurately identifying chromosome abnormalities in solid tumors, while also highlighting the challenges of reporting specific types of chromosomal abnormalities.
美国病理学家学会/美国医学遗传学与基因组学学会联合细胞遗传学委员会致力于通过能力验证（PT）项目确保临床细胞遗传学检测实验室的能力和专业水平，该项目针对此类实验室提供的各种临床检测，包括实体瘤细胞遗传学异常的评估。利用G带核型图回顾和分析25年（1999 - 2023年）实体瘤染色体分析PT结果。对1999年至2023年的结果进行回顾性分析，确定实体瘤检测面临的挑战。评估染色体异常情况和整体表现。1999年至2018年期间共进行了21次实体瘤检测挑战。2019年至2023年期间未进行实体瘤检测挑战。挑战包括中期图像及相关临床病史，用于评估数目和/或结构异常。所有21例病例在异常识别方面均达成了80%的分级共识。然而，有5例（24%）参与实验室在命名报告方面未能达成共识。这些病例说明了染色体异常报告中的错误，包括整条染色体易位以及涉及性染色体的易位。此外，它们凸显了区分末端和中间缺失的挑战、确定正确断点的困难以及肿瘤病例中括号遗漏的问题。这项为期25年的全面回顾表明，细胞遗传学实验室在准确识别实体瘤染色体异常方面具有卓越的专业水平，同时也凸显了报告特定类型染色体异常的挑战。
