Fluorescence in situ hybridization (FISH) remains the gold-standard clinical assay to detect genetic abnormalities in multiple myeloma (MM). However, FISH panel design, use of conventional chromosome banding analysis and reporting practices have been reported to vary among laboratories. Therefore, standardization in FISH testing and reporting practices is needed to improve report clarity and avoid misinterpretation. The recommendations in this paper represent a consensus of our Cancer Genomics Consortium Plasma Cell Neoplasm Working Group, comprising a joint panel of cytogenetic laboratory directors and clinical investigators with expertise in the diagnosis, risk stratification, and treatment of multiple myeloma. Prior to developing these consensus recommendations, we performed a full literature review and conducted a survey of 102 oncologists to assess current variations and challenges in MM cytogenetic/FISH testing and reporting. Our guidelines establish best practices for the optimization of FISH panel selection, and recommendations for standardized reporting of cytogenetic results to align with the 2025 International Myeloma Society (IMS)/International Myeloma Working Group (IMWG) Updated Risk Stratification.
荧光原位杂交(FISH)仍是检测多发性骨髓瘤(MM)遗传学异常的金标准临床检测方法。然而，据报告各实验室在FISH检测组合设计、常规染色体显带分析应用及报告实践方面存在差异。因此，需要统一FISH检测与报告实践规范，以提升报告清晰度并避免结果误判。本文提出的建议代表我们癌症基因组学联盟浆细胞肿瘤工作组的共识，该工作组由具有多发性骨髓瘤诊断、风险分层和治疗专业知识的细胞遗传学实验室主任与临床研究人员联合组成。在制定这些共识建议前，我们完成了全面的文献综述，并对102名肿瘤学家开展调研，以评估当前多发性骨髓瘤细胞遗传学/FISH检测与报告中存在的差异和挑战。我们的指南建立了优化FISH检测组合选择的最佳实践方案，并提出了细胞遗传学结果标准化报告建议，以契合2025年国际骨髓瘤学会(IMS)/国际骨髓瘤工作组(IMWG)更新的风险分层标准。
肿瘤(癌症)患者之家