Giguère Amélie, Raymond-Bouchard Isabelle, Collin Vanessa, Claveau Jean-Sébastien, Hébert Josée, LeBlanc Richard
Cytogenetics Laboratory, Maisonneuve-Rosemont Hospital, Montreal, QC H1T 2M4, Canada.
Division of Hematology, Oncology and Transplantation, Department of Medicine, Maisonneuve-Rosemont Hospital, Université de Montréal, Montreal, QC H1T 2M4, Canada.
Cancers (Basel). 2023 Sep 22;15(19):4687. doi: 10.3390/cancers15194687.
Fluorescence in situ hybridization (FISH) on enriched CD138 plasma cells is the standard method for identification of clinically relevant genetic abnormalities in multiple myeloma. However, FISH is a targeted analysis that can be challenging due to the genetic complexity of myeloma. The aim of this study was to evaluate the potential of optical genome mapping (OGM) to detect clinically significant cytogenetic abnormalities in myeloma and to provide larger pangenomic information. OGM and FISH analyses were performed on CD138-purified cells of 20 myeloma patients. OGM successfully detected structural variants (SVs) ( and rearrangements), copy number variants (CNVs) (17p/ deletion, 1p deletion and 1q gain/amplification) and aneuploidy (gains of odd-numbered chromosomes, monosomy 13) classically expected with myeloma and led to a 30% increase in prognosis yield at our institution when compared to FISH. Despite challenges in the interpretation of OGM calls for CNV and aneuploidy losses in non-diploid genomes, OGM has the potential to replace FISH as the standard of care analysis in clinical settings and to efficiently change how we identify prognostic and predictive markers for therapies in the future. To our knowledge, this is the first study highlighting the feasibility and clinical utility of OGM in myeloma.
对富集的CD138浆细胞进行荧光原位杂交（FISH）是鉴定多发性骨髓瘤临床相关基因异常的标准方法。然而，由于骨髓瘤的基因复杂性，FISH是一种靶向分析，可能具有挑战性。本研究的目的是评估光学基因组图谱（OGM）检测骨髓瘤临床显著细胞遗传学异常的潜力，并提供更大的泛基因组信息。对20例骨髓瘤患者的CD138纯化细胞进行了OGM和FISH分析。OGM成功检测到骨髓瘤经典预期的结构变异（SVs）（易位和重排）、拷贝数变异（CNVs）（17p/缺失、1p缺失和1q获得/扩增）和非整倍体（奇数号染色体增加、13号染色体单体），与FISH相比，在我们机构使预后检出率提高了30%。尽管在解释OGM对非二倍体基因组中CNV和非整倍体缺失的检测结果时存在挑战，但OGM有潜力取代FISH成为临床环境中的标准护理分析方法，并有效改变我们未来识别治疗预后和预测标志物的方式。据我们所知，这是第一项强调OGM在骨髓瘤中的可行性和临床实用性的研究。
