Assessment of the optical genome mapping technique in splenic marginal zone lymphoma: a comparison with cytogenomic data

Teixidó Mulet, Mar

Assessment of the optical genome mapping technique in splenic marginal zone lymphoma: a comparison with cytogenomic data

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Teixidó Mulet, M. Assessment of the optical genome mapping technique in splenic marginal zone lymphoma: a comparison with cytogenomic data. 2023. handle: http://hdl.handle.net/10230/57679

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Abstract

Splenic marginal zone lymphoma (SMZL) is a genetically heterogeneous entity, entailing the need for further genetic characterization to deepen the knowledge of its prognosis and optimize its diagnosis. Karyotype and FISH assays remain the standard of care (SOC) for hematologic malignancies analysis, techniques that often fail to unveil the genetic complexity of the tumor cells. Optical genome mapping (OGM) is a novel high-resolution non-sequencing technique, recently proposed as a promising diagnostic alternative. Herein, we assess the OGM technique in the genetic characterization of 14 SMZL patients, comparing it to SOC cytogenomic results. OGM uncovered 24 cytogenetically cryptic variants, providing finer alteration breakpoints, unveiling the origin of derivative chromosomes seen in the karyotype, and, thanks to its genelevel resolution, included involved genes relevant to SMZL. The OGM results showed a 70% concordance with SOC techniques, lower than reported in recently published literature in acute leukemias, attributable to telomere and centromere involvement of alterations or a low variant allele frequency (VAF), current limitations which would need further addressing. These results demonstrate the potential advantages of OGM for mature B-cell neoplasms characterization, encouraging the implementation of the OGM technology in the clinical setting alongside traditional cytogenetic techniques.