S. Franke PhD

Current advances in cytogenomics – Implementation of Optical Genome Mapping into diagnostic workflows for haematological neoplasms: A Belgian Cytogenomic Group for Haemato-Oncology (BCG-HO) position statement

SUMMARY

Genomic abnormalities play an increasingly important role in prognostication and classification of haematological malignancies (HM), as evidenced by their continual integration into updated classification and risk assessment models. Optical Genome Mapping (OGM) is a relatively new high-resolution technology that offers novel opportunities to assess chromosome abnormalities, increasing the detection yield of clinically relevant abnormalities and allowing rationalisation of diagnostic pathways by abrogating the need for multiple complementary tests. Furthermore, it could streamline laboratory’s technical pipelines, avoiding the need for multiple disease specific workflows. Given these findings, OGM is currently being implemented into the diagnostic workflow, as a first line test, by numerous laboratories worldwide and is being validated with view to implementation in many more, including Belgium. Here we propose recommendations for implementation of OGM testing in the routine diagnostic workup of HM.

(BELG J HEMATOL 2024;15(6):233–7)

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Optical genome mapping (Bionano – Saphyr^®) for AML associated with cryptic chromosomal recurrent abnormality

SUMMARY

Here, we report the diagnostic work-up of a thirty-three-year-old woman presenting with 77% bone marrow myeloid blasts. Conventional cytogenetic did not show any recurrent abnormality but four mutations were found in three genes: FLT3, CEBPA and IDH1. This AML was considered “AML with CEBPA mutation” (2022 WHO classification) with an intermediate prognosis according to the 2022 ELN recommendations. On top of that, the newly described Optical Genome Mapping (OGM) technology was used to search for a potential structural variant. Using this assay, we detected a NUP98::NSD1 fusion in the bone marrow cells. This infrequent but recurrent translocation was subsequently confirmed by specific FISH and RNA-sequencing (Archer^®). It is associated with high induction failure and poor survival in AML. In summary, the OGM approach can efficiently detect cryptic chromosomal aberrations in AML, which could change the prognosis and guide the patient’s treatment.

(BELG J HEMATOL 2024;15(4):172–5)

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O.7 NOTCH1 c.7544–7545 delCt mutation identifies a subgroup of lymphocytic leukemia patients with poor outcome

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