F. Lambert MD

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)

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS syndrome) with multiple thromboembolism events: A Belgian case report

SUMMARY

VEXAS syndrome, an acquired autoinflammatory syndrome, is classified within the complex of autoinflammatory diseases (AID), arising from aberrant changes in the innate immune system due to acquisition of somatic mutation of the UBA1 gene in bone marrow cells. This recently identified syndrome is characterised by systemic inflammation, chondritis, neutrophilic dermatosis, pulmonary involvement, thrombosis, macrocytosis and cytopenia in mature men. We present a case study of a 67-years-old man exhibiting multiple thrombotic manifestations without any known underlying aetiology or haemopathy. This report emphasises the crucial collaboration between clinicians, cytologists and geneticists highlighting the pivotal role of UBA1 mutation screening in the diagnostic process to confirm the final diagnosis.

(BELG J HEMATOL 2023;14(8):336–42)

Diagnostic testing in myeloid malignancies by next-generation sequencing: recommendations from the Commission Personalised Medicine

SUMMARY

Molecular diagnostics have an increasing impact on diagnosis, risk stratification and targeted treatment in haemato-oncology. In the framework of a pilot study for the implementation of next-generation sequencing in the Belgian healthcare system, the Commission of Personalised Medicine was founded to give professional and evidence-based advice on the molecular analysis in haemato-oncology. This paper describes its recommendations for NGS analysis in myeloid malignancies. In addition, the minimally required set of genes that must be analysed is defined and algorithms for molecular workflow in myeloid malignancies are proposed.

(BELG J HEMATOL 2019;10(6):241–9)

P41 A 54-year-old woman with a myeloid neoplasm associated with eosinophilia and t(5;12) (q33;p13)/PDGRFB rearrangement: case report and mini-review of the literature

P4.07 Identification of a TPM3-PDGFRB fusion transcript and its chromosomal breakpoints by RNA-Seq in a case of Chronic Eosinophilic Leukemia

P4.08 Two cases of atypical CALR mutations in MPN patients

P1.08 Multiparameter flow cytometric analysis of composite lymphoma: case report of a mantle cell lymphoma associated with a B-cell chronic lymphocytic leukemia and an aberrant T cell subset