BJH - volume 15, issue 4, june 2024
N. Catarin MD, C. Lété PhD, R. Fernandez Carazo PhD, B. Koopmansch PhD, S. Franke PhD, W. Llorente , A. Guadagni , V. Bours MD, PhD, P. Beckers MD, M. Jamar MD, PhD, F. Lambert MD, C. Menten PhD
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)
Read moreBJH - volume 6, issue 4, october 2015
O. Ketelslegers MD, F. Eyskens MD, PhD, F. Boemer PhD, V. Bours MD, PhD, J-M. Minon MD, PhD, B. Gulbis MD, PhD
Although neonatal screening for sickle cell disease is one of the best tools for reducing mortality during infancy and early childhood, it is not part of the approved neonatal screening programme in Belgium. As epidemiological data on sickle cell disease are still incomplete in Belgium, we planned to screen the samples of newborns available in the biggest reference centre for approved neonatal screening in Flanders. From July to December 2013, a total of 18,989 newborns from 36 Flemish maternity wards were systematically screened, representing about 60% of the total number of births in Flanders. For the same period, results of the neonatal screening that is routinely performed for sickle cell disease in three other Belgian centres were collected. Overall, 39,599 newborns were screened, representing about two-thirds of Belgian births for this period. With an incidence of sickle cell disease and sickle cell trait of 1/2,329 and 1/77, respectively, sickle cell disease is the most frequently inherited disease observed in the population tested; the highest incidences were registered in urban areas. In addition, screening techniques identified 122 other clinically significant haemoglobin (Hb) variant carriers (83 for HbC, twenty for HbE, thirteen for HbD-Punjab, and six for HbO-Arab) and two HbC diseases. Carriers of clinically significant Hb variants were observed in almost all the maternity wards included in the study, showing a wide dispersal of populations at risk. These epidemiological data remind us of the warnings and recommendations from the World Health Organization, urging policy-makers to consider the most appropriate strategy to prevent and treat patients with sickle cell disease in Belgium.
(BELG J HEMATOL 2015;6(4): 135–41)
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