H. Devos MD

P.44 Donor cell-derived acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation: molecular confirmation by next-generation sequencing

Targeted next generation DNA sequencing for the detection of clonal haematopoiesis in idiopathic cytopaenia of undetermined significance (ICUS)

SUMMARY

Patients lacking diagnostic criteria for myelodysplastic syndrome, but who show an unexplained persistent cytopaenia are classified as patients suffering from idiopathic cytopaenia of undetermined significance (ICUS). A fraction of these patients carry somatic mutations in genes which are also mutated in myeloid neoplasms. The significance of these mutations in ICUS patients is not well known and only few research papers have tried to correlate them with clinical outcome. ICUS patients carrying somatic mutations seem to have a higher progression rate to myeloid malignancies compared to unmutated patients. Some mutation profiles also show lower overall survival, similar to patients with (low-risk) myelodysplastic syndrome. Therefore, it seems useful to screen for somatic mutations in cytopaenic patients. The goal of this paper is to review recent literature regarding the significance of somatic mutations in cytopaenic patients and propose a screening protocol by evaluating a test protocol at the AZ Sint-Jan hospital Brugge-Oostende.

(BELG J HEMATOL 2019;10(6):231–40)

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)

Spuriously high MCV in a patient with diabetic ketoacidosis

SUMMARY

We report a case of a falsely increased mean corpuscular volume (MCV) due to severe hyperglycaemia in a patient with diabetic ketoacidosis. This phenomenon results from in vitro swelling of hyperosmolar red blood cell size when diluted in an iso-osmolar buffer of a haematology analyser, and does not reflect a true macrocytosis in vivo. The magnitude of this effect is dependent on the glucose concentration of the sample and time of incubation prior to analysis. Haematology analysers from three different manufacturers were found equally sensitive to this phenomenon. Therefore, it is suggested to use reluctance when reporting and interpreting MCV results in the case of severe hyperglycaemia to avoid unnecessary additional investigation.

(BELG J HEMATOL 2019;10(6):250–4)

PP48 Validation of first trimester non-invasive fetal RhD genotyping for targeted antenatal anti-D prophylaxis

P07 Refractory mediastinal myeloid sarcoma preceding an acute myeloid leukemia with t(10;11) chromosome translocation

P12 Diagnostic utility of the lymphoid screening tube for Ogata score calculation in MDS investigation