BJH - volume 15, issue 4, june 2022
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, 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 15, issue 3, may 2024
K. Callebaut MPharm, L. Deleu MD, D. Deeren MD, E. Verhoye MPharm , I. Van Haute MD
The bone marrow of a 69-year-old female patient, post-allogeneic stem cell transplantation, exhibited extensive hemophagocytosis in follow up. The extent of hemophagocytosis prompted investigation for hemophagocytic lymphohistiocytosis (HLH). While the diagnosis was not straightforward, clinical and biochemical features were consistent with HLH, and in this case more specific with post-transplantation HLH, a rare form of secondary HLH.
(BELG J HEMATOL 2024;15(3):122–4)
Read moreBJH - volume 15, issue 3, may 2024
C. Maquet MD, B. De Prijck MD, A. Jaspers MD, PhD, F. Tassin MD, PhD, A. Keutgens MD, PhD, Y. Beguin MD, PhD, A. De Voeght MD
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare aggressive haematological disease with a grim prognosis. The majority of patients at diagnosis are elderly (typical age range: 60 to 70 years) and seldom fit enough to receive intensive induction therapy. We report here the case of a 76-year-old patient with significant cardiac comorbidity at the time of the diagnosis of BPDCN with bone marrow involvement. He achieved haematologic complete remission with venetoclax as first-line therapy with preservation of a good quality of life, an almost exclusively outpatient care and transfusion independency. The only adverse event was a grade 4 neutropenia without any infectious complication.
(BELG J HEMATOL 2024;15(3):125–9)
Read moreBJH - volume 15, issue 2, march 2024
O. Mortelé PhD, K. Ver Elst MD, S. Vermeiren MD, A. Meskal PharmD, S. Schouwers PharmD, J. de Bie PhD, J. Lemmens MD, L. Rutsaert MD, C. Schuermans MD, T. Eyckmans MD, S. Weekx PhD
A 71-year-old man with persistent leukopenia and thrombocytopenia was referred to the haematology department with a suspicion of a myelodysplastic neoplasm (MDS). Upon presentation, the patient was asymptomatic. Peripheral blood analysis confirmed leukopenia and thrombocytopenia. Furthermore, IgG was elevated, while IgM, total protein and the kappa-lambda free light chain (FLC) ratio were within normal ranges. Protein electrophoresis pattern showed a prominent monoclonal peak in the gamma globulin region. The monoclonal peak was identified as IgG heavy chain without corresponding kappa or lambda light chains by immunofixation analysis. Bone marrow cytology did not provide evidence for MDS; however, an increased plasmocytosis of 8% was detected. Immunophenotyping showed the presence of 6.6% CD19+, CD38++, CD138+, CD45+ and CD56- plasma cells without cytoplasmic light chain expression. The latter was confirmed by histologic review of the bone marrow biopsy using immunohistochemical staining. Immunoglobin gene rearrangement analysis was indicative for the presence of a monoclonal B-cell or plasma cell neoplasm. On positron emission tomography (PET)-scan only a mild splenomegaly was seen. Based on all these results, the diagnosis of a gamma heavy chain disease (gHCD) was made. As the patient was asymptomatic, treatment was not indicated. Blood count and health status were unchanged at a check-up six months later. Further follow-up is performed every six months. This case report presents the diagnostic work-up of a patient with gHCD. Laboratory analysis contributing to the diagnosis of gHCD included protein electrophoresis, immunofixation, bone marrow cytology, immunophenotyping, molecular analysis and pathological examinations of a bone biopsy.
(BELG J HEMATOL 2024;15(2):49–53)
Read moreBJH - volume 15, issue 2, march 2024
L. Verbeke MD, E. Roussel MD, PhD, C. Maes MD, K. Coppens MD
Renal tumours are often incidentally detected in routine imaging studies. Whereas renal cell carcinoma (RCC) represents the mainstay of malignant tumours arising from the kidney, other tumoural entities might also present as a single, localised renal mass. Primary renal lymphoma (PRL) is a distinct, rare and often aggressive presentation of lymphoma confined to the kidney, often mistaken for RCC or other renal tumours. It is defined as a non-Hodgkin lymphoma of the kidney without any extra renal lymphatic disease. Symptoms are often haematuria or flank pain. In 50% of the cases, patients are asymptomatic. The pathophysiology is not well understood. Imaging can be helpful in making the right diagnosis, but renal mass biopsy appears to be more sensitive. The treatment of choice is chemotherapy. The prognosis is rather poor, with a median survival of less than one year. Since the introduction of the new chemotherapy combination with rituximab, the prognosis is slightly better. PRL needs to be a differential diagnosis in renal tumours, especially with atypical tumour characteristics. This article presents a recent case of primary renal lymphoma.
(BELG J HEMATOL 2024;15(2):54–7)
Read moreBJH - volume 14, issue 8, december 2023
M. Pirotte MD, A. De Voeght MD, G. Vertenoeil MD, PhD, M. Vasbien MD, H. Paridaens MD, J. Somja MD, PhD, P. Collins MD, F. Lambert MD
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)
Read moreBJH - volume 14, issue 8, december 2023
O. Mortelé PhD, K. Ver Elst MD, S. Vermeiren MD, S. Weekx PhD
A 50-year-old male patient admitted to the hospital with renal insufficiency, anaemia, monoclonal protein (IgG kappa) and uremic encephalopathy was screened for malaria due to increasing serum CRP-levels and neurological decline combined with an indistinct travel history. The malaria rapid diagnostic test (RDT) revealed a positive result; however, no malaria parasites were detected by the pathologist through microscopic evaluation of the thick and thin blood smear. Additional tests were performed to investigate potential causes of the false positive malaria RDT such as the presence of heterophilic antibodies, the monoclonal protein and rheumatoid factor. This case presented a false positive malaria RDT result due to a confirmed interference of heterophilic antibodies. The interference could be omitted using a heterophilic antibody-blocking agent.
(BELG J HEMATOL 2023;14(8):343–6)
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