BJH - volume 15, issue 6, october 2024
E. De Backer MD, K. Deiteren MD, A. De Vooght MD, S. Libbrecht MD, S. De Bruijn MD
Myeloproliferative neoplasms (MPN) consist of a heterogeneous group of chronic hematological disorders currently classified according to their clinical, phenotypical, and genomic features. Co-existence of JAK2 V617F mutation and BCR::ABL1 fusion gene have been described earlier. However, the concomitant diagnosis of chronic myeloid leukaemia (CML) and myelodysplastic/myeloproliferative neoplasm overlap syndrome with SF3B1 mutation and thrombocytosis (MDS/MPN-SF3B1-T) has not been reported before. We present a case of a 71-year-old female, known with a previous diagnosis of JAK2 V617F mutated MPN and subsequent diagnosis of BCR::ABL1-positive CML and MDS/MPN-SF3B1-T, developing fulminant thrombocytosis (5.481×10^9/L), necessitating thrombocytapheresis and making this case unique.
(BELG J HEMATOL 2024;15(6):238–45)
Read moreBJH - volume 15, issue 6, october 2024
T. Van Weyenbergh MD, V. Maertens MD, M. Lins MD
Interplay between drug-induced agranulocytosis (DIA) and autoimmune disease is widely suggested in literature. However, cases of DIA in mixed connective tissue disease (MCTD) are yet to be reported. A 49-year-old woman taking terbinafine presented with acute fever, parotitis and pericarditis. Laboratory analysis revealed severe inflammation (CRP 434 mg/L) with agranulocytosis, rapidly recovering after terbinafine discontinuation. Furthermore, arthralgias, Raynaud’s phenomenon, scleroderma and anti-U1-RNP positivity confirmed underlying MCTD. This is the first reported case of DIA in an MCTD patient. The slim chance of this co-occurrence and the atypical presentation raise the tantalising question of whether an interaction exists.
(BELG J HEMATOL 2024;15(6):246-8)
Read moreBJH - 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, 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 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 MD, 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)
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