BJH - volume 9, issue 3, june 2018
Y. Serroukh MD, PhD, H. Claerhout MD, A. Janssens MD, PhD, T. Tousseyn MD, PhD, N. Boeckx MD, PhD, J. Maertens MD, PhD, T. Devos MD, PhD
Aplastic anaemia is a rare condition characterised by pancytopenia and bone marrow hypocellularity and caused by the immune-mediated destruction of the haematopoietic precursors. The early complications are related to cytopaenias with infections being the major cause of morbi-mortality. The main long-term issue is clonal evolution to myelodysplastic syndrome or acute leukaemia. The diagnosis relies on exclusion of other causes of pancytopenia and characteristic pathologic findings. Severity is stratified according to peripheral blood counts. Nowadays, the survival of treated patients reaches 80–90%. The treatment of the severe form of aplastic anaemia consists on haematopoietic stem cell transplantation in eligible patients and immunosuppressive therapy in non-transplant candidates. Supportive therapy is an option in frail and/or elderly patients. Here, we define and briefly review the pathogenesis of aplastic anaemia. We propose a diagnostic and therapeutic strategy based on existing literature and experts’ recommendations. We finally report three cases illustrating particular clinical associations with pregnancy, hepatitis and paroxysmal nocturnal haemoglobinuria.
(BELG J HEMATOL 2018;9(3):76–85)
Read moreBJH - volume 9, issue 2, march 2018
B. De Moerloose MD, PhD, E. Nauwynck MD, K. Arts MD, L. Willems MD, PhD, V. Labarque MD, PhD, T. Lammens PhD, A. Uyttebroeck MD, PhD
Infant leukaemia is a rare disease but the 3rd most frequent malignancy in this age group. Both acute lymphoblastic leukaemia and acute myeloid leukaemia in the first year of life have particular clinical and biological characteristics such as B-cell phenotype with co-expression of myeloid markers in acute lymphoblastic leukaemia, FAB M5 or M7 in acute myeloid leukaemia, the presence of extramedullary symptoms and a high frequency of KMT2A rearrangements. Survival rates for infant acute leukaemia are worse than for older children. In this study, the characteristics and outcome of 50 infants with acute lymphoblastic leukaemia and acute myeloid leukaemia treated at the University Hospitals of Ghent and Leuven between 1989 and 2015 were studied and correlated with literature data. With event-free survival and overall survival rates of 44% and 52% for the entire cohort, the outcome of these patients was comparable to those in published clinical trials. In general, the event-free survival and overall survival was superior in acute myeloid leukaemia compared to acute lymphoblastic leukaemia infants and not influenced by age (< or ≥6 months), white blood cell count at diagnosis or presence of a KMT2A rearrangement. For future trials in infant leukaemia, the high number of early deaths, toxic deaths and relapses remain the most challenging problems.
(BELG J HEMATOL 2018;9(2):57–63.)
Read moreBJH - volume 9, issue 2, march 2018
S. Meers MD, PhD
The field of myelodysplastic syndromes has entered the molecular era. New diagnostic tools such as next-generation sequencing are rapidly entering clinical practice and will change the way we diagnose and manage patients with a myelodysplastic syndrome, especially patients considered lower risk by standard diagnostic tools. The treatment of lower risk patients has not changed much since the publication of the BHS recommendations in 2013. However, important trials in lower risk patients have recently been published and will be reviewed here. Finally, the recommendations from an international expert panel for allogeneic transplantation have been published. The key points of this paper will also be discussed as well as results of recently published trials.
(BELG J HEMATOL 2018;9(2):48–56)
Read moreBJH - volume 8, issue 7, december 2017
K. Saevels MD, Z.N. Berneman MD, PhD, S. Anguille MD, PhD
Paroxysmal nocturnal haemoglobinuria is a rare, acquired haematological disease that manifests with haemolytic anaemia, thrombosis and impaired bone marrow function. The absence of two glycosylphosphatidylinositol-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for haemolysis and other paroxysmal nocturnal haemoglobinuria manifestations. Patients may present with a variety of clinical manifestations, such as anaemia, thrombosis, kidney disease, smooth muscle dystonias, abdominal pain, dyspnoea, and extreme fatigue. Delayed recognition of this condition is common due to the variable clinical presentation. This delay in diagnosis confers an increased risk of mortality and morbidity. Therefore, the purpose of this review is to raise awareness about this potentially life-threatening disease among haematologists and to provide a guide to diagnosis and treatment.
(BELG J HEMATOL 2017;8(7):259–64)
Read moreBJH - volume 8, issue 7, december 2017
K.P.M. van Galen MD, MSc, E.P. Mauser-Bunschoten MD, PhD
Von Willebrand disease is the most common congenital bleeding disorder characterised by mucocutaneous bleeding. However, joint bleeds also occur in a significant proportion of patients with severe Von Willebrand disease. Until recently, joint bleeding did not get much attention in clinical research on Von Willebrand disease, despite the fact that recurrent joint bleeds may lead to arthropathy. Arthropathy in Von Willebrand disease has a negative impact on joint function, participation and quality-of-life. Risk factors are a low FVIII level and a history of more than five joint bleeds. Arthropathy in Von Willebrand disease can be measured using the Haemophilia Joint Health Score and the joint X-ray Pettersson score. The value of magnetic resonance imaging or ultrasound to detect early arthropathy in Von Willebrand disease remains to be determined. The Haemophilia Activities List questionnaire is feasible to quantify functional abilities in Von Willebrand disease. The most important measure to prevent arthropathy is to prevent joint bleeding. Clotting factor prophylaxis has proven very effective to do so. Since there is no general consensus to guide the use of prophylaxis in Von Willebrand disease, the decision on when and how to start prophylaxis is based on individual patient’s assessments by a haemophilia treatment centre. Future studies in Von Willebrand disease arthropathy could address the optimal timing and schedule of prophylaxis, optimal treatment of an acute joint bleed to prevent arthropathy, effectiveness of rehabilitation programs, orthopaedic surgery and the clinical use of measurement instruments. Prospective joint assessments and registration of joint bleeds in future population studies on severe Von Willebrand disease will be a good starting point.
(BELG J HEMATOL 2017;8(7):253–8)
Read moreBJH - volume 8, issue 6, october 2017
R. Willemze MD
Primary cutaneous B-cell lymphomas are a heterogeneous group of B-cell lymphomas that present in the skin without evidence of extracutaneous disease at the time of diagnosis. In recent classifications three main types of cutaneous B-cell lymphomas are recognised: primary cutaneous marginal zone lymphoma, primary cutaneous follicle center lymphoma and primary cutaneous large B-cell lymphoma, leg type. In this review, the main characteristics and practice guidelines for the management and treatment of these three types of cutaneous B-cell lymphomas are presented. Other types of B-cell lymphomas that can present with skin-limited disease, such as intravascular large B-cell lymphoma, B-lymphoblastic lymphoma and immunodeficiency-associated B-cell proliferations will shortly be discussed.
(BELG J HEMATOL 2017;8(6):213–21)
Read moreBJH - volume 8, issue 5, september 2017
F. Ghazavi PhD, T. Lammens PhD, P. Van Vlierberghe PhD, B. De Moerloose MD, PhD
Acute lymphoblastic leukaemia, a clinically and biologically heterogeneous disease, represents the most common malignant disease in childhood. Approximately 20–25% of B-cell precursor acute lymphoblastic leukaemia in childhood carry the cryptic chromosomal translocation t(12;21)(p13;q22). This translocation combines two transcription factors and essential regulators of normal haematopoiesis, ETV6 and RUNX1, into the fusion oncogene ETV6/RUNX1 (formerly known as TEL/AML1). Recent studies in various animal models have strengthened the view that ETV6/RUNX1-positive cells give rise to pre-leukemic clones with a differentiation block in the pro/pre-B stage of B-cell development that, after acquisition of additional mutations, may transform into full malignancy. Despite the favourable prognostic parameters of this B-cell precursor acute lymphoblastic leukaemia subgroup, relapse and resistance to chemotherapeutics do occur and increased knowledge of the molecular mechanisms underlying ETV6/RUNX1-driven leukaemia is essential to develop novel therapeutic strategies to selectively target ETV6/RUNX1-positive leukaemia. In this manuscript, an overview of the most recent genetic insights in ETV6/RUNX1-positive B-cell precursor acute lymphoblastic leukaemia is given.
(BELG J HEMATOL 2017;8(5):179–84)
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