BJH - volume 15, issue 6, october 2024
K. Rack PhD, N. Van Roy PhD, P. Chiarappa PhD, J. Luciani PhD, C. Dressen PhD, S. Horion MSc, J. de Bie MD, PhD, G. Ameye MSc, J. Vanhevel PhD, L. Michaux MD, PhD, S. Beckers PhD, L. Rooms PhD, P. Heimann MD, PhD, T. Sticca PhD, M. Jamar MD, PhD, S. Toffoli PhD, MSc, C. Menten PhD, C. Lété PhD, S. Franke PhD, B. Dewaele PhD
Genomic abnormalities play an increasingly important role in prognostication and classification of haematological malignancies (HM), as evidenced by their continual integration into updated classification and risk assessment models. Optical Genome Mapping (OGM) is a relatively new high-resolution technology that offers novel opportunities to assess chromosome abnormalities, increasing the detection yield of clinically relevant abnormalities and allowing rationalisation of diagnostic pathways by abrogating the need for multiple complementary tests. Furthermore, it could streamline laboratory’s technical pipelines, avoiding the need for multiple disease specific workflows. Given these findings, OGM is currently being implemented into the diagnostic workflow, as a first line test, by numerous laboratories worldwide and is being validated with view to implementation in many more, including Belgium. Here we propose recommendations for implementation of OGM testing in the routine diagnostic workup of HM.
(BELG J HEMATOL 2024;15(6):233–7)
Read moreBJH - volume 11, issue 6, october 2020
L. De Smaele , M. Hofmans MD, PhD, T. Lammens PhD, A. Van Damme MD, PhD, J. van der Werff ten Bosch MD, PhD, A. Ferster MD, PhD, J. Verlooy MD, C. Chantrain , J. Philippé MD, PhD, N. Van Roy PhD, P. De Paepe MD, PhD, V. Labarque MD, PhD, B. De Moerloose MD, PhD
Childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukaemia (JMML) are very rare clonal stem cell disorders of early childhood. Paediatric MDS can be further subdivided in refractory cytopenia of childhood (RCC) and high grade MDS, in case of excess blasts. Given their rarity, little is known about the epidemiology of these diseases in Belgium. The aim of this study is to investigate the incidence, characteristics, treatment and prognosis of paediatric MDS and JMML in Belgium. Prospectively collected data of 56 Belgian patients with MDS and JMML were enrolled in the study, of which 41 (73%) with MDS, eleven with JMML (20%) and four (7%) with Noonan syndrome associated myeloproliferative disorder. The incidence rates of MDS and JMML in Belgium were 1.5 and 0.4 per million children per year respectively, with a median age of diagnosis of 9.3 years for RCC, 9.5 years for high grade MDS and 2.6 years for JMML. Monosomy 7 was the most common cytogenetic abnormality and could particularly be found in high grade MDS (33%) and JMML (45%). RCC treatment consisted of immunosuppressive therapy (IST) and haematopoietic stem cell transplantation (HSCT), but in high grade MDS and JMML only HSCT was a valid treatment option. Overall survival was significantly lower in high grade MDS (45.0%) compared to JMML (79.5%) and RCC (80.6%) (log-rank p-value = 0.038), whereas event-free survival (EFS) was comparably low in high grade MDS and JMML (46.7% and 58.4% respectively) due to a high cumulative incidence of relapse (CIR) of 33% and 29.9%, respectively. Outcome was best for RCC patients with highest EFS (76.3%; 57.1% if IST failure was considered as event) and lowest CIR (9.3%). This study highlights that paediatric MDS and JMML are very rare disorders with associated morbidity and mortality, especially in high grade MDS and JMML. Considering the high relapse risk in high grade MDS and JMML, new therapeutic options are required.
(BELG J HEMATOL 2020;11(6):233-9)
Read moreBJH - 2018, issue Abstract Book BHS, february 2018
M. Hofmans MD, PhD, T. Lammens PhD, S. Bresolin , H. Cavé , C. Flotho , H. Hasle , H. Helsmoortel PhD, M. Van den Heuvel-Eibrink , C. Niemeyer , J. Stary , N. Van Roy PhD, P. Van Vlierberghe PhD, J. Philippé MD, PhD, B. De Moerloose MD, PhD
BJH - 2018, issue Abstract Book BHS, february 2018
M. Hofmans MD, PhD, dr. A. Delie MD, K. Vandepoele PhD, N. Van Roy PhD, J. Van der Meulen , J. Philippé MD, PhD, I. Moors MD
BJH - 2018, issue Abstract Book BHS, february 2018
dr. A. Delie MD, P. Vlummens MD, N. Van Roy PhD, F. Offner MD, PhD, T. Kerre MD, PhD
BJH - volume 8, issue 2, march 2017
A-S. De Koninck PharmD, C. Dhooge MD, PhD, B. Denys MD, K. Vandepoele PhD, N. Van Roy PhD, M. Hofmans MD, PhD, J. Philippé MD, PhD
We describe a case of a four-year-old boy diagnosed with an Early T-cell Precursor Lymphoblastic Leukaemia. This type of leukaemia is recognised as a high-risk subgroup characterised by very early arrest in T-cell differentiation. Early T-cell Precursor Lymphoblastic Leukaemia cases have characteristic gene expression profiles, increased genomic instability and a distinct immature immunophenotype (CD1a–, CD8–, CD5+dim and positivity for at least one marker of stem cell or myeloid lineage). This type of leukaemia is associated with poor prognosis and a poor response to intensive chemotherapy, though this finding is still debated. Our patient displayed an inferior response to induction therapy. The main purpose of this report is to make Belgian physicians aware of this entity and its controversial prognostic significance.
(BELG J HEMATOL 2017;8(2):75–9)
Read moreBJH - volume 8, issue Abstract Book BHS, february 2017
B. Denys MD, J. Van der Meulen , E. de Latter , S. Lefever , T. Rosseel , W. Steyaert , G. Vandercruyssen , I. Rottiers , D. Creytens , dr. J. Van Dorpe , F. Speleman PhD, B. Poppe , N. Van Roy PhD, K. de Leeneer , K. Claes BM, PhD, K. Vandepoele PhD
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