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 13, issue 2, march 2022
K. Rack PhD, L. Michaux MD, PhD
Genetic analysis of acute myeloid leukaemia (AML) has identified multiple genetic markers of prognostic significance that can be used for risk stratification of patients at diagnosis. Of these, mutations of the FMS-like tyrosine kinase 3 receptor gene (FLT3) are one of the most important. FLT3 mutations are found in 30% of AML cases overall. They are present in different AML entities and across the cytogenetic subgroups, the most common being in AML patients with a normal karyotype. They are generally considered poor prognostic indicators although the prognostic impact is influenced by the type of FLT3 mutation as well as the co-existence of other mutations and cytogenetic background. FLT3 encodes a tyrosine kinase receptor that can be targeted by tyrosine kinase inhibitors and their introduction into treatment protocols has significantly improved the prognosis of these patients with a prior dismal outcome. Given the poor prognosis, and availability of targeted treatment, FLT3 testing is recommended for all new AML cases at diagnosis with the results available within 72 hours for determination of treatment strategies. This short turnaround time (TAT) is challenging for diagnostic laboratories and affects the method of testing. Herein, we review the current recommendations for FLT3 testing in AML, discuss the different available methods for FLT3 mutation testing, and highlight considerations for AML clinicians when faced with AML patients at diagnosis or at a relapsing stage.
(BELG J HEMATOL 2022;13(2):59–64)
Read moreBJH - volume 13, issue 2, march 2022
B. Sciot MD, T. Devos MD, PhD, T. Tousseyn MD, PhD, N. Boeckx MD, PhD, L. Michaux MD, PhD, P. Vandenberghe MD, PhD
Introduction: Advanced systemic mastocytosis is a rare myeloproliferative disorder of mast cells, damaging the function of various organs and tissues. The diagnosis can be challenging due to its protean manifestations and rareness. Treatment options have improved over the last years. Currently, avapritinib, a novel tyrosine kinase inhibitor with activity against p.D816V mutated KIT, is under investigation.
Case: We report a case of a 64-year old man with chronic diarrhoea, fatigue, weight loss and ascites with hepatomegaly, developing an upper gastro-intestinal bleeding with multiple duodenal ulcers. Diagnostic work-up revealed hepatosplenomegaly and portal hypertension, a vertebral compression fracture and multiple 18F-FDG avid supra- and infradiaphragmatic lymph nodes and bone marrow. Based on the 2016 WHO criteria of systemic mastocytosis, and a concomitant chronic myelomonocytic leukaemia, the diagnosis of an aggressive systemic mastocytosis with an associated haematological neoplasm was made. The patient was consecutively treated with midostaurin, cladribine and avapritinib, the latter inducing a complete biochemical and molecular response.
Conclusion: This case illustrates the challenging clinical presentation of systemic mastocytosis. A deep response to avapritinib was observed despite prior use of midostaurin and cladribine, underlining its promise in advanced systemic mastocytosis.
(BELG J HEMATOL 2022;13(2):84–91)
Read moreBJH - volume 12, issue 6, october 2021
L. Jannis MD, L. Waumans MD, L. Michaux MD, PhD, C. Deroose MD, PhD, D. Dierickx MD, PhD, T. Tousseyn MD, PhD
We report a case of an EBV-induced large-cell transformation of a splenic marginal zone lymphoma in an 81-year-old female with a simultaneous finding of hepatitis B viral infection.
(BELG J HEMATOL 2021;12(6):275-9)
Read moreBJH - volume 11, issue 8, december 2020
M.C. Vekemans MD, C. Doyen MD, K.L. Wu MD, PhD, A. Kentos MD, PhD, P. Mineur MD, L. Michaux MD, PhD, J. Caers MD, PhD, N. Meuleman MD, PhD, M. Delforge MD, PhD, On behalf of the BHS Myeloma Subgroup
With the introduction of immunomodulatory drugs, proteasome inhibitors and anti-CD38 monoclonal anti-bodies, major improvements have been achieved in the treatment and outcome of multiple myeloma (MM). Different treatment combinations are now in use and other therapies are being developed. This rapidly changing therapeutic landscape urges for an update on practical guidelines. Based on an extensive review of the recent literature, we propose recommendations on myeloma management, to be used by haematologists as a reference for daily practice.
(BELG J HEMATOL 2020;11(8):357-75)
Read moreBJH - volume 11, issue 7, november 2020
M.C. Vekemans MD, C. Doyen MD, K.L. Wu MD, PhD, A. Kentos MD, PhD, P. Mineur MD, L. Michaux MD, PhD, J. Caers MD, PhD, N. Meuleman MD, PhD, M. Delforge MD, PhD, On behalf of the BHS Myeloma Subgroup
With the introduction of immunomodulatory drugs, proteasome inhibitors and anti-CD38 monoclonal antibodies, major improvements have been achieved in the treatment and outcome of multiple myeloma (MM). Different treatment combinations are now in use and other therapies are being developed. This rapidly changing therapeutic landscape urges for an update on practical guidelines. Based on an extensive review of the recent literature, we propose recommendations on myeloma management, to be used by haematologists as a reference for daily practice.
(BELG J HEMATOL 2020;11(7):286-304)
Read moreBJH - volume 10, issue 6, october 2019
E. Van Valckenborgh PhD, M. Bakkus PhD, E. Boone PhD, A. Camboni MD, PhD, J-P. Defour PhD, B. Denys MD, H. Devos MD, L. Dewispelaere MD, G. Froyen PhD, A. Hébrant PhD, P. Heimann MD, PhD, P. Hermans MD, PhD, E. Heylen PhD, K. Jacobs PhD, F. Lambert MD, M. Le Mercier Apr, PhD, E. Lierman PhD, H. Louagie MD, PhD, B. Maes MD, PhD, M-B. Maes PhD, G. Martens MD, PhD, L. Michaux MD, PhD, F. Nollet PhD, MSc, H.A. Poirel MD, PhD, G. Raicevic PhD, P. Saussoy MD, PhD, T. Tousseyn MD, PhD, M. Van Den Bulcke PhD, P. Vandenberghe MD, PhD, K. Vandepoele PhD, P. Vannuffel PhD, T. Venken PhD, K. Vermeulen PhD
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)
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