Articles

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS syndrome) with multiple thromboembolism events: A Belgian case report

BJH - 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

SUMMARY

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)

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Diagnostic testing in myeloid malignancies by next-generation sequencing: recommendations from the Commission Personalised Medicine

BJH - 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

SUMMARY

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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P41 A 54-year-old woman with a myeloid neoplasm associated with eosinophilia and t(5;12) (q33;p13)/PDGRFB rearrangement: case report and mini-review of the literature

BJH - volume 8, issue Abstract Book BHS, february 2017

Q. Delefortrie , F. Lambert MD, G. Bulliard , M. Jurdan , S. Toffoli , D. Sartenaer , S. De Prophetis , D. Pranger MD, A. Kornreich MD, P. Mineur MD

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P4.07 Identification of a TPM3-PDGFRB fusion transcript and its chromosomal breakpoints by RNA-Seq in a case of Chronic Eosinophilic Leukemia

BJH - volume 7, issue Abstract Book BHS, january 2016

B. Koopmansch , M. Lopez y Cadenas , B. Hennuy , F. Lambert MD

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P4.08 Two cases of atypical CALR mutations in MPN patients

BJH - volume 7, issue Abstract Book BHS, january 2016

C. Sagot , H. Charlier , B. Koopmansch , F. Lambert MD

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P1.08 Multiparameter flow cytometric analysis of composite lymphoma: case report of a mantle cell lymphoma associated with a B-cell chronic lymphocytic leukemia and an aberrant T cell subset

BJH - volume 6, issue Abstract Book BHS, january 2015

J. Foguenne , M. Simul , R. Keutgens , F. Tassin , C. Bonnet MD, PhD, Y. Beguin MD, PhD, M. Jamar , F. Lambert MD, A. Gothot MD, PhD

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O.7 NOTCH1 c.7544–7545 delCt mutation identifies a subgroup of lymphocytic leukemia patients with poor outcome

BJH - volume 5, issue Abstract Book BHS, january 2014

S. Franke , C. Herens , M. Jamar , N. Mongiovi , B. De Prijck MD, F. Lambert MD

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