Case series of two patients with KIT D816V positive systemic mastocytosis with associated chronic myelomonocytic leukaemia

BJH - volume 14, issue 4, june 2023

M. Cuykx PhD, B. Hodossy MD, I. Vrelust MD, M. Develter MD, B. Maes MD, PhD, J. Boes , J. Willemse PhD


In this case report, we describe two patients with systemic mastocytosis with an associated haematological neoplasm. The KIT c.2447A>T;p. (Asp816Val) (D816V) mutation, the original driver mutation of mastocytosis, can, in combination with additional genetic abnormalities, drive the clonal evolution towards an additional myelodysplastic or myeloproliferative neoplasia. When patients present with a dominant phenotype of the latter neoplasia, which is often the cause in chronic myelomonocytic leukaemia (CMML) or acute myeloid leukaemia (AML), the original mastocytosis could be overlooked, missing therapeutic opportunities.

(BELG J HEMATOL 2023;14(4):178–82)

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Diffuse large B-cell lymphoma presenting as a spontaneous rupture of the spleen

BJH - volume 8, issue 6, october 2017

G. Van den Bosch PhD, M. Ramael MD, PhD, P. Storms MD, M. Develter MD, J. Willemse PhD, B. Maes MD, PhD, G. Bries MD, PhD


In this hematocase, a patient is presented with a spontaneous rupture of the spleen due to massive splenomegaly caused by a previously undiagnosed diffuse large B-cell lymphoma. Diagnosis and differentiation of this non-Hodgkin lymphoma is discussed with attention for the prognostic implications of the results. The association between spontaneous rupture of the spleen and haematological malignancies is further explored by means of earlier described cases. A take home message is given regarding this rare initial presentation of a lymphoma since immediate surgical intervention is imperative in these cases.

(BELG J HEMATOL 2017;8(6):239–43)

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PP33 Targeted next-generation sequencing using a pan-myeloid panel in myelodysplastic neoplasms: implementation in clinical diagnostics

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

G. Froyen PhD, J. Willemse PhD, A. Broekmans , R. Smets , B. Cruys , N. Put MD, PhD, V. Madoe , M. Janssen , O. Soepenberg , G. Bries MD, PhD, B. Maes MD, PhD

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