HEMATOCASE

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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Heterophilic antibodies as the cause of a false positive malaria rapid diagnostic test: A case report

BJH - volume 14, issue 8, december 2023

O. Mortelé PhD, K. Ver Elst MD, S. Vermeiren MD, S. Weekx PhD

SUMMARY

A 50-year-old male patient admitted to the hospital with renal insufficiency, anaemia, monoclonal protein (IgG kappa) and uremic encephalopathy was screened for malaria due to increasing serum CRP-levels and neurological decline combined with an indistinct travel history. The malaria rapid diagnostic test (RDT) revealed a positive result; however, no malaria parasites were detected by the pathologist through microscopic evaluation of the thick and thin blood smear. Additional tests were performed to investigate potential causes of the false positive malaria RDT such as the presence of heterophilic antibodies, the monoclonal protein and rheumatoid factor. This case presented a false positive malaria RDT result due to a confirmed interference of heterophilic antibodies. The interference could be omitted using a heterophilic antibody-blocking agent.

(BELG J HEMATOL 2023;14(8):343–6)

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Straight to the heart

BJH - volume 14, issue 7, november 2023

H. Lismont MD, T. Tousseyn MD, PhD, D. Dierickx MD, PhD

SUMMARY

We report the case of a 56-year-old patient with medical history of acute myeloid leukaemia (AML), presenting with shortness of breath and lower extremity oedema. Transthoracic echocardiogram revealed an important amount of pericardial fluid and an infiltrating mass located at the left ventricular wall. A pericardial window with drainage was performed and a biopsy of the pericardium was taken. The pathological report was compatible with an extramedullary manifestation of AML. Further work-up with complete blood test and bone marrow biopsy confirmed a systemic AML relapse. The patient was treated with re-induction chemotherapy and cardiac radiotherapy followed by a second allogeneic stem cell transplantation, leading to a complete remission.

(BELG J HEMATOL 2023;14(7):304–7)

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Rapidly evolving mast cell leukaemia three years after an allogeneic stem cell transplant for myelodysplasia: A case report

BJH - volume 14, issue 6, october 2023

M. Beltjens MD, R. Lattenist MD, M. Rousseaux MD, P. Saussoy MD, PhD, X. Poiré MD, PhD, N. Straetmans MD, PhD

SUMMARY

We report a patient developing mast cell leukaemia with subsequent multi-organ failure, three years after allogeneic haematopoietic stem cell transplantation for myelodysplastic syndrome. Mast cell leukaemia is a very rare condition, accounting for <1% of all mastocytosis. In this article, we will discuss the atypical disease progression and treatment response, and diagnostic challenges.

(BELG J HEMATOL 2023;14(6):255–8)

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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

SUMMARY

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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Systemic bevacizumab to treat refractory bleeding in hereditary haemorrhagic telangiectasia: A single centre case series

BJH - volume 14, issue 3, may 2023

J. Nelissen MD, K.L. Wu MD, PhD, N. Granacher MD, D. Breems MD, PhD

SUMMARY

Hereditary haemorrhagic telangiectasia (HHT) is a rare genetic disorder that causes mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs). Recurrent iron deficiency and anaemia are significant complications often treated by haematologists. Bevacizumab, an anti-VEGF monoclonal antibody, has been implemented to target elevated levels of VEGF as seen in HHT patients. We present a single centre case series of three patients with recurrent bleeding issues due to HHT who have been treated with bevacizumab. All three patients were benefited in terms of mean haemoglobin, need for iron infusions and number of haemostatic interventions. Based on our own case series and existing literature, systemic bevacizumab appears to be effective in the treatment of bleeding-related conditions. However, the optimal dose and treatment strategy has yet to be determined. Randomised controlled studies are needed to further support the indication of bevacizumab in HHT.

(BELG J HEMATOL 2023;14(3):135–8)

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Leptomeningeal myelomatosis as a rare presentation of multiple myeloma: A case report

BJH - volume 14, issue 2, march 2023

R.M. Bouttelgier MD, M. Verhé MD, J. Van Droogenbroeck MD, L.J. Vanopdenbosch MD, PhD

SUMMARY

In this article, we present a case of a 53-year-old female multiple myeloma patient who was diagnosed with leptomeningeal myelomatosis after two years of treatment. This extramedullary presentation is extremely rare and occurs in less than 1% of multiple myeloma patients. Leptomeningeal myelomatosis most commonly manifests with headache, confusion, cerebral nerve palsy and radiculopathy. When leptomeningeal myelomatosis is suspected, the first step in diagnosis is contrast-enhanced magnetic resonance imaging (MRI). However, cerebrospinal fluid (CSF) analysis is imperative for definite diagnosis. Leptomeningeal myelomatosis is commonly associated with high-risk genetic features including deletion of 17p (TP53), absence of CD56, IgA or IgD paraprotein and lambda subtype. Leptomeningeal myelomatosis has a poor prognosis with an expected survival in terms of months after diagnosis. There is no standard treatment. However, there is some evidence for promising results of therapy with marizomib and pomalidomide.

(BELG J HEMATOL 2023;14(2):73–6)

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