HEMATOCASE

Advanced systemic mastocytosis: An uncommon cause of chronic diarrhoea and weight loss

SUMMARY

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)

Primary gastric plasmacytoma: Case report of a rare plasma cell neoplasm

SUMMARY

A 46-year-old woman presented with epigastric pain and weight loss for over a year. An upper endoscopy was performed and showed a polypoid lesion in the antropyloric region. Immuno-pathological report revealed a proliferation of plasma cell nature. The whole work-up including complete blood test, bone marrow biopsy and ¹⁸FDG-PET-CT did not detect extra gastric lesion of multiple myeloma. The diagnosis of extramedullary plasmacytoma of the stomach was established. Radiotherapy (44 Gy) with a curative intent was administered but the control biopsy showed residual disease. Endoscopic submucosal dissection was then performed with R0 resection (negative margins) leading to complete remission.

(BELG J HEMATOL 2021;12(8):349–52)

Clinical case: High grade “triple hit” Lymphoma

SUMMARY

We report the case of a 64-year-old patient, known for follicular lymphoma, admitted with facial paralysis accompanied by acute cervicobrachialgia. A lumbar puncture revealed the presence of centroblastic lymphoma cells whose clonal nature was confirmed by immunophenotyping. The histological examination of a lymph node biopsy was consistent with Burkitt-like high-grade lymphoma. Cytogenetic analysis showed the concomitant presence of a rearrangement of MYC as well as of BCL2 and BCL6. A final diagnosis of “triple-hit” high-grade B cell lymphoma (HGBL) was thus made. This entity belongs to the HGBL category of the WHO 2016 classification and shares characteristics with diffuse large B-cell lymphoma and Burkitt lymphoma. The diagnosis of this entity can be complex, in particular in view of a significant morphological variability. The cytogenetic work-up is thus essential for the differential diagnosis.

(BELG J HEMATOL 2021;12(7):318–22)

Recurrent deep venous thrombo-embolism in an obese anticoagulated patient

SUMMARY

Deep venous thrombosis (DVT) is a medical emergency requiring immediate anticoagulant treatment to prevent further clot formation and pulmonary thrombo-embolism. We present here the case of a patient affected by class I obesity who suffered from recurrent DVT despite anticoagulation with rivaroxaban.¹ After a switch to VKA, it appeared that the patient also presented resistance to vitamin K antagonists (VKA). Through this case, we would like to highlight the factors that must be taken into account when initiating and monitoring an anticoagulation therapy, including obesity and VKA resistance.

(BELG J HEMATOL 2021;12(7):323–6)

EBV-induced double hit transformation of splenic (marginal zone) lymphoma, in a patient with a chronic Hepatitis B virus hepatitis

SUMMARY

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)

Hepatosplenic Candidiasis (Chronic Disseminated Candidiasis) in a patient with acute myeloid leukaemia: A case report

SUMMARY

This case report describes the diagnosis and treatment of hepatosplenic candidasis (or chronic disseminated candidiasis) in a young man with acute myeloid leukaemia (AML). The disease is characterized by persisting fever during treatment with broad-spectrum antibiotics after neutropenia. Sometimes the preceded candidemia is detected. The diagnosis can be made, using radiographic imaging (CT scan/PET scan), supported by histologic examination of a (liver) biopsy. Cultures can be negative. The β-D-glucan test and PCR assays might be of supportive value. Long-term antifungal medication (several months) is necessary. In some cases, fever only disappears after the start of corticosteroids.

(BELG J HEMATOL 2022;13(8):321–4)

Coombs-negative haemolysis in hepatosplenic T-cell lymphoma

SUMMARY

We present to you a Coombs-negative haemolytic anaemia in a patient with a hepatosplenic T-cell lymphoma (HSTL). The underlying mechanism was considered to be due to the massive hypersplenism or a Coombs negative immune-mediated direct cytotoxic mechanism, which has been previously described in patients with HSTL. Our patient was treated with cytostatic therapy consisting of dexamethasone, cytarabin and cisplatin (DHAP), followed by allogenic stem cell transplantation, after which complete remission was achieved.

(BELG J HEMATOL 2022;13(8):316–20)