HEMATOCASE

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

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)

Plasma cell leukaemia with an indolent clinical presentation

SUMMARY

Plasma cell leukaemia (PCL) is a rare and aggressive plasma cell malignancy and is generally considered to be the final stage of multiple myeloma (MM). Although treatment modalities for MM have significantly evolved in the past decades, PCL unfortunately still retains an overall dismal prognosis, with most patients presenting with a highly symptomatic and aggressive disease course. We present a case of a transplant-ineligible patient diagnosed with a primary PCL who had an indolent presentation and achieved a durable complete remission after treatment via bortezomib-lenalidomide-dexamethasone (VRD). The present case illustrates the clinical heterogeneity of plasma cell disorders, and highlights the necessity of careful cytomorphological and flow cytometric analysis of aberrant lymphoid cells, even in the absence of stigmata of MM.

(BELG J HEMATOL 2022;13(7):277–80)

Yellow nail syndrome associated with acute myeloid leukaemia

SUMMARY

Yellow Nail Syndrome (YNS) is a rare entity characterised by the triad of nail discolouration, lung manifestations/sinusitis and lymphoedema. With ongoing debate, the exact aetiological mechanisms of YNS remain unknown. YNS is associated with various conditions such as malignancies, autoimmune and immuno-deficiency diseases. Some authors consider YNS as a paraneoplastic phenomenon due to its association with malignancies. Here we report the first patient presenting with the typical triad of YNS and a consecutive diagnosis of acute myeloid leukaemia with recurrent genetic abnormalities (KMT2A-PTD). Nail symptoms showed partial recovery after initiation of chemotherapy. Currently, the patient is off therapy and remains in first complete remission. More research to identify the exact pathophysiological mechanism and clinical significance of YNS is needed.

(BELG J HEMATOL 2022;13(6):249–52)

Myeloid lineage switching as escape mechanism to chimeric antigen receptor T-cell therapy in precursor B-ALL with ZNF384-TCF3 fusion: A case report

SUMMARY

Acute leukaemia with ZNF384-TCF3 fusion is considered high risk in contemporary frontline treatment protocols and will be treated by Hematopoietic Stem Cell Transplantation (HSCT) or Chimeric Antigen Receptor T-cell (CART) treatment in first complete remission. Although current cytogenetic and molecular work-up of newly diagnosed paediatric acute lymphoblastic leukaemia (ALL) includes the identification of the TCF3-ZNF384 fusion, this case underscores the importance of including this information in the choice of bridging therapy and the timing of CART treatment, as the high cytokine levels during high grade Cytokine Release Syndrome (CRS) might drive ALL cells to lineage switching.

(BELG J HEMATOL 2022;13(3):128–32)

Leishmaniasis: A potential lymphoma Mimicker

SUMMARY

In Belgium, a 53-year old Caucasian man presented at the haematology consultations with weight loss and night sweats in the last six weeks. Apart from a cholecystectomy and appendectomy, he had no medical history. He had no pets; his last journey abroad was to Spain eight months ago. On physical examination, splenomegaly was noted. Blood testing revealed a microcytic anaemia (Hb 9.3g/dl), leukopenia (2.63x10E9/L) with normal formula, normal liver testing and crp of 47.9g/dl. Serologic testing for HIV, CMV, HepB, HepC, and Toxoplasma was negative. Trephine biopsy was normal. PET/CT scan demonstrated splenomegaly with high FDG-avidity. Splenectomy was performed. Small granules (amastygotes) were seen by the pathologist suggestive for Leishmaniasis. Serologic testing and PCR confirmed the diagnosis. He was subsequently treated with liposomal amphotericin B. Our patient is now in optimal condition. Earlier serologic testing for this rare tropical disease in a non-endemic region could have prevented splenectomy.

(BELG J HEMATOL 2022;13(2):92–4)

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)