M. Hofmans MD

Recent advances in the genomic and epigenomic biology of juvenile myelomonocytic leukaemia

SUMMARY

Juvenile myelomonocytic leukaemia is a heterogeneous disease caused by constitutional activation of the Ras signal transduction pathway. The clinical course of the disease is variable and non-specific. In the majority of patients prompt hematopoietic stem cell transplantation is necessary for long-term survival, whereas in a minority the disease will resolve without treatment. In more than 90% of the patients, mutations in one or more of the following genes can be found (somatic NRAS, KRAS and PTPN11, germline NF1 and CBL). However, these canonical mutations are insufficient to explain the phenotypic heterogeneity of this disease. More recently, secondary mutations, non-coding RNA expression, and genomic DNA methylation have led to a better understanding of the pathobiology of the disease, and shown to play a role in the classification and prognostication of this rare disease. In addition, this novel information has been crucial for novel drug development and introduction of novel patient-tailored therapies, which are currently being tested in vitro or in vivo in clinical trials.
(BELG J HEMATOL 2020;11(2):49–55)

PP01 Exploring the long non-coding RNA landscape in Juvenile Myelomonocytic Leukemia

P09 A case of chronic eosinophilic leukemia with secondary transformation to acute myeloid leukemia

P10 Translocation (12;22) with TEL-MN1 (ETV6-MN1) fusion transcript: a recurrent, but rare genetic abnormality in acute myeloid leukaemia: case report and review of the literature

P30 Severe pancytopenia as presenting feature in newly diagnosed multiple myeloma (NDMM): a rare presentation

A case report of a paediatric Early T-cell Precursor Lymphoblastic Leukaemia

SUMMARY

We describe a case of a four-year-old boy diagnosed with an Early T-cell Precursor Lymphoblastic Leukaemia. This type of leukaemia is recognised as a high-risk subgroup characterised by very early arrest in T-cell differentiation. Early T-cell Precursor Lymphoblastic Leukaemia cases have characteristic gene expression profiles, increased genomic instability and a distinct immature immunophenotype (CD1a–, CD8–, CD5^+dim and positivity for at least one marker of stem cell or myeloid lineage). This type of leukaemia is associated with poor prognosis and a poor response to intensive chemotherapy, though this finding is still debated. Our patient displayed an inferior response to induction therapy. The main purpose of this report is to make Belgian physicians aware of this entity and its controversial prognostic significance.

(BELG J HEMATOL 2017;8(2):75–9)

P21 Bone marrow necrosis with E. coli marrow invasion in a patient with secondary diffuse large B-cell lymphoma : a rare cause of pancytopenia