K. Vandepoele PhD

Germline predisposition in the context of acute myeloid leukaemia: A single-centre descriptive study of current practice and review of the literature

SUMMARY

The awareness of potential germline predisposition in patients with acute myeloid leukaemia (AML) has increased in the years since NGS testing with large gene panels became standard of care. Yet, it must be noted that still little is known regarding incidences in the Belgian population and specific guidelines for clinical practice are lacking. This narrative review attempts to provide an overview of the most common germline variants in the context of AML, optimal diagnostic approaches, and the impact on the patient and family. In a retrospective study of a cohort of 241 AML-patients, we describe the current situation at Ghent University Hospital. Using the available NGS panels, we identified twelve patients with germline pathogenic variants: 5.0% of the total cohort, 34.3% of the patients that were referred for germline testing. It must be realized that the NGS panels expanded during the study period, and probably will expand further in the future: the amount of germline pathogenic variants will likely be higher. This demonstrates the importance of awareness for underlying germline predisposition, and the implications for the patient, their family, as well as during donor search in case of allogenic stem cell transplantation.

(BELG J HEMATOL 2024;15(4):135–46)

P.14.2 KIT D816 mutation in myeloid neoplasms: look out for systemic mastocytosis associated hematologic neoplasms (SM-AHN)

Diagnostic testing in myeloid malignancies by next-generation sequencing: recommendations from the Commission Personalised Medicine

SUMMARY

Molecular diagnostics have an increasing impact on diagnosis, risk stratification and targeted treatment in haemato-oncology. In the framework of a pilot study for the implementation of next-generation sequencing in the Belgian healthcare system, the Commission of Personalised Medicine was founded to give professional and evidence-based advice on the molecular analysis in haemato-oncology. This paper describes its recommendations for NGS analysis in myeloid malignancies. In addition, the minimally required set of genes that must be analysed is defined and algorithms for molecular workflow in myeloid malignancies are proposed.

(BELG J HEMATOL 2019;10(6):241–9)

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

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)

PP34 The MLL partial tandem duplication (MLL-PTD) is correlated with WT1 overexpression in patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) and shows a similar expression profile during treatment