Update on Challenges in Diagnosis and Treatment of Myeloid Neoplasms with Systemic Mastocytosis

Blueprint Medicines-sponsored symposium session from the European Hematology Association 2023 Hybrid Congress (EHA2023)

Concurrent systemic mastocytosis (SM) may often be missed in patients with myeloid neoplasms, such as chronic myelomonocytic leukaemia, myelodysplastic syndrome/myeloproliferative neoplasm, myelodysplastic syndrome, and acute myeloid leukaemia, leading to delayed diagnosis and treatment.^1-3

At the European Hematology Association 2023 Hybrid Congress (EHA2023), Andreas Reiter, University Hospital Mannheim (UMM), Germany, and Heidelberg University, Germany; Julien Rossignol, CEREMAST, Hôpital Necker-Enfants Malades, Paris, France; Eric Solary, Gustave Roussy Cancer Center, Villejuif, France, and Paris-Saclay University, France; and Deepti Radia, Guy’s & St Thomas’ Hospitals NHS Foundation Trust, London, UK, highlighted the myeloid neoplasms that can occur in association with SM, discussed the diagnostic challenges, and considered how to overcome difficult treatment decisions for patients with two simultaneous hematologic diseases.

This presentation was originally presented as part of the Blueprint Medicines-sponsored symposium at the 2023 European Hematology Association (EHA2023) Hybrid Congress in Frankfurt, Germany, on 8^th June. This content is intended for healthcare professionals in Europe, and has been made available for informational and educational purposes only.

The oral views in this video are the speakers’ own and do not necessarily reflect those of Blueprint Medicines.

Which myeloid neoplasms occur in patients with SM-AHN: How can we optimise diagnosis and subtyping?

Rossignol describes the classification of SM with a focus on SM with an associated haematologic neoplasm (AHN). Rossignol highlights the predominance of myeloid neoplasms in the AHN component and their epidemiology, and discusses how to improve the diagnosis of SM-AHN.

Treatment options for the myeloid AHN component of SM-AHN: A clinical update

Solary outlines the classification of the myeloid neoplasms associated with SM and the currently available treatment options for these myeloid neoplasms, before looking ahead to the development of potential new therapies.

Treatment options for the SM component of SM-AHN: A clinical update

Reiter discusses the current treatment options for the SM component of SM with an associated haematologic neoplasm, and highlights new treatment options for SM, including the latest efficacy and safety data from clinical trials.

Challenges in treatment decision-making for SM-AHN: Which component should we treat first?

Radia sets the scene for two case studies by exploring the complexity of SM-AHN, and sharing insights on risk-stratification-based treatment decision-making for patients with SM-AHN.

Case Study 1: SM with high-risk myeloid neoplasm

Radia shares the key learnings from a case of a patient with SM-AHN, where a high-risk myeloid neoplasm required prioritising treatment of the associated hematologic component.

Case Study 2: SM with low-risk myeloid neoplasm

Reiter shares the key learnings from a case of a patient with SM-AHN, where the high-risk SM required prioritising treatment of the SM component.

1. Schwaab J et al. Importance of adequate diagnostic workup for correct diagnosis of advanced systemic mastocytosis. J Allergy Clin Immunol Pract. 2020;8(9):3121-7.e1.
2. Craig JW et al. Detection of the KIT^D816V mutation in myelodysplastic and/or myeloproliferative neoplasms and acute myeloid leukemia with myelodysplasia-related changes predicts concurrent systemic mastocytosis. Mod Pathol. 2020;33(6):1135-45.
3. Hunter A et al. Subclonal KIT D816V mutations are prevalent in chronic myelomonocytic leukemia and correlate with distinct phenotypic features. Blood. 2022;140(Suppl 1):9824-7.