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EBMT 2025 | Diagnosing and treating systemic mastocytosis with an associated hematologic neoplasm
Deepti Radia, MBBS, BSc, MRCPI, FRCPath, MSc Med Ed, Guy’s and St Thomas’ NHS Foundation Trust, London, UK, comments on the diagnosis of systemic mastocytosis (SM) with an associated hematologic neoplasm (AHN). Dr Radia emphasizes the importance of accurately diagnosing the underlying hematologic neoplasm, which often involves a combination of bone marrow examination, a morphological examination, and a myeloid gene panel. This comprehensive diagnostic process is necessary to optimize subsequent treatment decisions. This interview took place at the 51st Annual Meeting of the EBMT in Florence, Italy.
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Transcript
70% of patients with advanced SM will have an SM component and AHN component. The most common AHN components are CMML followed by MDS, MPN/MDS overlap, MPN, and AML. The best way in terms of diagnosing it is getting that initial diagnostic criteria correct. And that means looking at the bone marrow with anyone that’s got systemic mastocytosis to see if you can find a silent AHN behind in the morphology...
70% of patients with advanced SM will have an SM component and AHN component. The most common AHN components are CMML followed by MDS, MPN/MDS overlap, MPN, and AML. The best way in terms of diagnosing it is getting that initial diagnostic criteria correct. And that means looking at the bone marrow with anyone that’s got systemic mastocytosis to see if you can find a silent AHN behind in the morphology. Always, always do an NGS or myeloid panel because if patients have a c-KIT mutation, and that should really be done on a sensitive PCR assay as the NGS doesn’t pick it up, and a myeloid gene panel, and you’re seeing myeloid mutations, nine times out of 10 or 10 times out of 10, there’s going to be an AHN. The AHN might be a low-level AHN, then you look for it, or it may be the AHN is hiding the SM. So the original diagnostics of your bone marrow, your morphology, your c-KIT, and your myeloid gene panel will help you make that decision. And then treatment will depend clinically on which you think is having the effect on that patient at that time.
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Disclosures
Blueprint Medicines/Cogent Biosciences.
