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To confirm diagnosis of SM, a complete workup is recommended that includes a high-sensitivity KIT D816V assay, serum tryptase test and finally a bone marrow biopsy1
High-sensitivity KIT D816V testing
High-sensitivity PCR methods such as ddPCR (~0.01% sensitivity) are recommended for detecting KIT D816V in peripheral blood1,2
NGS assays have low sensitivity and are insufficient for reliably detecting KIT D816V1,2
In a study of ISM patients (N=39):3
28%
detection of KIT D816V with NGS
95%
detection of KIT D816V with ddPCR
Download the KIT testing pocket card
Bone marrow biopsy
Bone marrow is the most common site of extracutaneous accumulation of mast cells in patients with SM4
The presence of multifocal dense infiltrates of mast cells (≥15 mast cells in aggregates) in bone marrow or another extracutaneous organ is the WHO major criterion for SM5
Download the bone marrow biopsy pocket card
ddPCR=droplet digital polymerase chain reaction; NGS=next-generation sequencing; PCR=polymerase chain reaction.
A bone marrow examination is recommended for patients with clear signs of SM, including a KIT-activating mutation, splenomegaly, unexplained osteoporosis and/or blood cell count abnormalities1
Key steps in diagnosing SM
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Review the summary pathway for investigating an SM diagnosis
References V
Valent P, et al. J Allergy Clin Immunol Pract. 2022;10(8):1999–2012.e6.
Hoermann G, et al. J Allergy Clin Immunol Pract. 2022;10(8):1953–1963.
George TI, et al. Blood. 2020;136(Suppl 1):7.
Theoharides TC, et al. N Engl J Med. 2015;373(2):163–172.
Valent P, et al. Hemasphere. 2021;5(11):e646.
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