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Looking Deeper Into ISM and KIT Mutations, with Thanai Pongdee, MD
Pongdee also discussed the changing treatment landscape for indolent systemic mastocytosis and questions that will need to be answered in the field.
Indolent systemic mastocytosis (ISM) is a rare, clonal mast cell disease caused by KIT D816V mutations. Patients typically experience chronic debilitating symptoms including allergic type symptoms, gastrointestinal symptoms, and fatigue, and it often takes years for a correct diagnosis to be made.1
Thanai Pongdee, MD, allergist-immunologist at Mayo Clinic, is actively engaged in ISM research and coauthored a number of abstracts that were presented at the 2025 American Academy of Allergy, Asthma, and Immunology (AAAAI)/World Allergy Organization (WAO) Joint Congress, February 28-March 3, in San Diego, California.
One abstract Pongdee presented focused on using more sensitive duplex sequencing (DS) to detect KIT mutations that were undetectable by droplet digital PCR (ddPCR) in patients that received avapritinib in the PIONEER (NCT03731260), and associations with response.2 Pongdee and colleagues found that 70% of participants with undetectable KIT D816V by ddPCR had KIT mutations, including non-D816V mutations, detected by DS.
HCPLive spoke with Pongdee to learn more about the findings from the analysis. He also discussed the changing treatment landscape of ISM and questions that remain to be answered past the introduction of novel therapies.
“Once drugs are approved, then what? What's the course of disease after that? We really don't know that, so that'll be interesting to watch over time, and [effects on] some of the longer-term issues with mastocytosis, [including higher risk of] osteoporosis or bone disease,” Pongdee said. “Can these drugs affect or alter the course?”
Pongdee’s disclosures include GSK, Blueprint Medicines, and Sanofi.
REFERENCES
Systemic mastocytosis. Mayo Clinic. Updated November 20, 2020. Accessed March 11, 2025. https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859
Pongdee T, Vachhani P, Tashi T, et al. Responses to Avapritinib in Patients Without Detectable KIT Mutations by ddPCR in Peripheral Blood Highlight Diagnostic Challenges and Opportunities in Indolent Systemic Mastocytosis. Presented at: 2025 AAAAI/WAO Joint Congress, February 28-March 3. Abstract 965
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