Major progress has been made in the treatment of systemic mastocytosis (SM), but patients with the most aggressive forms of the disease still need more options, according to a recent review published in Mædica.
The biggest breakthrough is the use of tyrosine kinase inhibitors (TKIs), such as midostaurin and avapritinib. These medicines directly target the mutations of the KIT D816V gene, which drive the disease. “The targeted inhibition of mutated KIT kinase has offered unprecedented opportunities for improved disease control, symptomatic relief, and enhanced quality of life for patients,” the researchers said.
Supportive treatments remain important for managing the symptoms of SM. AntihistaminesAntihistamines Medications that block the effects of histamine, the chemical found in mast cells that is responsible for many of the symptoms of SM, as well as many allergic reactions. (such as H1 and H2 blockers) and mast cellMast cell A type of white blood cell produced in the bone marrow. They help defend against infections and play a key role in allergic reactions. In SM, mast cells become overactive and build up throughout the body. stabilizers (like sodium cromolyn) help control flushing, itching and stomach upset. EpinephrineEpinephrine Also called adrenaline, this hormone is used in emergency situations to reverse symptoms during a severe allergic reaction (anaphylaxis). auto-injectors are essential for patients at risk of severe allergic reactions (anaphylaxisAnaphylaxis A severe allergic reaction that can turn fatal without treatment. Patients with SM are at a higher risk of developing anaphylaxis.). Monoclonal antibodies like omalizumab are prescribed to some patients to control severe allergic symptoms, including recurrent anaphylaxis and hives (urticaria).
Bone health treatments, including bisphosphonates and calcium and vitamin D supplements, are recommended to prevent and treat osteoporosis and fractures, which are common in SM.
For more advanced, fast-spreading or treatment-resistant disease, stronger options exist. These include cladribine (a chemotherapy drug) and, in some cases, stem cell transplantation, which may cure the disease but carries significant risks.
Read more about SM treatment and care
However, challenges remain. Some forms of SM — such as SM with another blood cancer (systemic mastocytosisMastocytosis Rare disease caused by the buildup of mast cells. Cutaneous mastocytosis primarily affects the skin and is more common in children, while systemic mastocytosis affects internal organs and is more common in adults. with associated hematologic neoplasm, SM-AHN) or mast cell leukemiaMast cell leukemia The most severe subtype of SM, caused by the rapid buildup of immature mast cells in the bone marrow and blood. Mast cell leukemia accounts for less than 5% of SM cases and has a poor prognosis. (MCL) — often do not respond well to current therapies. “These forms of SM continue to exhibit limited responsiveness to standard therapies, thereby underscoring an urgent need for novel treatment modalities,” the authors noted.
Looking ahead, researchers are testing next-generation TKIs (such as bezuclastinib and elenestinib) to learn how their effectiveness and side effects compare to current TKITyrosine kinase inhibitor Targeted therapies designed to block the KIT D816V mutation that drives most cases of SM. Includes avapritinib, midostaurin and imatinib. drugs.
There is also growing interest in combination therapies, which use TKIs together with other targeted drugs, chemotherapy or immune-based treatments. This approach may be helpful when the disease stops responding to one medicine alone.
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