علاج الورم البدائي الجهازي مع طفرة KIT D816V في الورم البدائي الجهازي العدواني

References

• Patients with advanced SM frequently need MC cytoreductive therapy to reverse disease-related organ dysfunction.
• ASM is characterized by one or more C-findings (Table 5); of note, the definition of C-findings has undergone revision in the 2022 WHO classification.
• Avapritinib (BLU-285): received FDA approval for first-line treatment for adult patients with advanced SM, including those with ASM, SM-AMN and MCL in June 2021, based on data from EXPLORER (NCT02561988) and PATHFINDER (NCT03580655), two multicenter, single-arm, open-label clinical trials.
• Interim results from the PATHFINDER study, an ongoing registrational Phase 2 trial of avapritinib 200 mg daily in adult patients with advanced SM, were recently published.
• Recent data with potent tyrosine kinase inhibitors (TKI) that selectively target mutant-KIT have shown reversion of organ damage with marked decrease in BM MC burden, as well as the potential for KITD816V molecular remissions, suggesting the possibility of disease modifying therapeutic effect in patients with advanced SM.