Total serum tryptase: a predictive marker for KIT mutation in acute myeloid leukemia

Area of Science:

• Hematology
• Oncology
• Biochemistry

Background:

• Human tryptase is a mast cell-expressed serine protease.
• Previous in vitro studies showed AML blast cells can differentiate into mast cell-like cells, releasing tryptase.
• The clinical significance of serum tryptase in acute myeloid leukemia (AML) requires further investigation.

Purpose of the Study:

• To correlate total serum tryptase (ts-try) levels with cytogenetic features and KIT mutational status in AML patients at diagnosis.
• To evaluate the potential of ts-try as a diagnostic marker in AML.

Main Methods:

• Serum samples from 155 AML patients at diagnosis were analyzed for total serum tryptase (ts-try).
• Statistical analysis was used to correlate ts-try levels with cytogenetic abnormalities (t(8;21), inv(16)) and KIT mutational status.
• Ts-try levels were monitored in patients achieving complete remission.

Main Results:

• Elevated ts-try (>15 ng/mL) was detected in 45% (70/155) of AML patients.
• High ts-try levels showed a significant association with t(8;21) and inv(16) chromosomal abnormalities.
• Elevated ts-try levels decreased to normal ranges upon achieving complete remission.
• A strong correlation was observed between elevated ts-try and KIT mutations, particularly in patients with t(8;21).

Conclusions:

• Total serum tryptase is frequently elevated in AML patients at diagnosis.
• Elevated ts-try is significantly associated with specific cytogenetic features and KIT mutations in AML.
• Measuring ts-try at diagnosis may serve as a valuable, simple tool to identify AML patients who would benefit from KIT mutation screening.