Genetic screening of triple negative thrombocytosis patients identifies germline MPL compound mutations and SH2B3/LNK truncating mutations

Key Points

• This research aims to identify the genetic mutations present in patients with triple negative thrombocytosis.
• Screened patients with triple negative thrombocytosis for genetic mutations
• Analyzed specific genes including MPL, SH2B3, and LNK
• Identified compound mutations in the MPL gene in a subset of patients
• Detected truncating mutations in the SH2B3 and LNK genes in several cases