[Comparison of Clinical Characteristics of JAK2, CALR and Tri-Negative Driving Mutant Type in Patients with Essential...

Area of Science:

• Hematology
• Oncology
• Genetics

Background:

• Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by an overproduction of platelets.
• Driver gene mutations, including JAK2, CALR, and MPL, are key in the pathogenesis of ET.
• Understanding the correlation between specific mutations and clinical manifestations is crucial for patient management.

Purpose of the Study:

• To investigate the relationship between specific driver gene mutations (JAK2, CALR, triple-negative) and clinical features in patients with essential thrombocythemia (ET).
• To analyze differences in thrombosis, splenomegaly, blood counts, and coagulation status based on mutation type.

Main Methods:

• Retrospective analysis of clinical data from 69 ET patients.
• Patients were categorized into JAK2, CALR, and triple-negative mutation groups.
• Comparison of demographic data, cardiovascular risk factors, thrombosis, splenomegaly, routine blood tests, and coagulation parameters.

Main Results:

• JAK2 mutation was the most frequent (46/69 patients).
• The JAK2 group exhibited the highest thrombotic rate (26.09%) and splenomegaly incidence (34.78%).
• Significant differences observed in white blood cell (WBC) counts, hemoglobin (Hb), hematocrit (HCT), platelet (PLT) counts, fibrinogen (Fg), and activated partial thromboplastin time (APTT) among the groups.

Conclusions:

• Distinct differences in blood cell counts and coagulation status exist among ET patients with varying driver gene mutations.
• JAK2-mutated ET patients present with higher thrombotic risk, increased WBC and Fg, and decreased PLT compared to CALR-mutated patients.
• Splenomegaly and HCT are significantly higher in JAK2-mutated patients compared to triple-negative ET.