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MPL gene mutation is a possible risk factor for thrombosis in patients with essential thrombocythemia in Japan

Chiho Furuya1, Yoshinori Hashimoto2,3, Soji Morishita3,4

  • 1Department of Hematology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Hematology (Amsterdam, Netherlands)
|June 28, 2023
PubMed
Abstract

Insights

MPL mutations in essential thrombocythemia (ET) patients are linked to the highest thrombosis risk. These patients require intensive management to prevent recurrent thrombotic events.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • MPL mutations are rare driver gene mutations in essential thrombocythemia (ET).
  • Clinical characteristics and thrombosis association in Japanese ET patients with MPL mutations remain unclear.

Purpose of the Study:

  • To elucidate the clinical characteristics of Japanese ET patients with MPL mutations.
  • To investigate the association between MPL mutations and thrombotic events in ET.

Main Methods:

  • Enrolled 579 Japanese ET patients based on WHO 2017 classification.
  • Compared clinical characteristics of MPL-mutated patients (n=22) with JAK2V617F (n=299), CALR (n=144), and triple-negative (n=114) groups.

Main Results:

  • MPL-mutated ET patients showed the highest thrombosis rate (18.2%) during follow-up.
  • MPL- and JAK2V617F-mutated groups had significantly worse thrombosis-free survival (TFS) compared to CALR-mutated and triple-negative groups.
  • A history of thrombosis was a significant risk factor for recurrent thrombosis in MPL-mutated ET patients.

Conclusions:

  • MPL-mutated ET patients exhibit a high risk of thrombosis.
  • Intensive management strategies are crucial for MPL-mutated ET patients to prevent thrombosis recurrence.
Keywords:
MPL mutationessential thrombocythemiahistory of thrombosisrecurrent thrombosisrisk stratification

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