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Published on: December 22, 2016
Anaemia characterises patients with myelofibrosis harbouring Mpl mutation
Paola Guglielmelli1, Alessandro Pancrazzi, Gaetano Bergamaschi
1Department of Haematology, University of Florence, Florence, Italy.
Abstract:
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated. Of 217 myelofibrosis subjects, 18 (8.2%) had an MPL mutation, four of which (22%) co-existed with JAK2(V617F) mutation. When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012). These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
Insights
Patients with myelofibrosis and MPL(W515L/K) mutation often present with more severe anemia. This MPL mutation is linked to older age, being female, and requiring transfusions.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Myelofibrosis is a bone marrow disorder.
- The MPL(W515L/K) mutation's clinical impact in myelofibrosis requires further investigation.
- JAK2(V617F) is a common mutation in myelofibrosis.
Purpose of the Study:
- To investigate the clinical and hematological characteristics of myelofibrosis patients with MPL(W515L/K) mutation.
- To compare these characteristics with MPL wild-type patients.
Main Methods:
- Retrospective analysis of 217 myelofibrosis patients.
- Genotyping for MPL and JAK2 mutations.
- Comparison of clinical and hematological data between MPL mutated and wild-type groups.
Main Results:
- MPL(W515L/K) mutation was found in 8.2% of patients (18/217).
- Four MPL mutated patients (22%) also had JAK2(V617F) mutation.
- MPL mutated patients were older, more frequently female, had lower hemoglobin levels, and required more transfusions compared to MPL wild-type patients.
Conclusions:
- MPL(W515L/K) mutation in myelofibrosis is associated with a more severe anemic phenotype.
- This finding highlights the importance of MPL mutation status in predicting disease severity and transfusion needs.
