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Essential thrombocythaemia with mutation in MPL: clinicopathological correlation and comparison with

Alberto Alvarez-Larran1, Daniel Martínez2, Leonor Arenillas3

  • 1Hematology Department, Hospital Clínic-IDIBAPS, Barcelona, Spain.

Journal of Clinical Pathology
|June 24, 2018
PubMed
Abstract

Insights

MPL-mutated essential thrombocythaemia (ET) shares features with CALR-mutated ET, but rarely shows prefibrotic myelofibrosis. MPL-mutated ET patients are older, with higher platelets and lower hemoglobin than JAK2-mutated ET.

Area of Science:

  • Hematology
  • Molecular Biology
  • Oncology

Background:

  • Essential thrombocythaemia (ET) is a myeloproliferative neoplasm characterized by increased platelet production.
  • Genetic mutations, including JAK2, CALR, and MPL, are key drivers of ET pathogenesis.
  • Understanding genotype-specific clinical and histological features is crucial for accurate diagnosis and management.

Purpose of the Study:

  • To characterize the clinical and histological features of MPL-mutated essential thrombocythaemia (ET).
  • To compare these features with JAK2-mutated and CALR-mutated ET.
  • To investigate differences among various MPL mutation types.

Main Methods:

  • Central review of 175 bone marrow biopsies from ET patients according to the 2016 WHO classification.
  • Genotyping for MPL, JAK2V617F, and CALR mutations.
  • Comparison of clinical data and bone marrow histology among the three genotypes.

Main Results:

  • MPL-mutated ET patients were older, with higher platelet counts and lower hemoglobin than JAK2V617F-mutated ET.
  • Megakaryocyte counts were higher in MPL- and CALR-mutated ET compared to JAK2V617F-mutated ET.
  • Prefibrotic myelofibrosis features were rare in MPL-mutated ET, unlike in CALR-mutated ET.

Conclusions:

  • MPL- and CALR-mutated ET share clinical and histological similarities.
  • Prefibrotic myelofibrosis is uncommon in MPL-mutated ET, distinguishing it from CALR-mutated ET.
  • No significant differences were observed in clinical or histological characteristics based on MPL mutation type.
Keywords:
diagnostic hematologyessential thrombocythemiageneticshistopathologymyeloproliferative neoplasms

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