Myeloid somatic mutation panel testing in myeloproliferative neoplasms

Pathology. 2021 Apr;53(3):339-348. doi: 10.1016/j.pathol.2021.01.003. Epub 2021 Mar 3.


Myeloproliferative neoplasms are characterised by somatic mutations in pathways that regulate cell proliferation, epigenetic modifications, RNA splicing or DNA repair. Assessment of the mutational profile assists diagnosis and classification, but also aids assessment of prognosis, and may guide the use of emerging targeted therapies. The most practical way to provide information on numerous genetic variants is by using massively parallel sequencing, commonly in the form of disease specific next generation sequencing (NGS) panels. This review summarises the diagnostic and prognostic value of somatic mutation testing in Philadelphia-negative myeloproliferative neoplasms: polycythaemia vera, essential thrombocythaemia, primary myelofibrosis, chronic neutrophilic leukaemia, systemic mastocytosis, and chronic eosinophilic leukaemia. NGS panel testing is increasing in routine practice and promises to improve the accuracy and efficiency of pathological diagnosis and prognosis.

Keywords: Myeloproliferative neoplasms; PCR; diagnosis; mutations; prognosis.

Publication types

  • Review

MeSH terms

  • High-Throughput Nucleotide Sequencing
  • Humans
  • Hypereosinophilic Syndrome / diagnosis*
  • Hypereosinophilic Syndrome / genetics
  • Leukemia / diagnosis*
  • Leukemia / genetics
  • Leukemia, Neutrophilic, Chronic / diagnosis
  • Leukemia, Neutrophilic, Chronic / genetics
  • Mastocytosis, Systemic / diagnosis*
  • Mastocytosis, Systemic / genetics
  • Mutation
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics
  • Polycythemia Vera / diagnosis
  • Polycythemia Vera / genetics
  • Primary Myelofibrosis / diagnosis
  • Primary Myelofibrosis / genetics
  • Prognosis
  • Sequence Analysis, DNA
  • Thrombocythemia, Essential / diagnosis
  • Thrombocythemia, Essential / genetics

Supplementary concepts

  • Pdgfra-Associated Chronic Eosinophilic Leukemia