Integrating mutation variant allele frequency into clinical practice in myeloid malignancies

Hematol Oncol Stem Cell Ther. 2016 Sep;9(3):89-95. doi: 10.1016/j.hemonc.2016.04.003. Epub 2016 May 11.


Hematologic myeloid neoplasms represent a heterogeneous group of disorders with defined clinical and pathologic characteristics. However, intensive investigation into the genetic abnormalities of these diseases has not only significantly advanced our understanding, but also revolutionized our diagnostic and prognostic capabilities. Moreover, more recent discovery on the impact of clonal burden has highlighted the critical and dynamic role of clonal evolution over time, which is integrally linked to a patient's clinical trajectory. This review will highlight the evidence supporting the incorporation of allelic burden of somatic mutations into clinical practice for the diagnosis and prognosis of myeloid neoplasms.

Keywords: Acute myeloid leukemia; FLT3; Myelodysplastic syndrome; Next-generation sequencing; TP53; Variant allele frequency.

Publication types

  • Review

MeSH terms

  • Gene Frequency / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation / genetics*
  • Myeloproliferative Disorders / genetics*
  • Phenotype
  • Treatment Outcome