JAK2 (and other genes) be nimble with MPN diagnosis, prognosis, and therapy

Michele Ciboddo, Ann Mullally

Research output: Contribution to journalReview article

Abstract

Now that the spectrum of somatic mutations that initiate, propagate, and drive the progression of myeloproliferative neoplasms (MPNs) has largely been defined, recent efforts have focused on integrating this information into clinical decision making. In this regard, the greatest progress has been made in myelofibrosis, in which high-molecular-risk mutations have been identified and incorporated into prognostic models to help guide treatment decisions. In this chapter, we focus on advances in 4 main areas: (1) What are the MPN phenotypic driver mutations? (2) What constitutes high molecular risk in MPN (focusing on ASXL1)? (3) How do we risk-stratify patients with MPN? And (4) What is the significance of molecular genetics for MPN treatment? Although substantial progress has been made, we still have an incomplete understanding of the molecular basis for phenotypic diversity in MPN, and few rationally designed therapeutic approaches to target high-risk mutations are available. Ongoing research efforts in these areas are critical to understanding the biological consequences of genetic heterogeneity in MPN and to improving outcomes for patients.

Original languageEnglish
Pages (from-to)110-117
Number of pages8
JournalHematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program
Volume2018
Issue number1
DOIs
Publication statusPublished - Nov 30 2018
Externally publishedYes

Fingerprint

Genes
Neoplasms
Mutation
Therapeutics
Primary Myelofibrosis
Genetic Heterogeneity
Molecular Biology
Research

Keywords

  • Hematologic Neoplasms/diagnosis
  • Humans
  • Janus Kinase 2/genetics
  • Mutation
  • Myeloproliferative Disorders/diagnosis
  • Neoplasm Proteins/genetics
  • Prognosis
  • Repressor Proteins/genetics

Cite this

JAK2 (and other genes) be nimble with MPN diagnosis, prognosis, and therapy. / Ciboddo, Michele; Mullally, Ann.

In: Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, Vol. 2018, No. 1, 30.11.2018, p. 110-117.

Research output: Contribution to journalReview article

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