From Philadelphia-Negative to JAK2-Positive: Effect of Genetic Discovery on Risk Stratification and Management

Naveen Pemmaraju, Alison R Moliterno

Research output: Contribution to journalReview article


The 2005 discovery of the JAK2 mutation redefined the diagnosis and natural history of myeloproliferative neoplasms (MPNs). Most importantly, this improvement in the pathobiologic conceptualization has focused our evolution of this field from being defined as what it is not (e.g., Philadelphia [Ph]-negative) to what it is (e.g., JAK2-positive, CALR-positive) in the majority of MPN cases. In the ensuing 10 years, the field has experienced a paradigm shift in terms of understanding of the biologic basis of the development of MPNs, an explosion of knowledge of the genetics of MPNs, and has translated disease knowledge into effective targeted therapies. With greater uniformity and agreement on the diagnosis and differences among the individual MPNs, augmented by improved cytogenetic and molecular classification, attention has turned now to addressing the need for uniformity in risk stratification of patients in the clinic for both disease complications and disease transformation. This article will highlight the developments in the field with regard to risk stratification and prognostication in MPNs with focus on the clinical aspects of the patient who presents with either essential thrombocytosis (ET), polycythemia vera (PV), or myelofibrosis (MF).

Original languageEnglish (US)
Pages (from-to)139-145
Number of pages7
JournalAmerican Society of Clinical Oncology educational book / ASCO. American Society of Clinical Oncology. Meeting
Publication statusPublished - 2015


ASJC Scopus subject areas

  • Medicine(all)

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