Title

Is Low Positive JAK2 V617F Mutation Test Result Clinically Significant?: Multi-Institutional Study

Publication Date

2015

Journal Title

Appl Immunohistochem Mol Morphol

Abstract

OBJECTIVES: Acquired somatic mutation Janus kinase 2 (JAK2) V617F is associated with various myeloproliferative neoplasms (MPN). Allele-specific real-time polymerase chain reaction has been widely adopted to detect mutation; however, the utility of low positive results is not well understood. The aim of this study is to investigate the clinical significance of low positivity of JAK2 V617F. MATERIALS AND METHODS: Retrospective analysis was performed for JAK2 V617F mutation tests performed using JAK2 MutaQuant kit (Ipsogen) in molecular laboratories at 2 major academic medical centers between 2010 and 2012. Cases with low positive JAK2 V617F, defined as 0.2% to 5% mutant allele, were documented. Chart review was performed for the clinical correlation. RESULTS: A total of 1697 JAK2 V617F tests was performed. Forty-five cases (2.65%) yielded a low JAK2 V617F positivity (average 1.45%), the majority of which (n=26, 62%) had

Volume Number

24

Issue Number

8

Pages

589-94

Document Type

Article

EPub Date

2015/09/16

Status

Faculty; Northwell Researcher

Facility

School of Medicine; Northwell Health

Primary Department

Pathology and Laboratory Medicine

PMID

26371429

DOI

10.1097/pai.0000000000000228