Background:

The majority of patients with chronic myeloproliferative neoplasms (MPNs)- polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) carry an acquired V617F point mutation in the JAK2 kinase and in some patients, a lower frequency of JAK2 exon 12 mutation.  Screening for these mutations in patients with myeloproliferative lesions in the bone marrow not only helps to establish a diagnosis but is also predicted to impact the clinical outcome of these neoplasms.

Our laboratory takes a reflexive approach to testing; JAK2 V617F will be tested first, if negative, then JAK2 Exon 12 testing is performed.

Reasons for Referral:
The JAK2 mutation testing is done on BCR-ABL negative myeloproliferative neoplasms for molecularly sub-classification and is consistent with the diagnosis of clonal hematopoeitic myeloproliferative stem cell disorder. It is also important in predicting responses to targeted and/or non-targeted therapy.

Methodology:

JAK2 V617F: Allele-specific polymerase chain reaction.

JAK2 Exon 12: Sanger sequencing of exon 12.

Sensitivity:
JAK2 V617F: This assay is quantitative for the V617F JAK2 mutation and is capable of detecting V617F at 0.1% abundance in a background of wild-type gene targets.

JAK2 Exon 12: Approximately 20% mutant allele abundance in a background of wild-type gene targets.

Specimen Requirements:

  • Blood:  5-7mL EDTA or ACD (Solution A or B)
  • Bone Marrow: 2-3mL EDTA or ACD (Solution A or B)

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.

Test Performed (Days):

Weekly

Turn Around Time:

7-14 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.
  • References:

    Additional Info:

    The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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