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The Classic Myeloproliferative Neoplasms

Optimizing Laboratory Testing for Hematologic Disorders Series



JAK2 Exon 12 Sequencing Background

Slide 16

October 2011

Now I would like to give you some background information regarding the JAK2 exon 12 sequencing assay. Approximately 5% of PVs will be JAK2 V617F-negative, but will have an identifiable novel mutation in exons 12 to 14 of the JAK2 gene that can be identified only by sequencing studies. Thus, it appears that virtually all cases of PV will have some type of a JAK2 mutation. JAK2 exon 12 to 14 mutations are either felt to be absent or extremely rare in patients with ET or PMF. At Mayo Clinic, we have never seen a bona fide ET or PMF with a JAK2 exon 12 mutation. Remember, sequencing studies will also identify the JAK2 V617F mutation, which is in exon 14. But sequencing is more expensive, takes longer to get results, ie, a slower turnaround time, and is certainly less sensitive than RT-PCR, having a detection level of approximately 10%–20% versus PCR, which has a detection level of much less than 0.01%.

JAK2 Exon 12 Sequencing Background
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