What is the role, if any, for next generation sequencing testing in patients with suspected MPN who test negative for commonly identified mutations such as JAK2, CALR, MPL, and BCR-ABL?

This is a very relevant question and one that comes up often as NGS testing has become widely available. First, it's important to remember that not all abnormal blood counts, high in particular = MPN or malignancy. This is especially true in patients with erythrocytosis as the vast majority of PV pa...

I agree with Dr. @Dr. First Last' detailed response. I would add that NGS sequencing with a broader panel of genes could identify less typical MPN mutations, like those in JAK2 exon 12 or genes like SH2B3 and CSF3R, for example, that would not be covered on more dedicated, single gene tests.

Here is...

There are a number of mutations both germline and somatic in the extracellular domain of the thrombopoietin receptor, MPL, that cause either thrombocytosis of a benign variety or, if somatic, ET or PMF. (Milosevic Feenstra et al., PMID 26423830) Remember also, some women with so-called triple-negati...