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When testing for patients with symptoms of MPN, do you prefer to do JAK2 cascade testing or a leukemia NGS testing panel?

As the cost of NGS decreases over time, is there still a need for more focused/targeted panels such as JAK2, CALR, and MPL? Are other genes important to find in case the patient may have CCUS?
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What is your first line genetic mutation testing for MPN?

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3 Answers
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Mednet MemberInvited Expert
Hematology · Johns Hopkins University
Answered on

Genetic testing with regard to the MPN can be usefully employed both diagnostically and prognostically. With respect to diagnosis, if an MPN is suspected based on symptoms such as aquagenic pruritis, ocular migraine, erythromelalgia, or the occurrence of an unexplained thrombosis, the first laborato...

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Mednet Member
Mednet MemberInvited Expert
Hematology · University of Chicago
Answered on · Updated on

Oftentimes, the symptoms related to MPNs are quite non-specific (fatigue, anorexia), so I typically look for other pieces of information from the CBC with differential and physical exam (e.g., splenomegaly). If the clinical suspicion for an MPN is high and I am pursuing confirmatory testing with a b...

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Mednet Member
Mednet MemberInvited Expert
Hematology · Johns Hopkins University
Answered on

MPN symptoms are largely nonspecific except for aspirin-sensitive erythromelalgia. Consequently, specific signs (laboratory and physical) need to be sought to support the suspicion of an MPN, which makes diagnostic testing cost-effective. Importantly, isolated erythrocytosis is rarely due to polycyt...

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