Myeloproliferative neoplasms (MPN) develop as a disease of aging, due to the disruption of normal hematopoiesis, triggered by somatic mutations and a sustained inflammatory cycle. Driving variants within JAK2, MPL, and CALR are associated with various subtypes of MPN, with known targeted therapeutics and guided patient prognosis. Targeted clinical testing for the diagnosis of these precise driving variants within these key genes has an integral role for personalized medicine.

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Multiplex PCR for the Rapid Diagnosis of Myeloproliferative Neoplasms

  • Laura Semenuk,
  • Alissa Palazzolo,
  • Kristen McCambridge,
  • Henry Wong,
  • Michael J. Rauh,
  • Harriet Feilotter,
  • Graeme Quest

摘要

Myeloproliferative neoplasms (MPN) develop as a disease of aging, due to the disruption of normal hematopoiesis, triggered by somatic mutations and a sustained inflammatory cycle. Driving variants within JAK2, MPL, and CALR are associated with various subtypes of MPN, with known targeted therapeutics and guided patient prognosis. Targeted clinical testing for the diagnosis of these precise driving variants within these key genes has an integral role for personalized medicine.