ZSFG AM Report Pearls 3/28/2018: B-b-b-b-b-bad, Bad to the Bone Marrow: ET, PV, and MDS Mutations and Work-Up

On this day, we discussed an elderly patient who presented with leukocytosis and severely elevated platelets. We discussed the DDx for these findings as well as some of the common genetic tests. Shout out to Corynn Kasap for dropping some serious knowledge on all of us!

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See the NEJM article referenced in the sources for more information, but this is super interesting!

Myeloproliferative Neoplasms:

These are three hematopoietic stem-cell disorders that share mutations that activate the physiologic signal-transduction pathways responsible for hematopoiesis.

  • Polycythemia vera
  • Essential thrombocytosis
  • Primary myelofibrosis

The mutations that are most commonly involved in these diseases include:

  • JAK2
  • MPL
  • CALR
  • Cases are often from sporadic mutation, but about 7% of cases involve familial predisposition
  • Pathogenic mutations have been identified in more than 90% of patient with myeloproliferative neoplasms
    • 50-60% of patient have only a driver mutation: JAK2, CALR, MPL or in rare cases LNK
    • These mutations are not mutually exclusive, nor are they exclusive to a particular myeloproliferative neoplasm and their absence does not preclude any of these neoplasms!
  • These myeloproliferative neoplasms can evolve into others and can develop into AML
Source:
  • Spivak JL. (2017). Myeloproliferative neoplasms. NEJM. 376:2168-2181.

Evernote:

 

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