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Myeloproliferative Leukemia (MPL) Mutation Analysis

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  • MPL found at 1p34, encodes the thrombopoetin receptor required for platelet production.
  • Upto 5% of JAK2V617F negative ET or Primary myelofibrosis (PMF) patients are reported to exhibit a MPL exon 10 mutation
  • Acquired MPL mutations (W515L & W515K) have been reported in Essential thrombocythemia (ET) (1%) & Myelofibrosis(MF) (5-7%) cases but not in Polycythemia vera (PV) & are associated with severe anemia.
  • An inherited MPL mutation (S505N; exon 10) has also been detected in patients with hereditary thrombocythemia.

Clinical Utility

  • Identification of MPL mutations can aid in the diagnosis of a myeloproliferative neoplasm and is highly suggestive of either PMF or ET.
  • MPL mutation would be beneficial in the differential diagnosis of unexplained Thrombocytosis or myelofibrosis.

When to go for the test:

Testing is recommended in patients with a clinical picture suggestive of clear picture of ET or PMF or who were found to be negative for the JAK2V617F mutation.