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Interpretation 2347
Tier 1
MPL
Variants
MPL Y591D
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Myeloproliferative Neoplasm
Essential Thrombocythemia
Primary Myelofibrosis
Interpretation

This MPL variant has been previously reported in the COSMIC database (COSM28997) and has been reported to be an activating mutation (PubMed ID: 26423830, Milosevic Feenstra et al., Blood 2016).

Citations
  1. Milosevic Feenstra JD, et al. Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms. Blood 2016;127(3):325-32
Last updated: 2019-05-31 15:44:29 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017

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