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MPL
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Interpretation 2349
Tier 1
MPL
Variants
MPL S505N
Primary Sites
Blood
Bone Marrow
Tumor Types
Essential Thrombocythemia
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Myeloproliferative Neoplasm
Primary Myelofibrosis
Interpretation

The MPL p.S505N mutation is a recurrent mutation in some myeloproliferative and/or myeloproliferative/myelodysplastic disorders. It has also been reported in familial essential thrombocythemia. Biochemical studies of this variant have shown that it leads to moderate activation of downstream pathways including MEK-1/-2 and STAT5, which represent potentially targetable pathways.

Citations
  1. Ding J, et al. The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. Blood 2009;114(15):3325-8
Last updated: 2019-07-04 02:57:03 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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