MPL

Definition: The MPL gene encodes the receptor for thrombopoietin (THPO; MIM.600044), a hematopoietic growth factor that regulates the production of multipotent hematopoietic progenitor cells and platelets.

Pathology

 MPL germline mutations in

• congenital amegakaryocytic thrombocytopenia (MIM.604498)
• susceptibility to thrombocythemia
• autsomal dominant essential thrombocythemia
• somatic myelofibrosis with myeloid metaplasia (MIM.254450)

 Mutations in the MPL thrombopoietin receptor gene have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs).

• The MPL gene (HGNC:7217 MIM.159530 ) encodes the receptor for thrombopoietin (THPO; MIM.600044), a hematopoietic growth factor that regulates the production of multipotent hematopoietic progenitor cells and platelets.

 MPL mutation screening should be performed before JAK2 exons 12 to 14 testing in JAK2 V617F-negative patients with suspected MPDs. (21326037)

References

 MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders. Ma W, Zhang X, Wang X, Zhang Z, Yeh CH, Uyeji J, Albitar M. Diagn Mol Pathol. 2011 Mar;20(1):34-9. PMID: 21326037

Mutants

 MPL-W515L

References

 The analysis of JAK2 and MPL mutations and JAK2 single nucleotide polymorphisms in MPN patients by MassARRAY assay. Zhang SJ, Qiu HX, Li JY, Shi JY, Xu W. Int J Lab Hematol. 2010 Mar 23. PMID: 20331763

 JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. Siemiatkowska A, Bieniaszewska M, Hellmann A, Limon J. Leuk Res. 2010 Mar;34(3):387-9. PMID: 19643476

 Identification of MPL W515L/K mutations in patients with primary myelofibrosis and essential thrombocythaemia by allele-specific polymerase chain reaction. Daly S, Conneally E, Langabeer SE. Acta Haematol. 2009;121(4):221-2. PMID: 19521067