Humpath.com - Human pathology

Home > A. Molecular pathology > MPL

MPL

HGNC:7217 MIM.159530 1p34

Monday 26 April 2010

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

- 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