Emergence of MPLW515 mutation in a patient with CALR deletion: Evidence of secondary acquisition of MPL mutation in the CALR clone. Issue 1 (29th May 2017)

• Record Type: Journal Article
• Authors: Partouche, Nicolas; Conejero, Carole; Barathon, Quentin; Moroch, Julien; Tulliez, Michel; Cordonnier, Catherine; Giraudier, Stephane
• Is Part Of: Hematological oncology. Volume 36:Issue 1(2018)
• Page Start: 336
• Page End: 339
• Publication Date: 2017-05-29
• Subjects: CALR -- essential thrombocythemia -- MPL -- MPN -- myelofibrosis; Hematological oncology -- Periodicals; Hematology; Medical Oncology; 616.99418005
• DOI: 10.1002/hon.2431
• Languages: English
• ISSNs: 0278-0232

Abstract

Abstract: Myeloproliferative neoplasms are characterized by transduction pathway recognized as mutually exclusive molecular abnormalities such as BCR‐ABL translocation, JAK2V617F or JAK2 exon 12 mutations, MPL w515, and CALR mutations. However, in some rare cases, associations of such mutations are found in 1 patient. This can be related to 2 pathologies (at least 2 different clones harboring 2 mutations) or associated mutations in 1 clone. We describe here such an association of CALR and MPL mutations in a patient harboring the second mutation in a subclone during the phenotypic evolution of the myeloproliferative neoplasms.