1.
Haematologica
; 104(4): e134-e137, 2019 04.
Article
in English
| MEDLINE
| ID: mdl-30337359
Subject(s)
Calreticulin/genetics , Janus Kinase 2/genetics , Mutation , Receptors, Thrombopoietin/genetics , Thrombocythemia, Essential , Adult , Aged , Disease-Free Survival , Female , Follow-Up Studies , Humans , Male , Middle Aged , Prospective Studies , Survival Rate , Thrombocythemia, Essential/genetics , Thrombocythemia, Essential/mortality , Thrombocythemia, Essential/pathology , Thrombocythemia, Essential/therapy
2.
Am J Hematol
; 93(4): E84-E86, 2018 08.
Article
in English
| MEDLINE
| ID: mdl-29266414
Subject(s)
Calreticulin/genetics , Janus Kinase 2/genetics , Mutation , Myeloproliferative Disorders/genetics , Receptors, Thrombopoietin/genetics , Age Distribution , Aged , Disease Progression , Female , Follow-Up Studies , Gene Frequency , Humans , Kaplan-Meier Estimate , Leukemia, Myeloid, Acute/epidemiology , Male , Middle Aged , Myeloproliferative Disorders/mortality , Myeloproliferative Disorders/physiopathology , Phenotype , Prognosis , Proportional Hazards Models , Sex Distribution , Statistics, Nonparametric , Thrombosis/epidemiology , Thrombosis/etiology
3.
Hematol Oncol
; 36(1): 336-339, 2018 Feb.
Article
in English
| MEDLINE
| ID: mdl-28556926
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.
Subject(s)
Myeloproliferative Disorders/genetics , Thrombocythemia, Essential/genetics , Female , Humans , Mutation , Myeloproliferative Disorders/pathology , Sequence Deletion , Thrombocythemia, Essential/pathology , Young Adult
4.
Br J Haematol
; 175(1): 167-9, 2016 10.
Article
in English
| MEDLINE
| ID: mdl-26568271