[Clinical and biological features of patients with essential thrombocythaemia according to their mutational status JAK2 or CALR: Single-center study of 40 patients and review of the literature].
In: Pathologie-biologie, Jg. 63 (2015-06-01), Heft 3, S. 117-21
academicJournal
Zugriff:
Background: Somatic mutations in the calreticulin gene (CALR) were recently described in essential thrombocythemia (ET) and primary myelofibrosis with non-mutated JAK2 or MPL. The aim of this single-center study was to compare the clinical and biological features of ET patients according to their mutational status.
Methods: We included 40 patients with ET followed in hematology consultation. The JAK2 V617F mutation was assessed by quantitative PCR. For the detection of CALR mutations, we performed a PCR amplification of CALR exon 9 followed by direct sequencing.
Results: Among 40 study patients, 23 (57.5%) harbored V617F JAK2, 12 of the 17 patients without JAK2 mutation harbored CALR, no patient expressed MPL mutation and 5 were negative for all three mutations. Five types of mutations were identified with predominance of 52bp deletion and 5bp insertion (7/12 and 2/12 respectively). The incidence of thrombotic events at diagnosis was significantly higher in JAK2 mutated patients (P<0.05). Biologically, patients with CALR mutation had significantly higher platelet count (P<0.01) and significantly lower hemoglobin level (P<0.05) than those with V617F JAK2 mutation.
Conclusion: JAK2 and CALR mutation screening in ET has a diagnostic value. Each mutation displays a distinct phenotype with uncertain impact on long-term outcome.
(Copyright © 2015 Elsevier Masson SAS. All rights reserved.)
Titel: |
[Clinical and biological features of patients with essential thrombocythaemia according to their mutational status JAK2 or CALR: Single-center study of 40 patients and review of the literature].
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Autor/in / Beteiligte Person: | Ben Said, M ; Gandrille, S ; Fischer, AM ; Darnige, L |
Zeitschrift: | Pathologie-biologie, Jg. 63 (2015-06-01), Heft 3, S. 117-21 |
Veröffentlichung: | 2000- : Paris : Elsevier ; <i>Original Publication</i>: Paris, Expansion scientifique française., 2015 |
Medientyp: | academicJournal |
ISSN: | 1768-3114 (electronic) |
DOI: | 10.1016/j.patbio.2015.01.001 |
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