[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]. / Caractéristiques clinico-biologiques des patients avec thrombocytémie essentielle en fonction de leur statut mutationnel JAK2 ou CALR : étude monocentrique de 40 patients et revue de la littérature.
Pathol Biol (Paris)
; 63(3): 117-21, 2015 Jun.
Article
in Fr
| MEDLINE
| ID: mdl-25840625
ABSTRACT
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Heterogeneity
/
Calreticulin
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Janus Kinase 2
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Thrombocythemia, Essential
Limits:
Adolescent
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Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
Language:
Fr
Journal:
Pathol Biol (Paris)
Year:
2015
Document type:
Article