Essential Thrombocythemia Associated With Germline JAK2 G571S Variant and Somatic CALR Type 1 Mutation

Abstract : In this study, we report on a family with a germline JAK2 G571S mutation with only one individual presenting with thrombocytosis, who also had a somatic CALR mutation (insertion p.K385fs*47). Our results highlight the complexity of the diagnosis of chronic thrombocytosis, and confirm that genetic alterations in the JAK2 and CALR genes are not always mutually exclusive, nor always responsible for disease phenotype. Our findings suggest that, in routine clinical practice, the diagnostic workup of patients with thrombocytosis should include the simultaneous investigation of JAK2, CALR, and MPL mutations (ie, should not stop once a mutation is identified in the JAK2 gene).
Type de document :
Article dans une revue
Clinical Lymphoma, Myeloma & Leukemia, Elsevier, 2016, 〈10.1016/j.clml.2016.02.039〉
Liste complète des métadonnées

Littérature citée [15 références]  Voir  Masquer  Télécharger

http://www.hal.inserm.fr/inserm-01294720
Contributeur : Elizabeth Bernardo <>
Soumis le : mardi 29 mars 2016 - 17:06:27
Dernière modification le : mercredi 28 mars 2018 - 13:26:03
Document(s) archivé(s) le : lundi 14 novembre 2016 - 08:35:22

Fichier

 Accès restreint
Fichier visible le : jamais

Connectez-vous pour demander l'accès au fichier

Identifiants

Collections

Citation

Irina Panovska-Stavridis, Aleksandar Eftimov, Martin Ivanovski, Aleksandra Pivkova-Veljanovska, Lidija Cevreska, et al.. Essential Thrombocythemia Associated With Germline JAK2 G571S Variant and Somatic CALR Type 1 Mutation. Clinical Lymphoma, Myeloma & Leukemia, Elsevier, 2016, 〈10.1016/j.clml.2016.02.039〉. 〈inserm-01294720〉

Partager

Métriques

Consultations de la notice

104