%0 Journal Article %T Essential Thrombocythemia Associated With Germline JAK2 G571S Variant and Somatic CALR Type 1 Mutation %+ University of Clinic of Hematology %+ Center for Biomolecular Pharmaceutical Analyses %+ Centre de Recherche en Cancérologie Nantes-Angers (CRCNA) %A Panovska-Stavridis, Irina %A Eftimov, Aleksandar %A Ivanovski, Martin %A Pivkova-Veljanovska, Aleksandra %A Cevreska, Lidija %A Hermouet, Sylvie %A Dimovski, Alexksandar %Z This work was supported by MPN & MPNr-EuroNet (ex-COST Action BM0902) and research funds from the Center forBiomolecular Pharmaceutical Analysis, UKIM-Faculty of Pharmacy,Skopje, Republic of Macedonia. %< avec comité de lecture %@ 2152-2650 %J Clinical Lymphoma, Myeloma & Leukemia %I Elsevier %8 2016 %D 2016 %R 10.1016/j.clml.2016.02.039 %M 27009537 %K CALR pK385fs*47 mutation %K Germ line %K JAK2 mutation %K Myeloproliferative neoplasms %K Thrombocythosis %Z Life Sciences [q-bio]/CancerJournal articles %X 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). %G English %2 https://inserm.hal.science/inserm-01294720/document %2 https://inserm.hal.science/inserm-01294720/file/Hermouet2016.pdf %L inserm-01294720 %U https://inserm.hal.science/inserm-01294720 %~ INSERM %~ UNIV-NANTES %~ CNRS %~ UNAM %~ CRCNA %~ INCIT