Somatic mutations of JAK2 exon 12 as a molecular basis of erythrocytosis.
نویسنده
چکیده
Acute Promyelocytic Leukemia 1615-1622 Adhesion molecules and differentiation syndrome: phenotypic and functional analysis of the effect of ATRA, As2O3, phenylbutyrate, and G-CSF in acute promyelocytic leukemia Gil Cunha De Santis, Mirela de Barros Tamarozzi, Romualdo Sousa, Susana Elisa Moreno, Daniela Secco, Aglair Bergamo Garcia, Ana Sílvia Gouveia Lima, Lúcia Helena Faccioli, Roberto Passetto Falcão, Fernando Queirós Cunha, Eduardo Magalhães Rego Malignant Lymphomas 1623-1630 Outcome of adult T-lymphoblastic lymphoma after ALL-type treatment: a GOELAMS trial Mathilde Hunault, Malgorzata TruchanGraczyk, Denis Caillot, Jean-Luc Harousseau, Serge Bologna, Chantal Himberlin, Denis Guyotat, Christian Berthou, Philippe Casassus, Laurence Baranger, Marie-Christine Béné, Norbert Ifrah, Emmanuel Gyan for the GOELAMS Group
منابع مشابه
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
BACKGROUND The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS We searched f...
متن کاملSomatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.
We searched for JAK2 exon 12 mutations in patients with JAK2 (V617F)-negative myeloproliferative disorders. Seventeen patients with polycythemia vera (PV), including 15 sporadic cases and 2 familial cases, carried deletions or duplications of exon 12 in circulating granulocytes but not in T lymphocytes. Two of the 8 mutations detected were novel, and the most frequent ones were N542-E543del and...
متن کاملDetection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.
To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15.9%) in PV but only 5/346 (1.4%) in the erythrocytosis cases. Nine different mutations including four new types (D544-L545del, H538DK539LI540S, H538-K539del, V536-F547dup) wer...
متن کاملBlood Spotlight From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms
Our knowledge of the genetic basis of these disorders began in 2005, when a unique base substitution in JAK2, the gene encoding Janus kinase 2,was found inpatientswith polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The background of our investigations was the previous finding that copy-neutral loss of heterozygosity of chromosome 9p (9pLOH) is the most common chromosom...
متن کاملThe role of the Exon 13 G571S JAK2 mutation in myeloproliferative neoplasms
The exon 14 JAK2 V617F mutation has been well established as a driver mutation in polycythemia vera (PV) and other myeloproliferative neoplasms. JAK2 exon 12 mutations have also been implicated in PV, although patients with these mutations may show isolated erythrocytosis. Recently additional JAK2point mutations have been described-all in regions encoding the pseudokinase domain that regulates ...
متن کاملDetection of low allele burden of JAK2 exon 12 mutations using TA-cloning in patients with erythrocytosis.
OBJECTIVE Polycythemia vera (PV) is a clonal myeloproliferative neoplasia associated with the activation of the Janus-activating kinase 2 (JAK2) mutation. The aim of this study is to identify clonal expansion of exon 12 mutations. METHODS We performed DNA sequencing of the JAK2 exon 12 after TA-cloning in JAK2-V617F-negative and JAK2-V617F-positive PV patients. RESULTS AND CONCLUSIONS We fo...
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ورودعنوان ژورنال:
- Haematologica
دوره 92 12 شماره
صفحات -
تاریخ انتشار 2007