Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis.
نویسندگان
چکیده
MLL Munich Leukemia Laboratory, Munich; Clinic for Stem Cell Transplantation, University Hospital of Hamburg, Hamburg-Eppendorf; University Hospital of Essen, Department of Bone Marrow Transplantation, Essen; Munich Oncology Practice, MVZ Elisenhof, Munich; Hematology & Oncology Practice, Plüderhausen; Hematology & Oncology Group Practice, Regensburg; Medical Treatment Centre Osthessen Ltd., Hematology & Oncology Practice, Fulda; Hematology & Oncology Practice, Erlangen; Hematology Practice, Wendlingen; Medical Treatment Centre am Bruderwald, Hematology & Oncology Practice, Bamberg; Hematology & Oncology Practice, Lörrach; Hematology & Oncology Practice, VillingenSchwenningen; Hematology & Oncology Practice, Trier; Internist, Hematology & Oncology Practice, München; Hospital of Krefeld, Medical Clinic II, Krefeld; Hematology & Oncology Practice, Rosenheim, Germany; Hematology & Oncology Practice, Koblenz, Germany
منابع مشابه
Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow.
We investigated 15,542 patients with suspected BCR-ABL1- negative myeloproliferative or myelodysplastic/myeloproliferative neoplasm (including 359 chronic myelomonocytic leukemia) by a molecular marker set. JAK2V617F was detected in the suspected categories as follows: polycythemia vera 88.3%, primary myelofibrosis 53.8%, essential thrombocythemia 50.2%, and not further classifiable myeloprolif...
متن کاملUse of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.
We analyzed 636 patients with diverse myeloproliferative neoplasms or myelodysplastic/myeloproliferative neoplasms for mutations of the Casitas B-cell lymphoma gene (CBL(mut)) in exons 8 and 9 and performed correlations to other genetic alterations. CBL(mut) were detected in 63 of 636 (9.9%) of these selected patients. CBL(mut) were more frequent in myelodysplastic/myeloproliferative neoplasms ...
متن کاملThrombocytosis.
Major progress in understanding the pathogenesis in patients with thrombocytosis has been made by identifying mutations in the key regulators of thrombopoietin: the thrombopoietin receptor MPL and JAK2. Together, these mutations can be found in 50% to 60% of patients with essential thrombocythemia or primary myelofibrosis and in 10% to 20% of hereditary thrombocytosis. A decrease in expression ...
متن کاملDisruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes.
BACKGROUND The myeloproliferative neoplasms, essential thrombocytosis, polycythemia vera and primary myelofibrosis, share the same acquired genetic lesion, but the concept of JAK2 V617F serving as the sole lesion responsible for these neoplasms is under question, and there has been interest in identifying additional mutations that may contribute to disease pathogenesis. Because ASXL1 lesions ha...
متن کاملComparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis
Objectives To compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET). Methods Next-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared. Results Mutation rates of ASXL1 and SRSF2 were significantly higher in PMF than in PV or ET. ASXL1 mutations appeared to be more ...
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ورودعنوان ژورنال:
- Haematologica
دوره 94 1 شماره
صفحات -
تاریخ انتشار 2009