A novel germlineJAK2mutation in familial myeloproliferative neoplasms
نویسندگان
چکیده
منابع مشابه
Germline RBBP6 mutations in familial myeloproliferative neoplasms.
Ashot S. Harutyunyan, Roberto Giambruno, Christian Krendl, Alexey Stukalov, Thorsten Klampfl, Tiina Berg, Doris Chen, Jelena D. Milosevic Feenstra, Roland Jäger, Bettina Gisslinger, Heinz Gisslinger, Elisa Rumi, Francesco Passamonti, Daniela Pietra, André C. Müller, Katja Parapatics, Florian P. Breitwieser, Richard Herrmann, Jacques Colinge, Keiryn L. Bennett, Giulio Superti-Furga, Mario Cazzol...
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The myeloproliferative neoplasms are chronic myeloid cancers divided in Philadelphia positive (Ph+), chronic myeloid leukemia, or negative: polycythemia vera (PV) essential thrombocythemia (ET), and primary myelofibrosis (PMF). Most Ph negative cases have an activating JAK2 or MPL mutation. Recently, somatic mutations in the calreticulin gene (CALR) were detected in 56-88% of JAK2/MPL-negative ...
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A decade on from the description of JAK2 V617F, the MPNs are circumscribed by an increasingly intricate landscape. There is now evidence that they are likely the result of combined genetic dysregulation, with several mutated genes involved in the regulation of epigenetic mechanisms. Epigenetic changes are not due to a change in the DNA sequence but are reversible modifications that dictate the ...
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Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, an...
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A 67-year-old man was admitted to our hospital with worsening odynophagia. He had been diagnosed as having chronic neutrophilic leukemia based on excessive neutrophilia without blasts, anemia, hyperplastic bonemarrowwith normal neutrophilic maturation, and hepatosplenomegaly, without bcr/abl rearrangement [1]. Finally, he was rediagnosed as having myeloproliferative neoplasm (MPN), unclassifiab...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2014
ISSN: 0361-8609
DOI: 10.1002/ajh.23614