JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms

被引：14
|
作者：
Siemiatkowska, Anna [1 ]
Bieniaszewska, Maria [2 ]
Hellmann, Andrzej [2 ]
Limon, Janusz [1 ]
机构：
[1] Med Univ Gdansk, Dept Biol & Genet, PL-80210 Gdansk, Poland
[2] Med Univ Gdansk, Dept Hematol & Transplantol, PL-80210 Gdansk, Poland
来源：
LEUKEMIA RESEARCH | 2010年 / 34卷 / 03期
关键词：
JAK2; mutations; MPL mutations; Polycythemia vera; Essential thrombocythemia; Idiopathic myelofibrosis; TYROSINE KINASE JAK2; POLYCYTHEMIA-VERA; ACTIVATING MUTATION; MYELOID METAPLASIA; DISORDERS; MYELOFIBROSIS; EXON-12;
D O I：
10.1016/j.leukres.2009.06.017
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders. Our results confirm that routine JAK2 analysis should include exon 12 mutations in polycythemia vera patients. MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm. (C) 2009 Elsevier Ltd. All rights reserved.
引用
收藏
页码：387 / 389
页数：3
相关论文
共 50 条
  • [21] JAK2 GGCC haplotype in MPL mutated myeloproliferative neoplasms
    Pietra, Daniela
    Casetti, Ilaria
    Da Via, Matteo C.
    Elena, Chiara
    Milanesi, Chiara
    Rumi, Elisa
    AMERICAN JOURNAL OF HEMATOLOGY, 2012, 87 (07) : 746 - 747
  • [22] Cooccurring JAK2 V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms
    Mambet, Cristina
    Babosova, Olga
    Defour, Jean-Philippe
    Leroy, Emilie
    Necula, Laura
    Stanca, Oana
    Tatic, Aurelia
    Berbec, Nicoleta
    Coriu, Daniel
    Belickova, Monika
    Kralova, Barbora
    Lanikova, Lucie
    Vesela, Jitka
    Pecquet, Christian
    Saussoy, Pascale
    Havelange, Violaine
    Diaconu, Carmen C.
    Divoky, Vladimir
    Constantinescu, Stefan N.
    BLOOD, 2018, 132 (25) : 2695 - 2699
  • [23] Detection of JAK2 V617F mutation increases the diagnosis of myeloproliferative neoplasms
    Zhang, Shu-Peng
    Li, Hui
    Lai, Ren-Sheng
    ONCOLOGY LETTERS, 2015, 9 (02) : 735 - 738
  • [24] The impact of JAK2V617F mutation on Philadelphia-negative myeloproliferative neoplasms
    Sahin, Ezgi
    Yonal-Hindilerden, Ipek
    Hindilerden, Fehmi
    Aday, Aynur
    Nalcaci, Meliha
    TURKISH JOURNAL OF MEDICAL SCIENCES, 2022, 52 (01) : 150 - 165
  • [25] Detectiion of JAK2 Exoa 12 Mutatriorns JAK2 V617F-Negative Pollycythemtia Vera Patriernts by Cloning Technique
    Leszczynska, Aleksandra
    Grzenkowicz-Wydra, Jolanta
    Chmielewska-Gorycka, Lidia
    Bieniaszewska, Maria
    Hellmann, Andrzej
    ACTA HAEMATOLOGICA, 2016, 136 (02) : 123 - 128
  • [26] Rapid identification of heterozygous or homozygous JAK2V617F mutations in myeloproliferative neoplasms using melting curve analysis
    Ho, Ching-Liang
    Wu, Yi-Ying
    Hung, Hsiu-Man
    Chang, Ping-Ying
    Kao, Wei-You
    Chen, Yeu-Chin
    Chao, Tsu-Yi
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2012, 111 (01) : 34 - 40
  • [27] JAK2 V617F and beyond: role of genetics and aberrant signaling in the pathogenesis of myeloproliferative neoplasms
    Oh, Stephen T.
    Gotlib, Jason
    EXPERT REVIEW OF HEMATOLOGY, 2010, 3 (03) : 323 - 337
  • [28] Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations
    Langabeer, Stephen E.
    Haslam, Karl
    Linders, Jennifer
    Percy, Melanie J.
    Conneally, Eibhlin
    Hayat, Amjad
    Hennessy, Brian
    Leahy, Maeve
    Murphy, Karen
    Murray, Margaret
    Ainle, Fionnuala Ni
    Thornton, Patrick
    Sargent, Jeremy
    FAMILIAL CANCER, 2014, 13 (04) : 659 - 663
  • [29] Simultaneous detection of JAK2, CALR, and MPL mutations and quantitation of JAK2 V617F allele burden in myeloproliferative neoplasms using the quenching probe-Tm method in i-densy IS-5320
    Arai, Kunihito
    Sakaguchi, Masahiro
    Yui, Shunsuke
    Kitano, Tomoaki
    Miyata, Miho
    Yogosawa, Mayumi
    Nakayama, Kazutaka
    Tajika, Kenji
    Usuki, Kensuke
    Kuroda, Junya
    Uoshima, Nobuhiko
    Kobayashi, Yutaka
    Uchiyama, Hitoji
    Kubota, Yasushi
    Kimura, Shinya
    Mori, Shinichiro
    Hirai, Mitsuharu
    Wakita, Satoshi
    Yamaguchi, Hiroki
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2022, 44 (06) : 1102 - 1110
  • [30] The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms
    Trifa, Adrian P.
    Cucuianu, Andrei
    Petrov, Ljubomir
    Urian, Laura
    Militaru, Mariela S.
    Dima, Delia
    Pop, Ioan V.
    Popp, Radu A.
    ANNALS OF HEMATOLOGY, 2010, 89 (10) : 979 - 983
12345