Anaemia characterises patients with myelofibrosis harbouring MplW515L/K mutation

被引:120
作者
Guglielmelli, Paola
Pancrazzi, Alessandro
Bergamaschi, Gaetano
Rosti, Vittorio
Villani, Laura
Antonioli, Elisabetta
Bosi, Alberto
Barosi, Giovanni
Vannucchi, Alessandro M. [1 ]
机构
[1] Univ Florence, Dept Haematol, I-50134 Florence, Italy
[2] Policlin San Matteo, Lab Clin Epidemiol, Transplant Res Area, Unit Internal Med,Fdn Ist Ricovero & Cura Caratte, I-27100 Pavia, Italy
关键词
MPL mutation; myelofibrosis; JAK2(V617F); anaemia; myeloproliferative disorders;
D O I
10.1111/j.1365-2141.2007.06565.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPLW515L/K mutation has not been thoroughly investigated. Of 217 myelofibrosis subjects, 18 (8.2%) had an MPL mutation, four of which (22%) co-existed with JAK2(V617F) mutation. When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPLW515L/K, were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012). These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype.
引用
收藏
页码:244 / 247
页数:4
相关论文
共 12 条
[1]   Clinical implications of the JAK2 V617F mutation in essential thrombocythemia [J].
Antonioli, E ;
Guglielmelli, P ;
Pancrazzi, A ;
Bogani, C ;
Verrucci, M ;
Ponziani, V ;
Longo, G ;
Bosi, A ;
Vannucchi, AM .
LEUKEMIA, 2005, 19 (10) :1847-1849
[2]   The Italian consensus conference on diagnostic criteria for myelofibrosis with myeloid metaplasia [J].
Barosi, G ;
Ambrosetti, A ;
Finelli, C ;
Grossi, A ;
Leoni, P ;
Liberato, NL ;
Petti, MC ;
Pogliani, E ;
Ricetti, M ;
Rupoli, S ;
Visani, G ;
Tura, S .
BRITISH JOURNAL OF HAEMATOLOGY, 1999, 104 (04) :730-737
[3]   Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J].
Baxter, EJ ;
Scott, LM ;
Campbell, PJ ;
East, C ;
Fourouclas, N ;
Swanton, S ;
Vassiliou, GS ;
Bench, AJ ;
Boyd, EM ;
Curtin, N ;
Scott, MA ;
Erber, WN ;
Green, AR .
LANCET, 2005, 365 (9464) :1054-1061
[4]   Mechanisms of disease: The myeloproliferative disorders [J].
Campbell, Peter J. ;
Green, Anthony R. .
NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (23) :2452-2466
[5]   V617F mutation in JAK2 is associated idiopathic myelofibrosis [J].
Campbell, PJ ;
Griesshammer, M ;
Döhner, K ;
Döhner, H ;
Kusec, R ;
Hasselbalch, HC ;
Larsen, TS ;
Pallisgaard, N ;
Giraudier, S ;
Le Bousse-Kerdilès, MC ;
Desterke, C ;
Guerton, B ;
Dupriez, B ;
Bordessoule, D ;
Fenaux, P ;
Kiladjian, JJ ;
Viallard, JF ;
Brière, J ;
Harrison, CN ;
Green, AR ;
Reilly, JT .
BLOOD, 2006, 107 (05) :2098-2100
[6]   A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera [J].
James, C ;
Ugo, V ;
Le Couédic, JP ;
Staerk, J ;
Delhommeau, F ;
Lacout, C ;
Garçon, L ;
Raslova, H ;
Berger, R ;
Bennaceur-Griscelli, A ;
Villeval, JL ;
Constantinescu, SN ;
Casadevall, N ;
Vainchenker, W .
NATURE, 2005, 434 (7037) :1144-1148
[7]   Concurrent MPL515 and JAK2V617F mutations in myelofibrosis:: chronology of clonal emergence and changes in mutant allele burden over time [J].
Lasho, Terra L. ;
Pardanani, Animesh ;
McClure, Rebecca F. ;
Mesa, Ruben A. ;
Levine, Ross L. ;
Gilliland, D. Gary ;
Tefferi, Ayalew .
BRITISH JOURNAL OF HAEMATOLOGY, 2006, 135 (05) :683-687
[8]   Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis [J].
Levine, RL ;
Wadleigh, M ;
Cools, J ;
Ebert, BL ;
Wernig, G ;
Huntly, BJP ;
Boggon, TJ ;
Wlodarska, L ;
Clark, JJ ;
Moore, S ;
Adelsperger, J ;
Koo, S ;
Lee, JC ;
Gabriel, S ;
Mercher, T ;
D'Andrea, A ;
Fröhling, S ;
Döhner, K ;
Marynen, P ;
Vandenberghe, P ;
Mesa, RA ;
Tefferi, A ;
Griffin, JD ;
Eck, MJ ;
Sellers, WR ;
Meyerson, M ;
Golub, TR ;
Lee, SJ ;
Gilliland, DG .
CANCER CELL, 2005, 7 (04) :387-397
[9]  
MESA RA, 2007, LEUKEMIA RES
[10]   MPL515 mutations in myeloproliferative and other myeloid disorders:: a study of 1182 patients [J].
Pardanani, Animesh D. ;
Levine, Ross L. ;
Lasho, Terra ;
Pikman, Yana ;
Mesa, Ruben A. ;
Wadleigh, Martha ;
Steensma, David P. ;
Elliott, Michelle A. ;
Wolanskyj, Alexandra R. ;
Hogan, William J. ;
McClure, Rebecca F. ;
Litzow, Mark R. ;
Gilliland, D. Gary ;
Tefferi, Ayalew .
BLOOD, 2006, 108 (10) :3472-3476