Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis

被引：25

作者：

Schnittger, S. ^{[1
]}

Bacher, U. ^{[2
]}

Haferlach, C. ^{[1
]}

Dengler, R.

Kroeber, A.

Kern, W. ^{[1
]}

Haferlach, T. ^{[1
]}

机构：

[1] MLL, Munich, Germany

[2] Univ Hosp Hamburg Eppendorf, Stem Cell Transplantat, Hamburg, Germany

来源：

LEUKEMIA | 2008年 / 22卷 / 02期

关键词：

D O I：

10.1038/sj.leu.2404909

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：453 / 455

页数：4

共 9 条

[1] The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS) [J].

Boissinot, Marjorie ;

Garand, Richard ;

Hamidou, Mohamed ;

Hermouet, Sylvie .

BLOOD, 2006, 108 (05) :1781-1782

[2] The JAK2 V617F mutation is rare in RARS but common in RARS-T [J].

Ceesay, M. M. ;

Lea, N. C. ;

Ingram, W. ;

Westwood, N. B. ;

Gaken, J. ;

Mohamedali, A. ;

Cervera, J. ;

Germing, U. ;

Gallermann, N. ;

Giagounidis, A. ;

Garcia-Casado, Z. ;

Sanz, G. ;

Mufti, G. J. .

LEUKEMIA, 2006, 20 (11) :2060-2061

[3] High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count > 600 x 109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable [J].

Gattermann, Norbert ;

Billiet, Johan ;

Kronenwett, Ralf ;

Zipperer, Esther ;

Germing, Ulrich ;

Nollet, Friedel ;

Criel, Arnold ;

Selleslag, Dominik .

BLOOD, 2007, 109 (03) :1334-1335

[4] 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

[5] MPLW515L is anovel somatic activating mutation in myelofibrosis with myeloid metaplasia [J].

Pikman, Yana ;

Lee, Benjamin H. ;

Mercher, Thomas ;

McDowell, Elizabeth ;

Ebert, Benjamin L. ;

Gozo, Maricel ;

Cuker, Adam ;

Wernig, Gerlinde ;

Moore, Sandra ;

Galinsky, Ilene ;

DeAngelo, Daniel J. ;

Clark, Jennifer J. ;

Lee, Stephanie J. ;

Golub, Todd R. ;

Wadleigh, Martha ;

Gilliland, D. Gary ;

Levine, Ross L. .

PLOS MEDICINE, 2006, 3 (07) :1140-1151

[6] Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain:: D620E and E627E [J].

Schnittger, S. ;

Bacher, U. ;

Kern, W. ;

Schroeder, M. ;

Haferlach, T. ;

Schoch, C. .

LEUKEMIA, 2006, 20 (12) :2195-2197

[7] Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults [J].

Shaw, GR .

BRITISH JOURNAL OF HAEMATOLOGY, 2005, 131 (02) :180-184

[8] The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes [J].

Steensma, DP ;

Dewald, GW ;

Lasho, TL ;

Powell, HL ;

McClure, RF ;

Levine, RL ;

Gilliland, DG ;

Tefferi, A .

BLOOD, 2005, 106 (04) :1207-1209

[9] Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation [J].

Szpurka, Hadrian ;

Tiu, Ramon ;

Murugesan, Gurunathan ;

Aboudola, Samer ;

Hsi, Eric D. ;

Theil, Karl S. ;

Sekeres, Mikkael A. ;

Maciejewski, Jaroslaw P. .

BLOOD, 2006, 108 (07) :2173-2181

← 1 →