UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation

被引：40

作者：

Szpurka, H. ^{[1
]}

Gondek, L. P. ^{[1
]}

Mohan, S. R. ^{[1
]}

Hsi, E. D. ^{[2
]}

Theil, K. S. ^{[2
]}

Maciejewski, J. P. ^{[1
]}

机构：

[1] Cleveland Clin, Taussig Canc Inst, Expt Hematol & Hematopoiesis Sect, Dept Blood Disorders & Hematol Malignancies, Cleveland, OH 44106 USA

[2] Cleveland Clin, Dept Clin Pathol, Cleveland, OH 44106 USA

来源：

LEUKEMIA | 2009年 / 23卷 / 03期

关键词：

RINGED SIDEROBLASTS; REFRACTORY-ANEMIA; MARKED THROMBOCYTOSIS;

D O I：

10.1038/leu.2008.249

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

[No abstract available]

引用

页码：610 / 614

页数：6

共 8 条

[1] Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias [J].

Fitzgibbon, J ;

Smith, LL ;

Raghavan, M ;

Smith, ML ;

Debernardi, S ;

Skoulakis, S ;

Lillington, D ;

Lister, TA ;

Young, BD .

CANCER RESEARCH, 2005, 65 (20) :9152-9154

[2] SNP Array Karyotyping Allows for the Detection of Uniparental Disomy and Cryptic Chromosomal Abnormalities in MDS/MPD-U and MPD [J].

Gondek, Lukasz P. ;

Dunbar, Andrew J. ;

Szpurka, Hadrian ;

McDevitt, Michael A. ;

Maciejewski, Jaroslaw P. .

PLOS ONE, 2007, 2 (11)

[3] 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

[4] 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

[5] JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis [J].

Schmitt-Graeff, Annette H. ;

Teo, Soon-Siong ;

Olschewski, Manfred ;

Schaub, Franz ;

Haxelmans, Sabine ;

Kirn, Andreas ;

Reinecke, Petra ;

Germing, Ulrich ;

Skoda, Radek C. .

HAEMATOLOGICA, 2007, 93 (01) :34-40

[6] Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis [J].

Schnittger, S. ;

Bacher, U. ;

Haferlach, C. ;

Dengler, R. ;

Kroeber, A. ;

Kern, W. ;

Haferlach, T. .

LEUKEMIA, 2008, 22 (02) :453-455

[7] 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

[8] Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays [J].

Yamamoto, Go ;

Nannya, Yasuhito ;

Kato, Motohiro ;

Sanada, Masashi ;

Levine, Ross L. ;

Kawamata, Norihiko ;

Hangaishi, Akira ;

Kurokawa, Mineo ;

Chiba, Shigeru ;

Gilliland, D. Gary ;

Koeffler, H. Phillip ;

Ogawa, Seishi .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (01) :114-126

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