Adult-onset systemic mastocytosis in monozygotic twins with KIT D816V and JAK2 V617F mutations

被引:22
作者
Broesby-Olsen, Sigurd [1 ,2 ]
Kristensen, Thomas Kielsgaard [3 ]
Moller, Michael Boe [3 ]
Bindslev-Jensen, Carsten [1 ,2 ]
Vestergaard, Hanne [4 ]
机构
[1] Odense Univ Hosp, Dept Dermatol, DK-5000 Odense, Denmark
[2] Odense Univ Hosp, Allergy Ctr, DK-5000 Odense, Denmark
[3] Odense Univ Hosp, Dept Pathol, DK-5000 Odense, Denmark
[4] Odense Univ Hosp, Dept Hematol, DK-5000 Odense, Denmark
关键词
CUTANEOUS MASTOCYTOSIS;
D O I
10.1016/j.jaci.2012.04.013
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
[No abstract available]
引用
收藏
页码:806 / 808
页数:3
相关论文
共 9 条
[1]   Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations [J].
Bodemer, Christine ;
Hermine, Olivier ;
Palmerini, Fabienne ;
Yang, Ying ;
Grandpeix-Guyodo, Catherine ;
Leventhal, Phillip S. ;
Hadj-Rabia, Smail ;
Nasca, Laurent ;
Georgin-Lavialle, Sophie ;
Cohen-Akenine, Annick ;
Launay, Jean-Marie ;
Barete, Stephane ;
Feger, Frederic ;
Arock, Michel ;
Catteau, Benoit ;
Sans, Beatrix ;
Stalder, Jean Francois ;
Skowron, Francois ;
Thomas, Luc ;
Lorette, Gerard ;
Plantin, Patrice ;
Bordigoni, Pierre ;
Lortholary, Olivier ;
de Prost, Yves ;
Moussy, Alain ;
Sobol, Hagay ;
Dubreuil, Patrice .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (03) :804-815
[2]   CUTANEOUS MASTOCYTOSIS IN TWINS: MULTIPLE MASTOCYTOMAS AND URTICARIA PIGMENTOSA IN TWO PAIRS OF MONOZYGOTIC TWINS [J].
de la Sotta, Pilar ;
Romero, William A. ;
Kramer, Daniela ;
Cardenas, Consuelo ;
Gonzalez, Sergio .
PEDIATRIC DERMATOLOGY, 2011, 28 (05) :585-587
[3]   Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay [J].
Kristensen, Thomas ;
Vestergaard, Hanne ;
Moller, Michael Boe .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2011, 13 (02) :180-188
[4]   Mast cells and mastocytosis [J].
Metcalfe, Dean D. .
BLOOD, 2008, 112 (04) :946-956
[5]   Adult-onset cutaneous mastocytosis in monozygotic twins [J].
Quaglino, Pietro ;
Mola, Federica ;
Peroni, Anna ;
Ortoncelli, Michela ;
Di Bello, Cristiana ;
Savoia, Paola ;
Bernengo, Maria Grazia .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2011, 65 (03) :680-681
[6]   Hereditary myeloproliferative disorders [J].
Skoda, Radek C. .
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 (01) :6-8
[7]   Systemic mastocytosis associated with chronic idiopathic myelofibrosis -: A distinct subtype of systemic mastocytosis-associated clonal hematological nonmast cell lineage disorder carrying the activating point mutations KITD816V and JAK2V61'7F [J].
Sotlar, Karl ;
Bache, Anja ;
Stellmacher, Florian ;
Bueltmann, Burkhard ;
Valent, Peter ;
Horny, Hans-Peter .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2008, 10 (01) :58-66
[8]  
Thachil Jecko, 2011, Br J Haematol, V152, P675, DOI 10.1111/j.1365-2141.2010.08536.x
[9]   Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis [J].
Wasag, Bartosz ;
Niedoszytko, Marek ;
Piskorz, Anna ;
Lange, Magdalena ;
Renke, Joanna ;
Jassem, Ewa ;
Biernat, Wojciech ;
Debiec-Rychter, Maria ;
Limon, Janusz .
EXPERIMENTAL HEMATOLOGY, 2011, 39 (08) :859-865