作者
Jyoti Nangalia, Charles E Massie, E Joanna Baxter, Francesca L Nice, Gunes Gundem, David C Wedge, Edward Avezov, Juan Li, Karoline Kollmann, David G Kent, Athar Aziz, Anna L Godfrey, Jonathan Hinton, Inigo Martincorena, Peter Van Loo, Amy V Jones, Paola Guglielmelli, Patrick Tarpey, Heather P Harding, John D Fitzpatrick, Calum T Goudie, Christina A Ortmann, Stephen J Loughran, Keiran Raine, David R Jones, Adam P Butler, Jon W Teague, Sarah O'Meara, Stuart McLaren, Michele Bianchi, Yvonne Silber, Danai Dimitropoulou, David Bloxham, Laura Mudie, Mark Maddison, Ben Robinson, Clodagh Keohane, Cathy Maclean, Kate Hill, Kim Orchard, Sudhir Tauro, M-Q Du, Mel Greaves, David Bowen, Brian JP Huntly, Claire N Harrison, Nicholas CP Cross, David Ron, Alessandro M Vannucchi, Elli Papaemmanuil, Peter J Campbell, Anthony R Green
发表日期
2013/12/19
期刊
New England Journal of Medicine
卷号
369
期号
25
页码范围
2391-2405
出版商
Massachusetts Medical Society
简介
Background
Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge.
Methods
We performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. We established phylogenetic trees using hematopoietic colonies. We assessed calreticulin subcellular localization using immunofluorescence and flow cytometry.
Results
Exome sequencing identified 1498 mutations in 151 patients, with medians of 6.5, 6.5, and 13.0 mutations per patient in samples of polycythemia vera, essential thrombocythemia, and myelofibrosis …
学术搜索中的文章
J Nangalia, CE Massie, EJ Baxter, FL Nice, G Gundem… - New England Journal of Medicine, 2013
