Journal ArticleDOI
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
Francis H. Grand,Claire Hidalgo-Curtis,Thomas Ernst,Katerina Zoi,Christine Zoi,Carolann McGuire,Sebastian Kreil,Amy V. Jones,Joannah Score,Georgia Metzgeroth,David Oscier,Andrew J. Hall,Christian Brandts,Hubert Serve,Andreas Reiter,Andrew Chase,Nicholas C.P. Cross +16 more
TLDR
It is concluded that acquired, transforming CBL mutations are a novel and widespread pathogenetic abnormality in morphologically related, clinically aggressive MPNs.About:
This article is published in Blood.The article was published on 2008-11-16. It has received 376 citations till now. The article focuses on the topics: Atypical chronic myeloid leukemia & Uniparental disomy.read more
Citations
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Journal ArticleDOI
Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms
Thorsten Klampfl,Heinz Gisslinger,Ashot S. Harutyunyan,Harini Nivarthi,Elisa Rumi,Jelena D. Milosevic,Nicole C.C. Them,Tiina Berg,Bettina Gisslinger,Daniela Pietra,Doris Chen,Gregory I. Vladimer,Klaudia Bagienski,Chiara Milanesi,Ilaria Carola Casetti,Emanuela Sant'Antonio,Virginia Valeria Ferretti,Chiara Elena,Fiorella Schischlik,Ciara Cleary,Melanie Six,Martin Schalling,Andreas Schönegger,Christoph Bock,Luca Malcovati,Cristiana Pascutto,Giulio Superti-Furga,Mario Cazzola,Robert Kralovics +28 more
TL;DR: Most patients with essential thrombocythemia or primary myelofibrosis that was not associated with a JAK2 or MPL alteration carried a somatic mutation in CALR, and patients with mutated CALR had a lower risk ofThrombosis and longer overall survival than patients with mutations in J AK2.
Journal ArticleDOI
Clinical and biological implications of driver mutations in myelodysplastic syndromes.
Elli Papaemmanuil,Moritz Gerstung,Luca Malcovati,Sudhir Tauro,Gunes Gundem,Peter Van Loo,Peter Van Loo,Peter Van Loo,Chris J. Yoon,Peter R. Ellis,David C. Wedge,Andrea Pellagatti,Adam Shlien,Michael J. Groves,Simon A. Forbes,Keiran Raine,Jon Hinton,Laura Mudie,Stuart McLaren,Claire Hardy,Calli Latimer,Matteo G. Della Porta,Sarah O’Meara,Ilaria Ambaglio,Anna Gallì,Adam Butler,Gunilla Walldin,Jon W. Teague,Lynn Quek,Alex Sternberg,Alex Sternberg,Carlo Gambacorti-Passerini,Nicholas C.P. Cross,Anthony R. Green,Jacqueline Boultwood,Paresh Vyas,Eva Hellström-Lindberg,David G. Bowen,Mario Cazzola,Michael R. Stratton,Peter J. Campbell,Peter J. Campbell +41 more
TL;DR: Analysis of oncogenic mutations in large, well-characterized cohorts of patients illustrates the interconnections between the cancer genome and disease biology, with considerable potential for clinical application.
Journal ArticleDOI
Clinical effect of point mutations in myelodysplastic syndromes.
Rafael Bejar,Kristen E. Stevenson,Omar Abdel-Wahab,Naomi Galili,Björn Nilsson,Guillermo Garcia-Manero,Hagop M. Kantarjian,Azra Raza,Ross L. Levine,Donna Neuberg,Benjamin L. Ebert +10 more
TL;DR: Mutations in TP53, EZH2, ETV6, RUNX1, and ASXL1 are predictors of poor overall survival in patients with myelodysplastic syndromes, independently of established risk factors.
Journal ArticleDOI
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Elli Papaemmanuil,Mario Cazzola,Jacqueline Boultwood,Luca Malcovati,Paresh Vyas,David T. Bowen,Andrea Pellagatti,J. S. Wainscoat,Eva Hellström-Lindberg,Carlo Gambacorti-Passerini,Anna L. Godfrey,I. Rapado,Ana Cvejic,Ana Cvejic,Richard Rance,C. McGee,Peter R. Ellis,Laura Mudie,Phil Stephens,Stuart McLaren,Charles E. Massie,Patrick S. Tarpey,Ignacio Varela,Serena Nik-Zainal,Helen Davies,Adam Shlien,David T. Jones,Keiran Raine,Jonathon Hinton,Adam Butler,Jon W. Teague,E J Baxter,Joannah Score,Anna Gallì,M.G. Della Porta,Erica Travaglino,Michael J. Groves,Sudhir Tauro,Nikhil C. Munshi,Nikhil C. Munshi,KC Anderson,Adel K. El-Naggar,Andrej Fischer,Andrej Fischer,Ville Mustonen,Alan J. Warren,Nicholas C.P. Cross,Anthony R. Green,P A Futreal,Michael R. Stratton,Peter J. Campbell,Peter J. Campbell +51 more
TL;DR: Mutations in SF3B1 implicate abnormalities of messenger RNA splicing in the pathogenesis of myelodysplastic syndromes and were associated with down-regulation of key gene networks, including core mitochondrial pathways.
Journal ArticleDOI
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
Thomas Ernst,Andrew Chase,Andrew Chase,Joannah Score,Joannah Score,Claire Hidalgo-Curtis,Claire Hidalgo-Curtis,Catherine Bryant,Catherine Bryant,Amy V. Jones,Amy V. Jones,Katherine Waghorn,Katherine Waghorn,Katerina Zoi,Fiona M. Ross,Fiona M. Ross,Andreas Reiter,Andreas Hochhaus,Hans G. Drexler,Andrew S Duncombe,Francisco Cervantes,David Oscier,Jacqueline Boultwood,Francis H. Grand,Francis H. Grand,Nicholas C.P. Cross,Nicholas C.P. Cross +26 more
TL;DR: In this article, the finding of homozygous EZH2 mutations in 9 of 12 individuals with 7q acquired uniparental disomy was described, and the mutations resulted in premature chain termination or direct abrogation of histone methyltransferase activity.
References
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Journal ArticleDOI
Mutations of the BRAF gene in human cancer
Helen Davies,Graham R. Bignell,Charles Cox,Philip J. Stephens,Sarah Edkins,S. M. Clegg,Jon W. Teague,Hayley Woffendin,Mathew J. Garnett,William Bottomley,Neil Davis,Ed Dicks,Rebecca Ewing,Yvonne Floyd,Kristian Gray,S. Hall,Rachel Hawes,Jaime Hughes,Vivian Kosmidou,Andrew Menzies,Catherine Mould,Adrian Parker,Claire Stevens,Stephen Watt,Steven Hooper,Rebecca Wilson,Hiran Jayatilake,Barry A. Gusterson,Colin Cooper,Janet Shipley,Darren Hargrave,Kathy Pritchard-Jones,Norman J. Maitland,Georgia Chenevix-Trench,Gregory J. Riggins,Darell D. Bigner,Giuseppe Palmieri,Antonio Cossu,Adrienne M. Flanagan,Andrew G. Nicholson,Judy W. C. Ho,Suet Yi Leung,Siu Tsan Yuen,Barbara L. Weber,Hilliard F. Seigler,Timothy L. Darrow,Hugh Paterson,Richard Marais,Christopher J. Marshall,Richard Wooster,Michael R. Stratton,P. Andrew Futreal +51 more
TL;DR: BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers, with a single substitution (V599E) accounting for 80%.
Journal ArticleDOI
A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
Robert Kralovics,Francesco Passamonti,Andreas Buser,Soon Siong Teo,Ralph Tiedt,Jakob Passweg,André Tichelli,Mario Cazzola,Radek C. Skoda +8 more
TL;DR: Genetic evidence and in vitro functional studies indicate that V617F gives hematopoietic precursors proliferative and survival advantages and a high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
Journal ArticleDOI
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
E. Joanna Baxter,Linda M. Scott,Peter J. Campbell,Clare L. East,Nasios Fourouclas,Soheila Swanton,George S. Vassiliou,Anthony J. Bench,Elaine M. Boyd,Natasha Curtin,Michael A. Scott,Wendy N. Erber,Anthony R. Green,Anthony R. Green +13 more
TL;DR: A single acquired mutation of JAK2 was noted in more than half of patients with a myeloproliferative disorder and its presence in all erythropoietin-independent erythroid colonies demonstrates a link with growth factor hypersensitivity, a key biological feature of these disorders.
Journal ArticleDOI
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
Chloé James,Valérie Ugo,Jean-Pierre Le Couedic,Judith Staerk,François Delhommeau,Catherine Lacout,Loïc Garçon,Hana Raslova,Roland Berger,Annelise Bennaceur-Griscelli,Jean-Luc Villeval,Stefan N. Constantinescu,Nicole Casadevall,William Vainchenker +13 more
TL;DR: A clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2) gene in most (> 80%) polycythaemia vera patients leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity and induces erythrocytosis in a mouse model.
Journal ArticleDOI
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
Ross L. Levine,Ross L. Levine,Martha Wadleigh,Jan Cools,Benjamin L. Ebert,Benjamin L. Ebert,Gerlinde Wernig,Brian J. P. Huntly,Titus J. Boggon,Iwona Wlodarska,Jennifer J. Clark,Sandra A. Moore,Jennifer Adelsperger,Sumin Koo,Jeffrey C. Lee,Stacey Gabriel,Thomas Mercher,Alan D. D'Andrea,Stefan Fröhling,Konstanze Döhner,Peter Marynen,Peter Vandenberghe,Ruben A. Mesa,Ayalew Tefferi,James D. Griffin,Michael J. Eck,William R. Sellers,William R. Sellers,Matthew Meyerson,Matthew Meyerson,Todd R. Golub,Todd R. Golub,Todd R. Golub,Stephanie J. Lee,D. Gary Gilliland,D. Gary Gilliland,D. Gary Gilliland +36 more
TL;DR: High-throughput DNA resequencing identified a recurrent somatic missense mutation JAK2V617F in granulocyte DNA samples of 121 of 164 PV patients, of which 41 had homozygous and 80 had heterozygous mutations.
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