Somatic SETBP1 mutations in myeloid malignancies
Hideki Makishima,Kenichi Yoshida,Nhu Nguyen,Bartlomiej P Przychodzen,Masashi Sanada,Masashi Sanada,Yusuke Okuno,Yusuke Okuno,Kwok Peng Ng,Kristbjorn O. Gudmundsson,Bandana A. Vishwakarma,Andres Jerez,Inés Gómez-Seguí,Mariko Takahashi,Yuichi Shiraishi,Yasunobu Nagata,Kathryn M Guinta,Hiraku Mori,Mikkael A. Sekeres,Kenichi Chiba,Hiroko Tanaka,Hideki Muramatsu,Hirotoshi Sakaguchi,Ronald Paquette,Michael A. McDevitt,Seiji Kojima,Yogen Saunthararajah,Satoru Miyano,Lee-Yung Shih,Yang Du,Seishi Ogawa,Seishi Ogawa,Jaroslaw P. Maciejewski +32 more
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TLDR
Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML.Abstract:
Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations in SETBP1, consistent with a recent report on atypical chronic myeloid leukemia (aCML). Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases. These results from deep sequencing demonstrate a higher mutational detection rate than reported with conventional sequencing methodology. Mutant cases were associated with advanced age and monosomy 7/deletion 7q (-7/del(7q)) constituting poor prognostic factors. Analysis of serially collected samples indicated that SETBP1 mutations were acquired during leukemic evolution. Transduction with mutant Setbp1 led to the immortalization of mouse myeloid progenitors that showed enhanced proliferative capacity compared to cells transduced with wild-type Setbp1. Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML.read more
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References
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Journal ArticleDOI
Integrative genomics viewer
James T. Robinson,Helga Thorvaldsdottir,Wendy Winckler,Mitchell Guttman,Eric S. Lander,Eric S. Lander,Gad Getz,Jill P. Mesirov +7 more
TL;DR: In this article, the authors present an approach for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data.
Journal Article
An international system for human cytogenetic nomenclature
TL;DR: An exceptional reading e-book entitled International System For Human Cytogenetic Nomenclature provides a thorough legal analysis and guidance to state authorities, human rights and humanitarian actors and others.
Journal ArticleDOI
International Scoring System for Evaluating Prognosis in Myelodysplastic Syndromes
Peter L. Greenberg,Christopher Cox,Michelle M. LeBeau,Pierre Fenaux,Pierre Morel,Guillermo Sanz,Miguel A. Sanz,Teresa Vallespi,Terry J. Hamblin,David Oscier,Kazuma Ohyashiki,Keisuke Toyama,Carlo Aul,Ghulam J. Mufti,John M. Bennett +14 more
TL;DR: The International MDS Risk Analysis Workshop combined cytogenetic, morphological, and clinical data from seven large previously reported risk-based studies that had generated prognostic systems as discussed by the authors.
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.
Journal ArticleDOI
Recurring mutations found by sequencing an acute myeloid leukemia genome.
Elaine R. Mardis,Li Ding,David J. Dooling,David E. Larson,Michael D. McLellan,Ken Chen,Daniel C. Koboldt,Robert S. Fulton,Kim D. Delehaunty,Sean McGrath,Lucinda Fulton,Devin P. Locke,Vincent Magrini,Rachel Abbott,Tammi L. Vickery,Jerry S. Reed,Jody S. Robinson,Todd Wylie,Scott M. Smith,Lynn K. Carmichael,James M. Eldred,Chris Harris,Jason Walker,Joshua Peck,Feiyu Du,Adam F. Dukes,Gabriel E. Sanderson,Anthony M. Brummett,Eric M. Clark,Joshua F. McMichael,Rick Meyer,Jonathan K. Schindler,Craig Pohl,John W. Wallis,Xiaoqi Shi,Ling Lin,Heather Schmidt,Yuzhu Tang,Carrie A. Haipek,Madeline E. Wiechert,Jolynda V. Ivy,Joelle Kalicki,Glendoria Elliott,Rhonda E. Ries,Jacqueline E. Payton,Peter Westervelt,Michael H. Tomasson,Mark A. Watson,Jack Baty,Sharon Heath,William D. Shannon,Rakesh Nagarajan,Daniel C. Link,Matthew J. Walter,Timothy A. Graubert,John F. DiPersio,Richard K. Wilson,Timothy J. Ley +57 more
TL;DR: By comparing the sequences of tumor and skin genomes of a patient with AML-M1, recurring mutations that may be relevant for pathogenesis are identified.
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