Literature DB >> 19903679

Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis.

Johanna Flach, Frank Dicker, Susanne Schnittger, Alexander Kohlmann, Torsten Haferlach, Claudia Haferlach.   

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Year:  2009        PMID： 19903679      PMCID： PMC2833086          DOI： 10.3324/haematol.2009.013631

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  11 in total

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

Authors:  H Szpurka; L P Gondek; S R Mohan; E D Hsi; K S Theil; J P Maciejewski
Journal:  Leukemia       Date:  2008-09-25       Impact factor: 11.528

2.  Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation.

Authors:  Hadrian Szpurka; Ramon Tiu; Gurunathan Murugesan; Samer Aboudola; Eric D Hsi; Karl S Theil; Mikkael A Sekeres; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2006-06-01       Impact factor: 22.113

3.  Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML.

Authors:  A Tefferi; K-H Lim; O Abdel-Wahab; T L Lasho; J Patel; M M Patnaik; C A Hanson; A Pardanani; D G Gilliland; R L Levine
Journal:  Leukemia       Date:  2009-03-19       Impact factor: 11.528

4.  JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Authors:  Annette H Schmitt-Graeff; Soon-Siong Teo; Manfred Olschewski; Franz Schaub; Sabine Haxelmans; Andreas Kirn; Petra Reinecke; Ulrich Germing; Radek C Skoda
Journal:  Haematologica       Date:  2008-01       Impact factor: 9.941

5.  Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Authors:  Luca Malcovati; Matteo G Della Porta; Daniela Pietra; Emanuela Boveri; Andrea Pellagatti; Anna Gallì; Erica Travaglino; Angela Brisci; Elisa Rumi; Francesco Passamonti; Rosangela Invernizzi; Laura Cremonesi; Jacqueline Boultwood; James S Wainscoat; Eva Hellström-Lindberg; Mario Cazzola
Journal:  Blood       Date:  2009-08-19       Impact factor: 22.113

6.  Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.

Authors:  Francis H Grand; Claire E Hidalgo-Curtis; Thomas Ernst; Katerina Zoi; Christine Zoi; Carolann McGuire; Sebastian Kreil; Amy Jones; Joannah Score; Georgia Metzgeroth; David Oscier; Andrew Hall; Christian Brandts; Hubert Serve; Andreas Reiter; Andrew J Chase; Nicholas C P Cross
Journal:  Blood       Date:  2009-04-22       Impact factor: 22.113

7.  Acquired mutations in TET2 are common in myelodysplastic syndromes.

Authors:  Saskia M C Langemeijer; Roland P Kuiper; Marieke Berends; Ruth Knops; Mariam G Aslanyan; Marion Massop; Ellen Stevens-Linders; Patricia van Hoogen; Ad Geurts van Kessel; Reinier A P Raymakers; Eveline J Kamping; Gregor E Verhoef; Estelle Verburgh; Anne Hagemeijer; Peter Vandenberghe; Theo de Witte; Bert A van der Reijden; Joop H Jansen
Journal:  Nat Genet       Date:  2009-05-31       Impact factor: 38.330

8.  Mutation in TET2 in myeloid cancers.

Authors:  François Delhommeau; Sabrina Dupont; Véronique Della Valle; Chloé James; Severine Trannoy; Aline Massé; Olivier Kosmider; Jean-Pierre Le Couedic; Fabienne Robert; Antonio Alberdi; Yann Lécluse; Isabelle Plo; François J Dreyfus; Christophe Marzac; Nicole Casadevall; Catherine Lacombe; Serge P Romana; Philippe Dessen; Jean Soulier; Franck Viguié; Michaela Fontenay; William Vainchenker; Olivier A Bernard
Journal:  N Engl J Med       Date:  2009-05-28       Impact factor: 91.245

9.  TET2 mutations in myelodysplasia and myeloid malignancies.

Authors:  Charles G Mullighan
Journal:  Nat Genet       Date:  2009-07       Impact factor: 38.330

10.  Novel TET2 mutations associated with UPD4q24 in myelodysplastic syndrome.

Authors:  Azim M Mohamedali; Alexander E Smith; Joop Gaken; Nicholas C Lea; Syed A Mian; Nigel B Westwood; Corinna Strupp; Norbert Gattermann; Ulrich Germing; Ghulam J Mufti
Journal:  J Clin Oncol       Date:  2009-06-15       Impact factor: 44.544
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  13 in total

1.  Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.

Authors:  Hadrian Szpurka; Anna M Jankowska; Hideki Makishima; Juraj Bodo; Nelli Bejanyan; Eric D Hsi; Mikkael A Sekeres; Jaroslaw P Maciejewski
Journal:  Leuk Res       Date:  2010-03-23       Impact factor: 3.156

2.  Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis.

Authors:  Julien Broseus; Lourdes Florensa; Esther Zipperer; Susanne Schnittger; Luca Malcovati; Steven Richebourg; Eric Lippert; Jaroslav Cermak; Jyoti Evans; Morgane Mounier; José Maria Raya; François Bailly; Norbert Gattermann; Torsten Haferlach; Richard Garand; Kaoutar Allou; Carlos Besses; Ulrich Germing; Claudia Haferlach; Erica Travaglino; Elisa Luno; Maria Angeles Pinan; Leonor Arenillas; Maria Rozman; Maria Luz Perez Sirvent; Bernardine Favre; Julien Guy; Esther Alonso; Nuhri Ahwij; Andrés Jerez; Sylvie Hermouet; Marc Maynadié; Mario Cazzola; François Girodon
Journal:  Haematologica       Date:  2012-04-24       Impact factor: 9.941

3.  Molecular basis of myelodysplastic/myeloproliferative neoplasms.

Authors:  Andreas Reiter; Rosangela Invernizzi; Nicholas C P Cross; Mario Cazzola
Journal:  Haematologica       Date:  2009-12       Impact factor: 9.941

4.  Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations.

Authors:  Sabine Jeromin; Torsten Haferlach; Sandra Weissmann; Manja Meggendorfer; Christiane Eder; Niroshan Nadarajah; Tamara Alpermann; Alexander Kohlmann; Wolfgang Kern; Claudia Haferlach; Susanne Schnittger
Journal:  Haematologica       Date:  2014-12-19       Impact factor: 9.941

5.  Inhibition of TET2-mediated conversion of 5-methylcytosine to 5-hydroxymethylcytosine disturbs erythroid and granulomonocytic differentiation of human hematopoietic progenitors.

Authors:  Elodie Pronier; Carole Almire; Hayat Mokrani; Aparna Vasanthakumar; Audrey Simon; Barbara da Costa Reis Monte Mor; Aline Massé; Jean-Pierre Le Couédic; Frédéric Pendino; Bruno Carbonne; Jérôme Larghero; Jean-Luc Ravanat; Nicole Casadevall; Olivier A Bernard; Nathalie Droin; Eric Solary; Lucy A Godley; William Vainchenker; Isabelle Plo; François Delhommeau
Journal:  Blood       Date:  2011-07-06       Impact factor: 22.113

6.  Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.

Authors:  Susanne Schnittger; Ulrike Bacher; Tamara Alpermann; Andreas Reiter; Madlen Ulke; Frank Dicker; Christiane Eder; Alexander Kohlmann; Vera Grossmann; Andreas Kowarsch; Wolfgang Kern; Claudia Haferlach; Torsten Haferlach
Journal:  Haematologica       Date:  2012-06-24       Impact factor: 9.941

Review 7.  Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease.

Authors:  Emmanuel Peprah; Huichun Xu; Fasil Tekola-Ayele; Charmaine D Royal
Journal:  Public Health Genomics       Date:  2014-11-26       Impact factor: 2.000

Review 8.  The Ten-Eleven Translocation-2 (TET2) gene in hematopoiesis and hematopoietic diseases.

Authors:  E Solary; O A Bernard; A Tefferi; F Fuks; W Vainchenker
Journal:  Leukemia       Date:  2013-11-13       Impact factor: 11.528

9.  Refractory anemia with ring sideroblasts associated with marked thrombocytosis complicated by massive splenomegaly treated with lenalidomide resulting in resolution of splenomegaly but severe and prolonged pancytopenia.

Authors:  Gordon Taylor; Dominic Culligan; Mark A Vickers
Journal:  Case Rep Hematol       Date:  2013-04-07

Review 10.  Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.

Authors:  A Tefferi
Journal:  Leukemia       Date:  2010-04-29       Impact factor: 11.528
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