Literature DB >> 25527566

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

Sabine Jeromin1, Torsten Haferlach1, Sandra Weissmann1, Manja Meggendorfer1, Christiane Eder1, Niroshan Nadarajah1, Tamara Alpermann1, Alexander Kohlmann1, Wolfgang Kern1, Claudia Haferlach1, Susanne Schnittger2.   

Abstract

Entities:  

Keywords:  MDS; MPN; mutation; myeloid; ring sideroblasts; spliceosome

Mesh：

Substances：

Year:  2014        PMID： 25527566      PMCID： PMC4380732          DOI： 10.3324/haematol.2014.119032

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


× No keyword cloud information.
  14 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.  Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis.

Authors:  Johanna Flach; Frank Dicker; Susanne Schnittger; Alexander Kohlmann; Torsten Haferlach; Claudia Haferlach
Journal:  Haematologica       Date:  2009-11-10       Impact factor: 9.941

3.  SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts.

Authors:  V Visconte; H Makishima; A Jankowska; H Szpurka; F Traina; A Jerez; C O'Keefe; H J Rogers; M A Sekeres; J P Maciejewski; R V Tiu
Journal:  Leukemia       Date:  2011-09-02       Impact factor: 11.528

4.  Clinical effect of point mutations in myelodysplastic syndromes.

Authors:  Rafael Bejar; Kristen Stevenson; Omar Abdel-Wahab; Naomi Galili; Björn Nilsson; Guillermo Garcia-Manero; Hagop Kantarjian; Azra Raza; Ross L Levine; Donna Neuberg; Benjamin L Ebert
Journal:  N Engl J Med       Date:  2011-06-30       Impact factor: 91.245

5.  Frequent pathway mutations of splicing machinery in myelodysplasia.

Authors:  Kenichi Yoshida; Masashi Sanada; Yuichi Shiraishi; Daniel Nowak; Yasunobu Nagata; Ryo Yamamoto; Yusuke Sato; Aiko Sato-Otsubo; Ayana Kon; Masao Nagasaki; George Chalkidis; Yutaka Suzuki; Masashi Shiosaka; Ryoichiro Kawahata; Tomoyuki Yamaguchi; Makoto Otsu; Naoshi Obara; Mamiko Sakata-Yanagimoto; Ken Ishiyama; Hiraku Mori; Florian Nolte; Wolf-Karsten Hofmann; Shuichi Miyawaki; Sumio Sugano; Claudia Haferlach; H Phillip Koeffler; Lee-Yung Shih; Torsten Haferlach; Shigeru Chiba; Hiromitsu Nakauchi; Satoru Miyano; Seishi Ogawa
Journal:  Nature       Date:  2011-09-11       Impact factor: 49.962

6.  Somatic mutations of calreticulin in myeloproliferative neoplasms.

Authors:  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 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
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245

7.  Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.

Authors:  J Broséus; T Alpermann; M Wulfert; L Florensa Brichs; S Jeromin; E Lippert; M Rozman; F Lifermann; V Grossmann; T Haferlach; U Germing; E Luño; F Girodon; S Schnittger
Journal:  Leukemia       Date:  2013-04-18       Impact factor: 11.528

8.  Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes.

Authors:  Rafael Bejar; Kristen E Stevenson; Bennett A Caughey; Omar Abdel-Wahab; David P Steensma; Naomi Galili; Azra Raza; Hagop Kantarjian; Ross L Levine; Donna Neuberg; Guillermo Garcia-Manero; Benjamin L Ebert
Journal:  J Clin Oncol       Date:  2012-08-06       Impact factor: 44.544

9.  PRPF8 defects cause missplicing in myeloid malignancies.

Authors:  A Kurtovic-Kozaric; B Przychodzen; J Singh; M M Konarska; M J Clemente; Z K Otrock; M Nakashima; E D Hsi; K Yoshida; Y Shiraishi; K Chiba; H Tanaka; S Miyano; S Ogawa; J Boultwood; H Makishima; J P Maciejewski; R A Padgett
Journal:  Leukemia       Date:  2014-04-30       Impact factor: 11.528

10.  Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

Authors:  J Nangalia; C E Massie; E J Baxter; F L Nice; G Gundem; D C Wedge; E Avezov; J Li; K Kollmann; D G Kent; A Aziz; A L Godfrey; J Hinton; I Martincorena; P Van Loo; A V Jones; P Guglielmelli; P Tarpey; H P Harding; J D Fitzpatrick; C T Goudie; C A Ortmann; S J Loughran; K Raine; D R Jones; A P Butler; J W Teague; S O'Meara; S McLaren; M Bianchi; Y Silber; D Dimitropoulou; D Bloxham; L Mudie; M Maddison; B Robinson; C Keohane; C Maclean; K Hill; K Orchard; S Tauro; M-Q Du; M Greaves; D Bowen; B J P Huntly; C N Harrison; N C P Cross; D Ron; A M Vannucchi; E Papaemmanuil; P J Campbell; A R Green
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245
View more
  25 in total

Review 1.  Mutation-Driven Therapy in MDS.

Authors:  David M Swoboda; David A Sallman
Journal:  Curr Hematol Malig Rep       Date:  2019-12       Impact factor: 3.952

2.  Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes.

Authors:  David P Steensma; Rafael Bejar; Siddhartha Jaiswal; R Coleman Lindsley; Mikkael A Sekeres; Robert P Hasserjian; Benjamin L Ebert
Journal:  Blood       Date:  2015-04-30       Impact factor: 22.113

3.  Acute myeloid leukemias with ring sideroblasts show a unique molecular signature straddling secondary acute myeloid leukemia and de novo acute myeloid leukemia.

Authors:  Pedro Martin-Cabrera; Sabine Jeromin; Karolína Perglerovà; Claudia Haferlach; Wolfgang Kern; Torsten Haferlach
Journal:  Haematologica       Date:  2017-01-05       Impact factor: 9.941

4.  Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis.

Authors:  M M Patnaik; T L Lasho; C M Finke; C A Hanson; R L King; R P Ketterling; N Gangat; A Tefferi
Journal:  Leukemia       Date:  2016-08-01       Impact factor: 11.528

5.  Myelodysplastic syndrome without ring sideroblasts and with Janus kinase 2 gene mutation: An unusual case report.

Authors:  Maria Helena Ornellas; Monique De França Silva; Cristiana Solza; Stella Beatriz Sampaio De Lucena Gonçalves; Liliane Silva De Almeida; Jackline De Paula Ayres-Silva; Taís Leite Seixas; Elenice Ferreira Bastos; Thomas Liehr; Gilda Alves
Journal:  Mol Clin Oncol       Date:  2016-07-01

Review 6.  Nuances of Morphology in Myelodysplastic Diseases in the Age of Molecular Diagnostics.

Authors:  Aaron C Shaver; Adam C Seegmiller
Journal:  Curr Hematol Malig Rep       Date:  2017-10       Impact factor: 3.952

7.  The mutational landscape of 18 investigated genes clearly separates four subtypes of myelodysplastic/myeloproliferative neoplasms.

Authors:  Manja Meggendorfer; Sabine Jeromin; Claudia Haferlach; Wolfgang Kern; Torsten Haferlach
Journal:  Haematologica       Date:  2018-05       Impact factor: 9.941

8.  Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms.

Authors:  Laura Palomo; Manja Meggendorfer; Stephan Hutter; Sven Twardziok; Vera Ademà; Irene Fuhrmann; Francisco Fuster-Tormo; Blanca Xicoy; Lurdes Zamora; Pamela Acha; Cassandra M Kerr; Wolfgang Kern; Jaroslaw P Maciejewski; Francesc Solé; Claudia Haferlach; Torsten Haferlach
Journal:  Blood       Date:  2020-10-15       Impact factor: 22.113

Review 9.  Activin Receptor II Ligand Traps and Their Therapeutic Potential in Myelodysplastic Syndromes with Ring Sideroblasts.

Authors:  Anna Mies; Olivier Hermine; Uwe Platzbecker
Journal:  Curr Hematol Malig Rep       Date:  2016-12       Impact factor: 3.952

Review 10.  An Exercise in Extrapolation: Clinical Management of Atypical CML, MDS/MPN-Unclassifiable, and MDS/MPN-RS-T.

Authors:  Chetasi Talati; Eric Padron
Journal:  Curr Hematol Malig Rep       Date:  2016-12       Impact factor: 3.952
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.