Literature DB >> 22929973

High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms.

Sabine Jeromin1, Torsten Haferlach, Vera Grossmann, Tamara Alpermann, Andreas Kowarsch, Claudia Haferlach, Wolfgang Kern, Susanne Schnittger.   

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Year:  2012        PMID： 22929973      PMCID： PMC3561444          DOI： 10.3324/haematol.2012.072538

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


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  14 in total

1.  Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E.

Authors:  S Schnittger; U Bacher; W Kern; M Schröder; T Haferlach; C Schoch
Journal:  Leukemia       Date:  2006-07-27       Impact factor: 11.528

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.  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.  The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes.

Authors:  David P Steensma; Gordon W Dewald; Terra L Lasho; Heather L Powell; Rebecca F McClure; Ross L Levine; D Gary Gilliland; Ayalew Tefferi
Journal:  Blood       Date:  2005-04-28       Impact factor: 22.113

5.  Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

Authors:  Luca Malcovati; Elli Papaemmanuil; David T Bowen; Jacqueline Boultwood; Matteo G Della Porta; Cristiana Pascutto; Erica Travaglino; Michael J Groves; Anna L Godfrey; Ilaria Ambaglio; Anna Gallì; Matteo C Da Vià; Simona Conte; Sudhir Tauro; Norene Keenan; Ann Hyslop; Jonathan Hinton; Laura J Mudie; James S Wainscoat; P Andrew Futreal; Michael R Stratton; Peter J Campbell; Eva Hellström-Lindberg; Mario Cazzola
Journal:  Blood       Date:  2011-10-12       Impact factor: 22.113

6.  Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.

Authors:  Hideki Makishima; Valeria Visconte; Hirotoshi Sakaguchi; Anna M Jankowska; Sarah Abu Kar; Andres Jerez; Bartlomiej Przychodzen; Manoj Bupathi; Kathryn Guinta; Manuel G Afable; Mikkael A Sekeres; Richard A Padgett; Ramon V Tiu; Jaroslaw P Maciejewski
Journal:  Blood       Date:  2012-02-09       Impact factor: 22.113

7.  Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis.

Authors:  S Schnittger; U Bacher; C Haferlach; R Dengler; A Kröber; W Kern; T Haferlach
Journal:  Leukemia       Date:  2007-08-16       Impact factor: 11.528

8.  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

Review 9.  Is refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category?

Authors:  Douglas Wardrop; David P Steensma
Journal:  Br J Haematol       Date:  2008-12-11       Impact factor: 6.998

10.  Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Authors:  Susanne Schnittger; Ulrike Bacher; Claudia Haferlach; Thomas Geer; Peter Müller; Johann Mittermüller; Petro Petrides; Rudolf Schlag; Reiner Sandner; Johannes Selbach; Hans Rainer Slawik; Hans Werner Tessen; Jürgen Wehmeyer; Wolfgang Kern; Torsten Haferlach
Journal:  Haematologica       Date:  2009-03       Impact factor: 9.941
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  20 in total

1.  Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase.

Authors:  Mandy Brecqueville; Jérôme Rey; Raynier Devillier; Arnaud Guille; Rémi Gillet; José Adélaide; Véronique Gelsi-Boyer; Christine Arnoulet; Max Chaffanet; Marie-Joelle Mozziconacci; Norbert Vey; Daniel Birnbaum; Anne Murati
Journal:  Haematologica       Date:  2013-08-30       Impact factor: 9.941

2.  SF3B1 mutations correlated to cytogenetics and mutations in NOTCH1, FBXW7, MYD88, XPO1 and TP53 in 1160 untreated CLL patients.

Authors:  S Jeromin; S Weissmann; C Haferlach; F Dicker; K Bayer; V Grossmann; T Alpermann; A Roller; A Kohlmann; T Haferlach; W Kern; S Schnittger
Journal:  Leukemia       Date:  2013-09-12       Impact factor: 11.528

3.  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

Review 4.  Splicing factor mutations in myelodysplasia.

Authors:  Seishi Ogawa
Journal:  Int J Hematol       Date:  2012-10-05       Impact factor: 2.490

Review 5.  Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms.

Authors:  Mario Cazzola; Marianna Rossi; Luca Malcovati
Journal:  Blood       Date:  2012-11-16       Impact factor: 22.113

6.  EVI1-rearranged acute myeloid leukemias are characterized by distinct molecular alterations.

Authors:  Vincent-Philippe Lavallée; Patrick Gendron; Sébastien Lemieux; Giovanni D'Angelo; Josée Hébert; Guy Sauvageau
Journal:  Blood       Date:  2014-10-20       Impact factor: 22.113

7.  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 8.  Splicing factor mutations in MDS RARS and MDS/MPN-RS-T.

Authors:  Akihide Yoshimi; Omar Abdel-Wahab
Journal:  Int J Hematol       Date:  2017-05-02       Impact factor: 2.490

9.  The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.

Authors:  Maryam Nikpour; Christian Scharenberg; Anquan Liu; Simona Conte; Mohsen Karimi; Teresa Mortera-Blanco; Valentina Giai; Marta Fernandez-Mercado; Elli Papaemmanuil; Kari Högstrand; Monika Jansson; Inger Vedin; James Stephen Wainscoat; Peter Campbell; Mario Cazzola; Jacqueline Boultwood; Alf Grandien; Eva Hellström-Lindberg
Journal:  Leukemia       Date:  2012-10-16       Impact factor: 11.528

Review 10.  The spliceosome as a target of novel antitumour drugs.

Authors:  Sophie Bonnal; Luisa Vigevani; Juan Valcárcel
Journal:  Nat Rev Drug Discov       Date:  2012-11       Impact factor: 84.694
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