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Literature DB >> 32211880

The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing.

W Brian Dalton¹, Eric Helmenstine¹, Lisa Pieterse², Bing Li^3,4, Christopher D Gocke⁵, Joshua Donaldson⁶, Zhijian Xiao^3,4, Lukasz P Gondek¹, Gabriel Ghiaur¹, Ivana Gojo¹, B Douglas Smith¹, Mark J Levis¹, Amy E DeZern¹.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
RNA Splicing Factors

Year: 2020 PMID： 32211880 PMCID： PMC7160262 DOI： 10.1182/bloodadvances.2019001127

Source DB: PubMed Journal: Blood Adv ISSN： 2473-9529

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15 in total

1. Genomic Classification and Prognosis in Acute Myeloid Leukemia.

Authors: Elli Papaemmanuil; Moritz Gerstung; Hartmut Döhner; Peter J Campbell; Lars Bullinger; Verena I Gaidzik; Peter Paschka; Nicola D Roberts; Nicola E Potter; Michael Heuser; Felicitas Thol; Niccolo Bolli; Gunes Gundem; Peter Van Loo; Inigo Martincorena; Peter Ganly; Laura Mudie; Stuart McLaren; Sarah O'Meara; Keiran Raine; David R Jones; Jon W Teague; Adam P Butler; Mel F Greaves; Arnold Ganser; Konstanze Döhner; Richard F Schlenk
Journal: N Engl J Med Date: 2016-06-09 Impact factor: 91.245

2. Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes.

Authors: Frederik Damm; Olivier Kosmider; Véronique Gelsi-Boyer; Aline Renneville; Nadine Carbuccia; Claire Hidalgo-Curtis; Véronique Della Valle; Lucile Couronné; Laurianne Scourzic; Virginie Chesnais; Agnes Guerci-Bresler; Bohrane Slama; Odile Beyne-Rauzy; Aline Schmidt-Tanguy; Aspasia Stamatoullas-Bastard; François Dreyfus; Thomas Prébet; Stéphane de Botton; Norbert Vey; Michael A Morgan; Nicholas C P Cross; Claude Preudhomme; Daniel Birnbaum; Olivier A Bernard; Michaela Fontenay
Journal: Blood Date: 2012-02-17 Impact factor: 22.113

3. 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

4. Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations.

Authors: Constantin Cretu; Jana Schmitzová; Almudena Ponce-Salvatierra; Olexandr Dybkov; Evelina I De Laurentiis; Kundan Sharma; Cindy L Will; Henning Urlaub; Reinhard Lührmann; Vladimir Pena
Journal: Mol Cell Date: 2016-10-06 Impact factor: 17.970

5. SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value.

Authors: Mrinal M Patnaik; Terra L Lasho; Janice M Hodnefield; Ryan A Knudson; Rhett P Ketterling; Guillermo Garcia-Manero; David P Steensma; Animesh Pardanani; Curtis A Hanson; Ayalew Tefferi
Journal: Blood Date: 2011-11-17 Impact factor: 22.113

6. Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point.

Authors: Rachel B Darman; Michael Seiler; Anant A Agrawal; Kian H Lim; Shouyong Peng; Daniel Aird; Suzanna L Bailey; Erica B Bhavsar; Betty Chan; Simona Colla; Laura Corson; Jacob Feala; Peter Fekkes; Kana Ichikawa; Gregg F Keaney; Linda Lee; Pavan Kumar; Kaiko Kunii; Crystal MacKenzie; Mark Matijevic; Yoshiharu Mizui; Khin Myint; Eun Sun Park; Xiaoling Puyang; Anand Selvaraj; Michael P Thomas; Jennifer Tsai; John Y Wang; Markus Warmuth; Hui Yang; Ping Zhu; Guillermo Garcia-Manero; Richard R Furman; Lihua Yu; Peter G Smith; Silvia Buonamici
Journal: Cell Rep Date: 2015-10-22 Impact factor: 9.423

7. Spectrum and prognostic relevance of driver gene mutations in acute myeloid leukemia.

Authors: Klaus H Metzeler; Tobias Herold; Maja Rothenberg-Thurley; Susanne Amler; Maria C Sauerland; Dennis Görlich; Stephanie Schneider; Nikola P Konstandin; Annika Dufour; Kathrin Bräundl; Bianka Ksienzyk; Evelyn Zellmeier; Luise Hartmann; Philipp A Greif; Michael Fiegl; Marion Subklewe; Stefan K Bohlander; Utz Krug; Andreas Faldum; Wolfgang E Berdel; Bernhard Wörmann; Thomas Büchner; Wolfgang Hiddemann; Jan Braess; Karsten Spiekermann
Journal: Blood Date: 2016-06-10 Impact factor: 22.113

8. AACR Project GENIE: Powering Precision Medicine through an International Consortium.

Authors:
Journal: Cancer Discov Date: 2017-06-01 Impact factor: 39.397

9. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Authors: E Papaemmanuil; M Cazzola; J Boultwood; L Malcovati; P Vyas; D Bowen; A Pellagatti; J S Wainscoat; E Hellstrom-Lindberg; C Gambacorti-Passerini; A L Godfrey; I Rapado; A Cvejic; R Rance; C McGee; P Ellis; L J Mudie; P J Stephens; S McLaren; C E Massie; P S Tarpey; I Varela; S Nik-Zainal; H R Davies; A Shlien; D Jones; K Raine; J Hinton; A P Butler; J W Teague; E J Baxter; J Score; A Galli; M G Della Porta; E Travaglino; M Groves; S Tauro; N C Munshi; K C Anderson; A El-Naggar; A Fischer; V Mustonen; A J Warren; N C P Cross; A R Green; P A Futreal; M R Stratton; P J Campbell
Journal: N Engl J Med Date: 2011-09-26 Impact factor: 91.245

10. Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage.

Authors: Samar Alsafadi; Alexandre Houy; Aude Battistella; Tatiana Popova; Michel Wassef; Emilie Henry; Franck Tirode; Angelos Constantinou; Sophie Piperno-Neumann; Sergio Roman-Roman; Martin Dutertre; Marc-Henri Stern
Journal: Nat Commun Date: 2016-02-04 Impact factor: 17.694

11 in total

Review 1. Lower risk but high risk.

Authors: Amy E DeZern
Journal: Hematology Am Soc Hematol Educ Program Date: 2021-12-10

Review 2. Dysregulation and therapeutic targeting of RNA splicing in cancer.

Authors: Robert F Stanley; Omar Abdel-Wahab
Journal: Nat Cancer Date: 2022-05-27

3. Glycolysis Dependency as a Hallmark of SF3B1-Mutated Cells.

Authors: Raquel Vivet-Noguer; Malcy Tarin; Christine Canbezdi; Stephane Dayot; Lisseth Silva; Alexandre Houy; Sylvain Martineau; Virginie Mieulet; Géraldine Gentric; Damarys Loew; Bérangère Lombard; Fariba Nemati; Sophie Richon; Lea Guyonnet; Vincent Servois; Stephan Vagner; Marc-Henri Stern; Sergio Roman-Roman; Samar Alsafadi
Journal: Cancers (Basel) Date: 2022-04-24 Impact factor: 6.575

4. Impact of splicing mutations in acute myeloid leukemia treated with hypomethylating agents combined with venetoclax.

Authors: Curtis A Lachowiez; Sanam Loghavi; Ken Furudate; Guillermo Montalban-Bravo; Abhishek Maiti; Tapan Kadia; Naval Daver; Gautam Borthakur; Naveen Pemmaraju; Koji Sasaki; Yesid Alvarado; Musa Yilmaz; Nicholas J Short; Kelly Chien; Maro Ohanian; Sherry Pierce; Keyur P Patel; Elias Jabbour; Farhad Ravandi; Hagop M Kantarjian; Guillermo Garcia-Manero; Koichi Takahashi; Marina Y Konopleva; Courtney D DiNardo
Journal: Blood Adv Date: 2021-04-27

5. Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype.

Authors: Carolien Duetz; Theresia M Westers; Florentien E M In 't Hout; Eline M P Cremers; Canan Alhan; Bianca Venniker-Punt; Heleen A Visser-Wisselaar; Dana A Chitu; Aniek O de Graaf; Linda Smit; Joop H Jansen; Arjan A van de Loosdrecht
Journal: Br J Haematol Date: 2021-03-25 Impact factor: 6.998

6. Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution.

Authors: Christine Canbezdi; Malcy Tarin; Alexandre Houy; Dorine Bellanger; Tatiana Popova; Marc-Henri Stern; Sergio Roman-Roman; Samar Alsafadi
Journal: Comput Struct Biotechnol J Date: 2021-02-27 Impact factor: 7.271

7. Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms.

Authors: Justin Taylor; Xiaoli Mi; Khrystyna North; Moritz Binder; Alexander Penson; Terra Lasho; Katherine Knorr; Michael Haddadin; Bo Liu; Joseph Pangallo; Salima Benbarche; Daniel Wiseman; Ayalew Tefferi; Stephanie Halene; Yang Liang; Mrinal M Patnaik; Robert K Bradley; Omar Abdel-Wahab
Journal: Blood Date: 2020-09-24 Impact factor: 25.476

8. Detection of SF3B1 p.Lys700Glu Mutation by PNA-PCR Clamping in Myelodysplastic Syndromes and Myeloproliferative Neoplasms.

Authors: Jessica Petiti; Federico Itri; Elisabetta Signorino; Antonio Frolli; Carmen Fava; Marco Armenio; Silvia Marini; Emilia Giugliano; Marco Lo Iacono; Giuseppe Saglio; Daniela Cilloni
Journal: J Clin Med Date: 2022-02-25 Impact factor: 4.241

9. Two oppositely-charged sf3b1 mutations cause defective development, impaired immune response, and aberrant selection of intronic branch sites in Drosophila.

Authors: Bei Zhang; Zhan Ding; Liang Li; Ling-Kun Xie; Yu-Jie Fan; Yong-Zhen Xu
Journal: PLoS Genet Date: 2021-11-01 Impact factor: 5.917

10. Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.

Authors: Elise R Venable; Dong Chen; Constance P Chen; Kurt R Bessonen; Phuong L Nguyen; Jennifer L Oliveira; Kaaren K Reichard; James D Hoyer; Simon D Althoff; Dana J Roh; Mechelle A Miller; Kebede Begna; Mrinal M Patnaik; Mark R Litzow; Aref Al-Kali; David S Viswanatha; Rong He
Journal: Am J Clin Pathol Date: 2021-09-08 Impact factor: 2.493