Literature DB >> 25676417

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

C N Hahn1, P J Brautigan2, C-E Chong2, A Janssan3, P Venugopal3, Y Lee4, A E Tims5, M S Horwitz6, M Klingler-Hoffmann3, H S Scott7.   

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Year:  2015        PMID： 25676417     DOI： 10.1038/leu.2015.40

Source DB:  PubMed          Journal:  Leukemia        ISSN： 0887-6924            Impact factor:   11.528


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  15 in total

1.  Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Authors:  Jan Kazenwadel; Genevieve A Secker; Yajuan J Liu; Jill A Rosenfeld; Robert S Wildin; Jennifer Cuellar-Rodriguez; Amy P Hsu; Sarah Dyack; Conrad V Fernandez; Chan-Eng Chong; Milena Babic; Peter G Bardy; Akiko Shimamura; Michael Y Zhang; Tom Walsh; Steven M Holland; Dennis D Hickstein; Marshall S Horwitz; Christopher N Hahn; Hamish S Scott; Natasha L Harvey
Journal:  Blood       Date:  2011-12-06       Impact factor: 22.113

2.  Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

Authors:  Csaba Bödör; Aline Renneville; Matthew Smith; Aurélie Charazac; Sameena Iqbal; Pascaline Etancelin; Jamie Cavenagh; Michael J Barnett; Karolina Kramarzová; Biju Krishnan; András Matolcsy; Claude Preudhomme; Jude Fitzgibbon; Carolyn Owen
Journal:  Haematologica       Date:  2012-01-22       Impact factor: 9.941

3.  Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Authors:  Harriet Holme; Upal Hossain; Michael Kirwan; Amanda Walne; Tom Vulliamy; Inderjeet Dokal
Journal:  Br J Haematol       Date:  2012-04-26       Impact factor: 6.998

4.  GATA-2 L359 V mutation is exclusively associated with CML progression but not other hematological malignancies and GATA-2 P250A is a novel single nucleotide polymorphism.

Authors:  Su-Jiang Zhang; Jing-Yi Shi; Jian-Yong Li
Journal:  Leuk Res       Date:  2009-03-21       Impact factor: 3.156

5.  Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Authors:  Amy P Hsu; Elizabeth P Sampaio; Javed Khan; Katherine R Calvo; Jacob E Lemieux; Smita Y Patel; David M Frucht; Donald C Vinh; Roger D Auth; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Christa S Zerbe; Christine Spalding; Stefania Pittaluga; Mark Raffeld; Douglas B Kuhns; Li Ding; Michelle L Paulson; Beatriz E Marciano; Juan C Gea-Banacloche; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal:  Blood       Date:  2011-06-13       Impact factor: 22.113

6.  Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Authors:  Pia Ostergaard; Michael A Simpson; Fiona C Connell; Colin G Steward; Glen Brice; Wesley J Woollard; Dimitra Dafou; Tatjana Kilo; Sarah Smithson; Peter Lunt; Victoria A Murday; Shirley Hodgson; Russell Keenan; Daniela T Pilz; Ines Martinez-Corral; Taija Makinen; Peter S Mortimer; Steve Jeffery; Richard C Trembath; Sahar Mansour
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

7.  Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia.

Authors:  Su-Jiang Zhang; Li-Yuan Ma; Qiu-Hua Huang; Guo Li; Bai-Wei Gu; Xiao-Dong Gao; Jing-Yi Shi; Yue-Ying Wang; Li Gao; Xun Cai; Rui-Bao Ren; Jiang Zhu; Zhu Chen; Sai-Juan Chen
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-04       Impact factor: 11.205

8.  Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Authors:  Rachel Emma Dickinson; Helen Griffin; Venetia Bigley; Louise N Reynard; Rafiqul Hussain; Muzlifah Haniffa; Jeremy H Lakey; Thahira Rahman; Xiao-Nong Wang; Naomi McGovern; Sarah Pagan; Sharon Cookson; David McDonald; Ignatius Chua; Jonathan Wallis; Andrew Cant; Michael Wright; Bernard Keavney; Patrick F Chinnery; John Loughlin; Sophie Hambleton; Mauro Santibanez-Koref; Matthew Collin
Journal:  Blood       Date:  2011-07-15       Impact factor: 22.113

9.  Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Authors:  Christopher N Hahn; Chan-Eng Chong; Catherine L Carmichael; Ella J Wilkins; Peter J Brautigan; Xiao-Chun Li; Milena Babic; Ming Lin; Amandine Carmagnac; Young K Lee; Chung H Kok; Lucia Gagliardi; Kathryn L Friend; Paul G Ekert; Carolyn M Butcher; Anna L Brown; Ian D Lewis; L Bik To; Andrew E Timms; Jan Storek; Sarah Moore; Meryl Altree; Robert Escher; Peter G Bardy; Graeme K Suthers; Richard J D'Andrea; Marshall S Horwitz; Hamish S Scott
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

Review 10.  Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Authors:  Juehua Gao; Ryan D Gentzler; Andrew E Timms; Marshall S Horwitz; Olga Frankfurt; Jessica K Altman; LoAnn C Peterson
Journal:  J Hematol Oncol       Date:  2014-04-22       Impact factor: 17.388
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  7 in total

Review 1.  Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

Authors:  Anna L Brown; Christopher N Hahn; Hamish S Scott
Journal:  Blood       Date:  2020-07-02       Impact factor: 22.113

Review 2.  GATA factor mutations in hematologic disease.

Authors:  John D Crispino; Marshall S Horwitz
Journal:  Blood       Date:  2017-02-08       Impact factor: 22.113

Review 3.  Heterogeneity of GATA2-related myeloid neoplasms.

Authors:  Shinsuke Hirabayashi; Marcin W Wlodarski; Emilia Kozyra; Charlotte M Niemeyer
Journal:  Int J Hematol       Date:  2017-06-22       Impact factor: 2.490

4.  Association of unbalanced translocation der(1;7) with germline GATA2 mutations.

Authors:  Emilia J Kozyra; Gudrun Göhring; Dennis D Hickstein; Katherine R Calvo; Courtney D DiNardo; Michael Dworzak; Valerie de Haas; Jan Starý; Henrik Hasle; Akiko Shimamura; Mark D Fleming; Hiroto Inaba; Sara Lewis; Amy P Hsu; Steven M Holland; Danielle E Arnold; Cristina Mecucci; Siobán B Keel; Alison A Bertuch; Kiran Tawana; Shlomit Barzilai; Shinsuke Hirabayashi; Masahiro Onozawa; Shaohua Lei; Helena Alaiz; Hajnalka Andrikovics; David Betts; Berna H Beverloo; Jochen Buechner; Martin Čermák; José Cervera; Olga Haus; Kirsi Jahnukainen; Kalliopi N Manola; Karin Nebral; Francesco Pasquali; Joelle Tchinda; Dominik Turkiewicz; Nadine Van Roy; Zuzana Zemanova; Victor B Pastor; Brigitte Strahm; Peter Noellke; Charlotte M Niemeyer; Brigitte Schlegelberger; Ayami Yoshimi; Marcin W Wlodarski
Journal:  Blood       Date:  2021-12-09       Impact factor: 22.113

5.  Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Authors:  Edgar Borges de Oliveira-Júnior; Jérémie Rosain; Franck Rapaport; Caroline Deswarte; Antoine Guérin; Sairaj Munavar Sajjath; Yu Jerry Zhou; Stéphane Marot; Claire Lozano; Aurélie Cobat; Laurent Abel; Jean-Laurent Casanova; Carmen Oleaga-Quintas; Lidia Branco; Nuria Fernández-Hidalgo; Dukhee Betty Lew; Anne-Sophie Brunel; Caroline Thomas; Elise Launay; Andrés Augusto Arias; Alexis Cuffel; Vanesa Cunill Monjo; Anna-Lena Neehus; Laura Marques; Manon Roynard; Marcela Moncada-Vélez; Bengü Gerçeker; Roger Colobran; Marie-Gabrielle Vigué; Gabriela Lopez-Herrera; Laura Berron-Ruiz; Nora Hilda Segura Méndez; Patricia O'Farrill Romanillos; Tom Le Voyer; Anne Puel; Christine Bellanné-Chantelot; Kacy A Ramirez; Lazaro Lorenzo-Diaz; Noé Ramirez Alejo; Rebeca Pérez de Diego; Antonio Condino-Neto; Fethi Mellouli; Carlos Rodriguez-Gallego; Torsten Witte; José Franco Restrepo; Mariana Jobim; Stéphanie Boisson-Dupuis; Eric Jeziorski; Claire Fieschi; Guillaume Vogt; Jean Donadieu; Marlène Pasquet; Julia Vasconcelos; Fatma Omur Ardeniz; Mónica Martínez-Gallo; Regis A Campos; Luiz Fernando Jobim; Rubén Martínez-Barricarte; Kang Liu; Jacinta Bustamante
Journal:  J Clin Immunol       Date:  2021-01-08       Impact factor: 8.317

Review 6.  Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Authors:  Sushree S Sahoo; Emilia J Kozyra; Marcin W Wlodarski
Journal:  Best Pract Res Clin Haematol       Date:  2020-07-29       Impact factor: 3.020

7.  Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Authors:  Emilia J Kozyra; Victor B Pastor; Stylianos Lefkopoulos; Sushree S Sahoo; Hauke Busch; Rebecca K Voss; Miriam Erlacher; Dirk Lebrecht; Enikoe A Szvetnik; Shinsuke Hirabayashi; Ramunė Pasaulienė; Lucia Pedace; Marco Tartaglia; Christian Klemann; Patrick Metzger; Melanie Boerries; Albert Catala; Henrik Hasle; Valerie de Haas; Krisztián Kállay; Riccardo Masetti; Barbara De Moerloose; Michael Dworzak; Markus Schmugge; Owen Smith; Jan Starý; Ester Mejstrikova; Marek Ussowicz; Emma Morris; Preeti Singh; Matthew Collin; Marta Derecka; Gudrun Göhring; Christian Flotho; Brigitte Strahm; Franco Locatelli; Charlotte M Niemeyer; Eirini Trompouki; Marcin W Wlodarski
Journal:  Leukemia       Date:  2020-06-18       Impact factor: 11.528
  7 in total

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