Literature DB >> 33510405

Germline variants drive myelodysplastic syndrome in young adults.

Simone Feurstein1, Jane E Churpek2, Tom Walsh3, Sioban Keel4, Marja Hakkarainen5,6, Thomas Schroeder7, Ulrich Germing7, Stefanie Geyh7, Michael Heuser8, Felicitas Thol8, Christian Pohlkamp9, Torsten Haferlach9, Juehua Gao10, Carolyn Owen11, Gudrun Goehring12, Brigitte Schlegelberger12, Divij Verma13,14, Daniela S Krause13, Guimin Gao15, Tara Cronin16, Suleyman Gulsuner17, Ming Lee17, Colin C Pritchard18, Hari Prasanna Subramanian19, Daniela Del Gaudio19, Zejuan Li20, Soma Das19, Outi Kilpivaara5,21, Ulla Wartiovaara-Kautto5,6, Eunice S Wang16, Elizabeth A Griffiths16, Konstanze Döhner22, Hartmut Döhner22, Mary-Claire King17, Lucy A Godley23.   

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Year:  2021        PMID: 33510405      PMCID: PMC8725861          DOI: 10.1038/s41375-021-01137-0

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


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  13 in total

1.  Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

Authors:  Siobán B Keel; Angela Scott; Marilyn Sanchez-Bonilla; Phoenix A Ho; Suleyman Gulsuner; Colin C Pritchard; Janis L Abkowitz; Mary-Claire King; Tom Walsh; Akiko Shimamura
Journal:  Haematologica       Date:  2016-07-14       Impact factor: 9.941

2.  Germline DDX41 mutations define a significant entity within adult MDS/AML patients.

Authors:  Marie Sébert; Marie Passet; Anna Raimbault; Ramy Rahmé; Emmanuel Raffoux; Flore Sicre de Fontbrune; Marco Cerrano; Samuel Quentin; Nadia Vasquez; Mélanie Da Costa; Nicolas Boissel; Hervé Dombret; Régis Peffault de Latour; Gérard Socié; Raphaël Itzykson; Pierre Fenaux; Jean Soulier; Lionel Adès; Emmanuelle Clappier
Journal:  Blood       Date:  2019-10-24       Impact factor: 22.113

3.  Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

Authors:  Ibrahim Ghemlas; Hongbing Li; Bozana Zlateska; Robert Klaassen; Conrad V Fernandez; Rochelle A Yanofsky; John Wu; Yves Pastore; Mariana Silva; Jeff H Lipton; Josee Brossard; Bruno Michon; Sharon Abish; MacGregor Steele; Roona Sinha; Mark Belletrutti; Vicky R Breakey; Lawrence Jardine; Lisa Goodyear; Lillian Sung; Santhosh Dhanraj; Emma Reble; Amanda Wagner; Joseph Beyene; Peter Ray; Stephen Meyn; Michaela Cada; Yigal Dror
Journal:  J Med Genet       Date:  2015-07-01       Impact factor: 6.318

4.  Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Authors:  Joshua D Milner; Tiphanie P Vogel; Lisa Forbes; Chi A Ma; Asbjørg Stray-Pedersen; Julie E Niemela; Jonathan J Lyons; Karin R Engelhardt; Yu Zhang; Nermina Topcagic; Elisha D O Roberson; Helen Matthews; James W Verbsky; Trivikram Dasu; Alexander Vargas-Hernandez; Nidhy Varghese; Kenneth L McClain; Lina B Karam; Karen Nahmod; George Makedonas; Emily M Mace; Hanne S Sorte; Gøri Perminow; V Koneti Rao; Michael P O'Connell; Susan Price; Helen C Su; Morgan Butrick; Joshua McElwee; Jason D Hughes; Joseph Willet; David Swan; Yaobo Xu; Mauro Santibanez-Koref; Voytek Slowik; Darrell L Dinwiddie; Christina E Ciaccio; Carol J Saunders; Seth Septer; Stephen F Kingsmore; Andrew J White; Andrew J Cant; Sophie Hambleton; Megan A Cooper
Journal:  Blood       Date:  2014-10-30       Impact factor: 22.113

5.  Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Authors:  Marcin W Wlodarski; Shinsuke Hirabayashi; Victor Pastor; Jan Starý; Henrik Hasle; Riccardo Masetti; Michael Dworzak; Markus Schmugge; Marry van den Heuvel-Eibrink; Marek Ussowicz; Barbara De Moerloose; Albert Catala; Owen P Smith; Petr Sedlacek; Arjan C Lankester; Marco Zecca; Victoria Bordon; Susanne Matthes-Martin; Jonas Abrahamsson; Jörn Sven Kühl; Karl-Walter Sykora; Michael H Albert; Bartlomiej Przychodzien; Jaroslaw P Maciejewski; Stephan Schwarz; Gudrun Göhring; Brigitte Schlegelberger; Annámaria Cseh; Peter Noellke; Ayami Yoshimi; Franco Locatelli; Irith Baumann; Brigitte Strahm; Charlotte M Niemeyer
Journal:  Blood       Date:  2015-12-23       Impact factor: 22.113

6.  Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Authors:  Jane E Churpek; Khateriaa Pyrtel; Krishna-Latha Kanchi; Jin Shao; Daniel Koboldt; Christopher A Miller; Dong Shen; Robert Fulton; Michelle O'Laughlin; Catrina Fronick; Iskra Pusic; Geoffrey L Uy; Evan M Braunstein; Mark Levis; Julie Ross; Kevin Elliott; Sharon Heath; Allan Jiang; Peter Westervelt; John F DiPersio; Daniel C Link; Matthew J Walter; John Welch; Richard Wilson; Timothy J Ley; Lucy A Godley; Timothy A Graubert
Journal:  Blood       Date:  2015-10-22       Impact factor: 22.113

7.  Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

Authors:  A C Dietz; P J Orchard; K S Baker; R H Giller; S A Savage; B P Alter; J Tolar
Journal:  Bone Marrow Transplant       Date:  2010-04-12       Impact factor: 5.174

8.  The genomic landscape of pediatric myelodysplastic syndromes.

Authors:  Jason R Schwartz; Jing Ma; Tamara Lamprecht; Michael Walsh; Shuoguo Wang; Victoria Bryant; Guangchun Song; Gang Wu; John Easton; Chimene Kesserwan; Kim E Nichols; Charles G Mullighan; Raul C Ribeiro; Jeffery M Klco
Journal:  Nat Commun       Date:  2017-11-16       Impact factor: 14.919

9.  Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.

Authors:  L Guidugli; A K Johnson; G Alkorta-Aranburu; V Nelakuditi; K Arndt; J E Churpek; L A Godley; D Townsley; N S Young; C Fitzpatrick; D Del Gaudio; S Das; Z Li
Journal:  Leukemia       Date:  2017-01-20       Impact factor: 11.528

10.  Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.

Authors:  Amy M Trottier; Lawrence J Druhan; Ira L Kraft; Amanda Lance; Simone Feurstein; Maria Helgeson; Jeremy P Segal; Soma Das; Belinda R Avalos; Lucy A Godley
Journal:  Blood Adv       Date:  2020-10-27
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  4 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.  Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.

Authors:  Serine Avagyan; Akiko Shimamura
Journal:  Front Oncol       Date:  2022-03-09       Impact factor: 6.244

3.  Therapy-related myeloid neoplasms in 109 patients after radiation monotherapy.

Authors:  Anand Ashwin Patel; Alexandra E Rojek; Michael W Drazer; Howard Weiner; Lucy A Godley; Michelle M Le Beau; Richard A Larson
Journal:  Blood Adv       Date:  2021-10-26

4.  Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Authors:  Oded Gilad; Orly Dgany; Sharon Noy-Lotan; Tanya Krasnov; Joanne Yacobovich; Ron Rabinowicz; Tracie Goldberg; Amir A Kuperman; Abed Abu-Quider; Hagit Miskin; Noa Kapelushnik; Noa Mandel-Shorer; Shai Shimony; Dan Harlev; Tal Ben-Ami; Etai Adam; Carina Levin; Shraga Aviner; Ronit Elhasid; Sivan Berger-Achituv; Lilach Chaitman-Yerushalmi; Yona Kodman; Nino Oniashvilli; Michal Hameiri-Grosman; Shai Izraeli; Hannah Tamary; Orna Steinberg-Shemer
Journal:  Haematologica       Date:  2022-09-01       Impact factor: 11.047

  4 in total

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