Literature DB >> 32089214

Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.

Kristen E Schratz1, Amy E DeZern2.   

Abstract

Myelodysplastic syndromes (MDSs) are a heterogeneous group of marrow failure disorders that primarily affect older persons but also occur at a lower frequency in children and young adults. There is increasing recognition of an inherited predisposition to MDS as well as other myeloid malignancies for patients of all ages. Germline predisposition to MDS can occur as part of a syndrome or sporadic disease. The timely diagnosis of an underlying genetic predisposition in the setting of MDS is important. This article delineates germline genetic causes of MDS and provides a scaffold for the diagnosis and management of patients in this context.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Diagnostic testing; Germline mutations; Hematopoietic stem cell transplant; Inherited predisposition; Myelodysplastic syndrome; Somatic mutations

Mesh:

Substances:

Year:  2020        PMID: 32089214      PMCID: PMC7875473          DOI: 10.1016/j.hoc.2019.10.002

Source DB:  PubMed          Journal:  Hematol Oncol Clin North Am        ISSN: 0889-8588            Impact factor:   3.722


  146 in total

1.  MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.

Authors:  Lisa J McReynolds; Yanqin Yang; Hong Yuen Wong; Jingrong Tang; Yubo Zhang; Matthew P Mulé; Janine Daub; Cindy Palmer; Ladan Foruraghi; Qingguo Liu; Jun Zhu; Weixin Wang; Robert R West; Marielle E Yohe; Amy P Hsu; Dennis D Hickstein; Danielle M Townsley; Steven M Holland; Katherine R Calvo; Christopher S Hourigan
Journal:  Leuk Res       Date:  2018-12-04       Impact factor: 3.156

2.  Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.

Authors:  Hiroki Yamaguchi; Gabriela M Baerlocher; Peter M Lansdorp; Stephen J Chanock; Olga Nunez; Elaine Sloand; Neal S Young
Journal:  Blood       Date:  2003-04-03       Impact factor: 22.113

3.  Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.

Authors:  Kevin E Fisher; Amy P Hsu; Christopher L Williams; Hadi Sayeed; Brian Y Merritt; M Tarek Elghetany; Steven M Holland; Alison A Bertuch; Maria Monica Gramatges
Journal:  Blood Adv       Date:  2017-02-27

4.  ICCS/ESCCA consensus guidelines to detect GPI-deficient cells in paroxysmal nocturnal hemoglobinuria (PNH) and related disorders part 1 - clinical utility.

Authors:  Amy E Dezern; Michael J Borowitz
Journal:  Cytometry B Clin Cytom       Date:  2018-01       Impact factor: 3.058

Review 5.  Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.

Authors:  Pasquale Barbaro; Aditi Vedi
Journal:  Biol Blood Marrow Transplant       Date:  2016-03-08       Impact factor: 5.742

6.  Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.

Authors:  Jean Donadieu; Odile Fenneteau; Blandine Beaupain; Sandrine Beaufils; Florence Bellanger; Nizar Mahlaoui; Anne Lambilliotte; Nathalie Aladjidi; Yves Bertrand; Valérie Mialou; Christine Perot; Gérard Michel; Fanny Fouyssac; Catherine Paillard; Virginie Gandemer; Patrick Boutard; Jacques Schmitz; Alain Morali; Thierry Leblanc; Christine Bellanné-Chantelot
Journal:  Haematologica       Date:  2012-04-04       Impact factor: 9.941

Review 7.  Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia.

Authors:  Motomi Osato
Journal:  Oncogene       Date:  2004-05-24       Impact factor: 9.867

8.  Evaluating somatic tumor mutation detection without matched normal samples.

Authors:  Jamie K Teer; Yonghong Zhang; Lu Chen; Eric A Welsh; W Douglas Cress; Steven A Eschrich; Anders E Berglund
Journal:  Hum Genomics       Date:  2017-09-04       Impact factor: 4.639

9.  Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Authors:  S R Cardoso; G Ryan; A J Walne; A Ellison; R Lowe; H Tummala; A Rio-Machin; L Collopy; A Al Seraihi; Y Wallis; P Page; S Akiki; J Fitzgibbon; T Vulliamy; I Dokal
Journal:  Leukemia       Date:  2016-06-02       Impact factor: 11.528

10.  Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Authors:  Blanche P Alter; Neelam Giri; Sharon A Savage; Philip S Rosenberg
Journal:  Haematologica       Date:  2017-10-19       Impact factor: 9.941

View more
  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

2.  The effect of decitabine-combined minimally myelosuppressive regimen bridged allo-HSCT on the outcomes of pediatric MDS from 10 years' experience of a single center.

Authors:  Junyan Gao; Yixin Hu; Li Gao; Peifang Xiao; Jun Lu; Shaoyan Hu
Journal:  BMC Pediatr       Date:  2022-05-27       Impact factor: 2.567

3.  The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Authors:  Christopher R Reilly; Mikko Myllymäki; Robert Redd; Shilpa Padmanaban; Druha Karunakaran; Valerie Tesmer; Frederick D Tsai; Christopher J Gibson; Huma Q Rana; Liang Zhong; Wael Saber; Stephen R Spellman; Zhen-Huan Hu; Esther H Orr; Maxine M Chen; Immaculata De Vivo; Daniel J DeAngelo; Corey Cutler; Joseph H Antin; Donna Neuberg; Judy E Garber; Jayakrishnan Nandakumar; Suneet Agarwal; R Coleman Lindsley
Journal:  Blood       Date:  2021-09-09       Impact factor: 25.476

Review 4.  Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome.

Authors:  Akiko Shimamura
Journal:  Best Pract Res Clin Haematol       Date:  2021-02-06       Impact factor: 3.670

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.