Literature DB >> 30047419

Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.

Suneet Agarwal1.   

Abstract

Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure (BMF) syndrome characterized by variable manifestations and ages of onset, and predisposition to cancer. DC is one of a spectrum of diseases caused by mutations in genes regulating telomere maintenance, collectively referred to as telomere biology disorders (TBDs). Hematologic disease is common in children with DC/TBD. Timely diagnosis of underlying TBD in patients with BMF affects treatment and has been facilitated by increased awareness and availability of diagnostic tests in recent years. This article summarizes the pathophysiology, evaluation, and management of hematopoietic failure in patients with DC and other TBDs.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Aplastic anemia; Bone marrow failure; Bone marrow transplantation; Dyskeratosis congenita; Telomeres

Mesh：

Year:  2018        PMID： 30047419      PMCID： PMC7307713          DOI： 10.1016/j.hoc.2018.04.003

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


  92 in total

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Journal:  Leukemia       Date:  2011-10-18       Impact factor: 11.528

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Authors:  Mohamad M Al-Rahawan; Neelam Giri; Blanche P Alter
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4.  CTC1 Mutations in a patient with dyskeratosis congenita.

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5.  TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

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Journal:  Blood       Date:  2008-10-17       Impact factor: 22.113

Review 6.  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

7.  Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.

Authors:  Erik R Westin; Elizabeth Chavez; Kimberly M Lee; Francoise A Gourronc; Soraya Riley; Peter M Lansdorp; Frederick D Goldman; Aloysius J Klingelhutz
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8.  Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia.

Authors:  Phillip Scheinberg; James N Cooper; Elaine M Sloand; Colin O Wu; Rodrigo T Calado; Neal S Young
Journal:  JAMA       Date:  2010-09-22       Impact factor: 56.272

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Authors:  Alberto Diaz de Leon; Jennifer T Cronkhite; Anna-Luise A Katzenstein; J David Godwin; Ganesh Raghu; Craig S Glazer; Randall L Rosenblatt; Carlos E Girod; Edward R Garrity; Chao Xing; Christine Kim Garcia
Journal:  PLoS One       Date:  2010-05-19       Impact factor: 3.240

Review 10.  Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.

Authors:  R J Phillips; M Judge; D Webb; J I Harper
Journal:  Br J Dermatol       Date:  1992-09       Impact factor: 9.302
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Review 2.  Extrahematopoietic manifestations of the short telomere syndromes.

Authors:  Kristen E Schratz
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4.  Monitoring and treatment of MDS in genetically susceptible persons.

Authors:  Stella M Davies
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 5.  Ribosomopathies: Old Concepts, New Controversies.

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6.  Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.

Authors:  Siddharth Shukla; Ho-Chang Jeong; Christopher M Sturgeon; Roy Parker; Luis Francisco Zirnberger Batista
Journal:  Blood Adv       Date:  2020-06-23

Review 7.  An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Authors:  Marena R Niewisch; Sharon A Savage
Journal:  Expert Rev Hematol       Date:  2019-09-10       Impact factor: 2.819

8.  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
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10.  Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a novel mutation in the PARN gene.

Authors:  Z Belaya; O Golounina; A Nikitin; N Tarbaeva; E Pigarova; E Mamedova; M Vorontsova; I Shafieva; I Demina; W Van Hul
Journal:  Osteoporos Int       Date:  2020-11-27       Impact factor: 4.507
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