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Cited by 301Telomeres, Telomerase, and SenescenceBlood disorders and treatmentsAcute Myeloid Leukemia Research

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

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Yamaguchi, Hiroki, Baerlocher, Gabriela M., Lansdorp, Peter M., Chanock, Stephen J., Nunez, Olga, Sloand, Elaine, Young, Neal S.·2003·Blood
DOI 10.1182/blood-2003-01-0335
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Abstract

Mutations in the human telomerase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC). Because of the possibility that TERC mutations might underlie seemingly acquired forms of bone marrow failure, we examined blood samples from a large number of patients with aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplasia (MDS). Only 3 of 210 cases showed heterozygous TERC mutations: both nucleotide 305 (n305) (G>A) and n322 (G>A) were within the conserved region (CR) 4–CR5 domain; n450 (G>A) was localized to the boxH/ACA domain. However, only one patient (with a mutation at n305 [G>A]) had clinical characteristics suggesting DKC; her blood cells contained short telomeres and her sister also suffered from bone marrow failure. Another 21 patients with short telomeres did not show TERC mutations. Our results suggest that cryptic DKC, at least secondary to mutations in the TERC gene, is an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS.

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  • Around 9% of patients with acquired aplastic anaemia carry mutations in TERC, TERT and DKC1, which are also mutated in inherited aplastic anaemia such as dyskeratosis congenita.

    “Around 9% of patients with acquired aplastic anaemia carry mutations in the telomerase components TERC, TERT and DKC1, which are also mutated in inherited aplastic anaemia, as in dyskeratosis congenita74,75.”

    From Telomere dysfunction in ageing and age-related diseases (2022) · cites this paper as [74]

    The Introduction (page unavailable) says TERC and DKC1 mutations occur in dyskeratosis congenita, and Table 2 lists TERC mutations in two patients diagnosed with aplastic anemia. But the paper does not establish a 9% prevalence for acquired aplastic anemia or report TERT mutations. The TERC abnormalities section instead reports three TERC mutations among 210 patients with several marrow-failure diagnoses, approximately 1.5%. (LLM, conf=0.90)

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  • Between 3% and 5% of aplastic anaemia patients have mutations in TERT or TR.

    “In addition, 3–5% of aplastic anaemia patients carry mutant TERT and TR genes41,72,73.”

    From The telomere syndromes (2012) · cites this paper as [73]

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1 of the 27 references couldn’t be matched to a known paper.

Research works printed but not linked: 2

  1. Calado RT, Pintao MC, Silva WA Jr, Falcao RP, Zago MA. Aplastic anaemia and telomerase RNA mutations [letter]. Lancet. 2002;360:1608.
  2. Kawar NM, Ivanovich J, Rothbaum RJ, et al. Hu- man telomerase RNA mutation in patients with bone marrow failure [abstract]. Blood. 2002;100: 232a.

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Authors
Yamaguchi, H., Baerlocher, G. M., Lansdorp, P. M., Chanock, S. J., Nunez, O., Sloand, E., & Young, N. S.
Affiliations
  • National Institutes of Health (US)
  • From the Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD; Terry Fox Laboratory, BC Cancer Research Center, Vancouver; Department of Medicine, University of British Columbia, Vancouver, Canada; and the Section on Genomic Variation, Pediatric Oncology Branch, National Cancer Institutes, Advanced Technology Center, Gaithersburg, MD
ORCID
Venue
Blood
Publisher
American Society of Hematology
Published
2003-08-01
Volume
102
Issue
3
Pages
916-918
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
DOI
10.1182/blood-2003-01-0335
OpenAlex
W2085418826
Cited by
301
References
27
Citations by year
2026: 2 · 2025: 3 · 2024: 7 · 2023: 11 · 2022: 5 · 2021: 4 · 2020: 13 · 2019: 9 · 2018: 16 · 2017: 19 · 2016: 12 · 2015: 14 · 2014: 19 · 2013: 13 · 2012: 14
FWCI
9.27
Type
journal article
Language
en
Open access
Locations
  • Blood (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
  • Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords
telomerase RNA, TERC mutations, aplastic anemia, myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria, dyskeratosis congenita, bone marrow failure, short telomeres, heterozygous mutation
MeSH terms
Anemia, Aplastic, Hemoglobinuria, Paroxysmal, Heterozygote, Humans, Mutation, Myelodysplastic Syndromes, RNA, Case-Control Studies, Telomerase, Dyskeratosis Congenita, Polymorphism, Single Nucleotide

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