Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia
Open accessAbstract
Loss-of-function mutations in telomerase complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, both diseases that predispose to acute myeloid leukemia. Loss of telomerase function produces short telomeres, potentially resulting in chromosome recombination, end-to-end fusion, and recognition as damaged DNA. We investigated whether mutations in telomerase genes also occur in acute myeloid leukemia. We screened bone marrow samples from 133 consecutive patients with acute myeloid leukemia and 198 controls for variations in TERT and TERC genes. An additional 89 patients from a second cohort, selected based on cytogenetic status, and 528 controls were further examined for mutations. A third cohort of 372 patients and 384 controls were specifically tested for one TERT gene variant. In the first cohort, 11 patients carried missense TERT gene variants that were not present in controls (P < 0.0001); in the second cohort, TERT mutations were associated with trisomy 8 and inversion 16. Mutation germ-line origin was demonstrated in 5 patients from whom other tissues were available. Analysis of all 3 cohorts (n = 594) for the most common gene variant (A1062T) indicated a prevalence 3 times higher in patients than in controls (n = 1,110; P = 0.0009). Introduction of TERT mutants into telomerase-deficient cells resulted in loss of enzymatic activity by haploinsufficiency. Inherited mutations in TERT that reduce telomerase activity are risk factors for acute myeloid leukemia. We propose that short and dysfunctional telomeres limit normal stem cell proliferation and predispose for leukemia by selection of stem cells with defective DNA damage responses that are prone to genome instability.
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In about 20% of familial leukaemia cases, acute myeloid leukaemia may be the first sign of an inherited TERT or TR mutation.
“Acute myeloid leukaemia is a known complication of aplastic anaemia, but it may possibly be a first presentation of a germline mutation in TERT or TR in a subset of familial leukaemia cases (20%)77 and, at a much lower frequency, sporadic cases78.”
From The telomere syndromes (2012) · cites this paper as [78]
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- Authors
- Calado, R. T., Regal, J. A., Hills, M., Yewdell, W. T., Dalmazzo, L. F., Zago, M. A., Lansdorp, P. M., Hogge, D., Chanock, S. J., Estey, E. H., Falcão, R. P., & Young, N. S.
- Affiliations
- National Institutes of Health (US)
- National Heart, Lung, and Blood Institute (US)
- BC Cancer Agency (CA)
- Universidade de São Paulo (BR)
- The University of Texas MD Anderson Cancer Center (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2009-01-27
- Volume
- 106
- Issue
- 4
- Pages
- 1187-1192
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC2627806
- OpenAlex
- W2047816315
- Cited by
- 184
- References
- 41
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 4 · 2023: 7 · 2022: 7 · 2021: 9 · 2020: 11 · 2019: 7 · 2018: 8 · 2017: 12 · 2016: 10 · 2015: 9 · 2014: 17 · 2013: 12 · 2012: 12
- FWCI
- 14.41
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Scientific Electronic Library Online (São Paulo Research Foundation, Latin American and Caribbean Center on Health Sciences Information, Conselho Nacional de Desenvolvimento Científico e Tecnológico) (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Keywords
- acute myeloid leukemia, telomerase, TERT mutation, TERC, haploinsufficiency, germline mutations, trisomy 8, dyskeratosis congenita, bone marrow failure, short telomeres, genomic instability, DNA damage response, stem cell proliferation, leukemia predisposition
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Cell Line, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Leukemia, Myeloid, Acute, Case-Control Studies, Telomere, Telomerase
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