Cited by 49Acute Myeloid Leukemia ResearchCancer Genomics and DiagnosticsHematopoietic Stem Cell Transplantation

Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3A and TET2

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van den Akker, Erik B., Pitts, Steven J., Deelen, Joris, Moed, Matthijs H., Potluri, Shobha, van Rooij, Jeroen, Suchiman, H. Eka D., Lakenberg, Nico +13 more·2016·Blood

Abstract

To the editor: Recent large-scale sequencing studies report recurrent somatic mutations in the blood of elderly individuals in genes previously linked to clonal expansion of hematopoietic stem cells.[1][1][⇓][2][⇓][3]-[4][4] Particularly for DNMT3A and TET2 , a steep age-associated increase in

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Crossref · 10.1182/blood-2015-12-685925

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  • Many very old but healthy individuals have prominent clonal hematopoiesis without any signs of disease.

    “in many perfectly healthy very aged individuals, prominent clonal hematopoiesis is present without any signs of disease.”

    From Aging of hematopoietic stem cells (2018) · cites this paper as [81]

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  1. Haroche J, Arnaud L, Cohen-Aubart F, et al. Erdheim-Chester disease. Curr Rheumatol Rep. 2014;16(4):412.
  2. Aouba A, Georgin-Lavialle S, Pagnoux C, et al. Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood. 2010;116(20): 4070-4076.
  3. Tran TA, Pariente D, Lecron JC, Delwail A, Taoufik Y, Meinzer U. Treatment of pediatric Erdheim-Chester disease with interleukin-1-targeting drugs. Arthritis Rheum. 2011;63(12):4031-4032.
  4. Aubert O, Aouba A, Deshayes S, Georgin-Lavialle S, Rieu P, Hermine O. Favorable radiological outcome of skeletal Erdheim-Chester disease involvement with anakinra. Joint Bone Spine. 2013;80(2):206-207.
  5. Killu AM, Liang JJ, Jaffe AS. Erdheim-Chester disease with cardiac involvement successfully treated with anakinra. Int J Cardiol. 2013;167(5):e115-e117.
  6. Courcoul A, Vignot E, Chapurlat R. Successful treatment of Erdheim-Chester disease by interleukin-1 receptor antagonist protein. Joint Bone Spine. 2014; 81(2):175-177.
  7. Darstein F, Kirschey S, Heckl S, et al. Successful treatment of Erdheim-Chester disease with combination of interleukin-1-targeting drugs and high-dose glucocorticoids. Intern Med J. 2014;44(1):90-92.
  8. Cohen PR, Kurzrock R. Anakinra-responsive lichen planus in a woman with Erdheim-Chester disease: a therapeutic enigma. Dermatol Online J. 2014; 20(1):21241.
  9. Diamond EL, Dagna L, Hyman DM, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014; 124(4):483-492. References

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Authors
van den Akker, E. B., Pitts, S. J., Deelen, J., Moed, M. H., Potluri, S., van Rooij, J., Suchiman, H. E. D., Lakenberg, N., de Dijcker, W. J., Uitterlinden, A. G., Kraaij, R., Hofman, A., de Craen, A. J. M., Houwing-Duistermaat, J. J., van Ommen, G.-J. B., on behalf of the Genome of The Netherlands Consortium, Cox, D. R., van Meurs, J. B. J., Beekman, M., Reinders, M. J. T., & Slagboom, P. E.
Affiliations
  • Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands;
  • Pfizer (United States) (US)
  • Leiden University Medical Center (NL)
  • Internal Medicine and
  • Erasmus MC (NL)
  • Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands; and
  • Gerontology and Geriatrics,
  • Medical Statistics, and
  • Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
  • Delft University of Technology (NL)
Venue
Blood
Published
2016-03-17
Volume
127
Issue
11
Pages
1512-1515
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
OpenAlex
W2332549416
Cited by
49
References
8
Citations by year
2026: 1 · 2025: 7 · 2024: 2 · 2023: 3 · 2022: 5 · 2021: 3 · 2020: 10 · 2019: 4 · 2018: 5 · 2017: 7 · 2016: 2
FWCI
5.71
Type
journal article
Language
en
Open access
Locations
  • Blood (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
  • VU Research Portal (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
  • RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • Leiden Repository (Leiden University) (submittedVersion)
Funders
  • Pfizer
  • European Commission (FP7/2007-2011, FP7/2007, 259679)
  • ZonMw (184.021.007, 050-060-810)
  • Erasmus Medisch Centrum
  • Nederlandse Organisatie voor Wetenschappelijk Onderzoek (184021007, 050.060.810, NWO 184.021.007)
  • Medical Delta
Topics
  • Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
Keywords
DNMT3A, TET2, somatic mutations, oldest old, 10-year survival, germline mutations
MeSH terms
DNA Methyltransferase 3A, Aged, Aged, 80 and over, Aging, DNA, DNA (Cytosine-5-)-Methyltransferases, DNA-Binding Proteins, Female, Follow-Up Studies, Hematopoiesis, Humans, Longevity, Male, Mutation, Netherlands, Proto-Oncogene Proteins, Sequence Analysis, DNA, Dioxygenases

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