The origin and evolution of mutations in acute myeloid leukemia
Open accessAbstract
Most mutations in cancer genomes are thought to be acquired after the initiating event, which may cause genomic instability and drive clonal evolution. However, for acute myeloid leukemia (AML), normal karyotypes are common, and genomic instability is unusual. To better understand clonal evolution in AML, we sequenced the genomes of M3-AML samples with a known initiating event (PML-RARA) versus the genomes of normal karyotype M1-AML samples and the exomes of hematopoietic stem/progenitor cells (HSPCs) from healthy people. Collectively, the data suggest that most of the mutations found in AML genomes are actually random events that occurred in HSPCs before they acquired the initiating mutation; the mutational history of that cell is "captured" as the clone expands. In many cases, only one or two additional, cooperating mutations are needed to generate the malignant founding clone. Cells from the founding clone can acquire additional cooperating mutations, yielding subclones that can contribute to disease progression and/or relapse.
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Mice lacking Msh2 display a genetic phenotype that closely mimics the spectrum of mutations found in aging human HSCs and in patients with myeloid leukemia.
“Mice lacking Msh2, the key component of both the MutSα and MutSβ complexes that mediate DNA MMR, display a genetic phenotype that closely mimics the spectrum of mutations found in aging human HSCs and in patients with myeloid leukemia (transition mutations and small insertions and deletions) 26, 27.”
From Minimal PU.1 reduction induces a preleukemic state and promotes development of acute myeloid leukemia (2015) · cites this paper as [27]
The Results section, “Identification of background mutations in normal human hematopoietic cells” (page not provided), says the spectrum in healthy human HSPCs was very similar to that in AML samples and that both had mostly transition mutations. “Whole genome sequencing of 24 AML samples” also reports indels in AML. Our copy does not establish that Msh2-deficient mice have a closely matching spectrum or that small insertions and deletions characterize aging human HSPCs. (LLM, conf=0.87)
Experimental — accuracy not yet measuredPreleukemic stem cell populations are the cellular origin of leukemia-initiating cells in human AML, and their functional importance and clinical significance have been confirmed in patients.
“Recent studies in patients with AML have confirmed the functional importance and clinical significance of preleukemic stem cell populations as the cellular origin of leukemia-initiating cells in human disease27, 48.”
From Minimal PU.1 reduction induces a preleukemic state and promotes development of acute myeloid leukemia (2015) · cites this paper as [27]
The Results (Whole genome sequencing of 24 AML samples; page unavailable) suggest that an AML-initiating mutation arises in a hematopoietic stem/progenitor cell, and the Discussion models its expansion into a founding clone. But the Results explicitly say this hypothesis cannot be proven directly; the paper does not confirm the functional importance or clinical significance of preleukemic stem cell populations as the origin of leukemia-initiating cells in patients. (LLM, conf=0.85)
Experimental — accuracy not yet measuredHematopoietic stem cells randomly acquire somatic mutations with age.
“Hematopoietic stem cells (HSCs) randomly acquire somatic mutations with age (1).”
From <i>Txnip</i> Enhances Fitness of <i>Dnmt3a</i> -Mutant Hematopoietic Stem Cells via <i>p21</i> (2022) · cites this paper as [1]
During human aging, mutations accumulate in blood cell genome and C-to-T mutations are most prevalent.
“Interestingly, during human aging, mutations accumulate in the genome of blood cells and C-to-T mutations are the most prevalent (Welch et al., 2012).”
From The Aging Epigenome (2016) · cites this paper as Welch et al., 2012
Each HSC acquires approximately 1 exonic mutation per decade of life.
“As each HSC acquires ~1 exonic mutation per decade of life 3,”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [3]
AML generally results from several driver mutations that occur sequentially in the same clone over time.
“Like most cancers, AML generally results from several driver mutations that occur sequentially in the same clone over time 3.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [3]
Aging is associated with a steady increase in the number of somatic mutations in virtually all tissues.
“Aging is associated with a steady increase in the number of somatic mutations in virtually all tissues 1–5.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [3]
Individual HSPCs accumulate somatic mutations as a function of age, such that by age 50, there are on average 5 coding gene mutations per HSPC.
“We recently reported that individual HSPCs accumulate somatic mutations as a function of age, such that by age 50, there are on average 5 coding gene mutations per HSPC11.”
From Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia (2015) · cites this paper as [11]
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- Authors
- Welch, J. S., Ley, T. J., Link, D. C., Miller, C. A., Larson, D. E., Koboldt, D. C., Wartman, L. D., Lamprecht, T. L., Liu, F., Xia, J., Kandoth, C., Fulton, R. S., McLellan, M. D., Dooling, D. J., Wallis, J. W., Chen, K., Harris, C. C., Schmidt, H. K., Kalicki-Veizer, J. M., Lu, C., Zhang, Q., Lin, L., O’Laughlin, M. D., McMichael, J. F., Delehaunty, K. D., Fulton, L. A., Magrini, V. J., McGrath, S. D., Demeter, R. T., Vickery, T. L., Hundal, J., Cook, L. L., Swift, G. W., Reed, J. P., Alldredge, P. A., Wylie, T. N., Walker, J. R., Watson, M. A., Heath, S. E., Shannon, W. D., Varghese, N., Nagarajan, R., Payton, J. E., Baty, J. D., Kulkarni, S., Klco, J. M., Tomasson, M. H., Westervelt, P., Walter, M. J., Graubert, T. A., DiPersio, J. F., Ding, L., Mardis, E. R., & Wilson, R. K.
- Affiliations
- Washington University in St. Louis (US)
- The University of Texas MD Anderson Cancer Center (US)
- Corresponding author
- Ley, Timothy J.
- ORCID
- Welch, John S.
- Ley, Timothy J.
- Link, Daniel C.
- Miller, Christopher A.
- Larson, David E.
- Koboldt, Daniel C.
- Wartman, Lukas D.
- Liu, Fulu
- Xia, Jun
- Kandoth, Cyriac
- Fulton, Robert S.
- McLellan, Michael D.
- Chen, Ken
- Lu, Charles
- Lin, Ling
- O’Laughlin, Michelle D.
- McMichael, Joshua F.
- Magrini, Vincent J.
- McGrath, Sean D.
- Vickery, Tammi L.
- Hundal, Jasreet
- Cook, Lisa L.
- Wylie, Todd N.
- Walker, Jason R.
- Watson, Mark A.
- Heath, Sharon E.
- Payton, Jacqueline E.
- Kulkarni, Shashikant
- Klco, Jeffery M.
- Tomasson, Michael H.
- Walter, Matthew J.
- Graubert, Timothy A.
- DiPersio, John F.
- Ding, Li
- Mardis, Elaine R.
- Wilson, Richard K.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2012-07
- Volume
- 150
- Issue
- 2
- Pages
- 264-278
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC3407563
- OpenAlex
- W2012753533
- Cited by
- 1,575
- References
- 85
- Citations by year
- 2026: 31 · 2025: 60 · 2024: 68 · 2023: 87 · 2022: 95 · 2021: 125 · 2020: 128 · 2019: 134 · 2018: 116 · 2017: 120 · 2016: 130 · 2015: 141 · 2014: 184 · 2013: 134 · 2012: 19
- FWCI
- 101.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 384 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R00HL103975, K99HL103975)
- National Human Genome Research Institute (U54HG003079)
- National Cancer Institute (P30 CA 91842, R01CA083962, P01CA101937, P30CA091842)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- acute myeloid leukemia, clonal evolution, hematopoietic stem and progenitor cells, PML-RARA fusion, normal karyotype, cooperating mutations, subclonal evolution, disease progression, relapse, genomic instability
- MeSH terms
- Adult, Aged, DNA Mutational Analysis, Female, Hematopoietic Stem Cells, Humans, Male, Middle Aged, Mutation, Recurrence, Skin, Leukemia, Myeloid, Acute, Oncogene Proteins, Fusion, Disease Progression, Genome-Wide Association Study, Young Adult, Clonal Evolution
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