Cited by 285Myeloproliferative Neoplasms: Diagnosis and TreatmentCancer Genomics and DiagnosticsAcute Myeloid Leukemia Research

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Life histories of myeloproliferative neoplasms inferred from phylogenies

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Williams, Nicholas, Lee, Joe, Mitchell, Emily, Moore, Luiza, Baxter, E. Joanna, Hewinson, James, Dawson, Kevin J., Menzies, Andrew, Godfrey, Anna L., Green, Anthony R., Campbell, Peter J., Nangalia, Jyoti·2022·Nature

DOI 10.1038/s41586-021-04312-6

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Abstract

Mutations in cancer-associated genes drive tumour outgrowth, but our knowledge of the timing of driver mutations and subsequent clonal dynamics is limited 1-3. Here, using whole-genome sequencing of 1,013 clonal haematopoietic colonies from 12 patients with myeloproliferative neoplasms, we identified 580,133 somatic mutations to reconstruct haematopoietic phylogenies and determine clonal histories. Driver mutations were estimated to occur early in life, including the in utero period. JAK2 V617F was estimated to have been acquired by 33 weeks of gestation to 10.8 years of age in 5 patients in whom JAK2 V617F was the first event. DNMT3A mutations were acquired by 8 weeks of gestation to 7.6 years of age in 4 patients, and a PPM1D mutation was acquired by 5.8 years of age. Additional genomic events occurred before or following JAK2 V617F acquisition and as independent clonal expansions. Sequential driver mutation acquisition was separated by decades across life, often outcompeting ancestral clones. The mean latency between JAK2 V617F acquisition and diagnosis was 30 years (range 11-54 years). Estimated historical rates of clonal expansion varied substantially (3% to 190% per year), increased with additional driver mutations, and predicted latency to diagnosis. Our study suggests that early driver mutation acquisition and life-long growth and evolution underlie adult myeloproliferative neoplasms, raising opportunities for earlier intervention and a new model for cancer development.

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Authors: Williams, N., Lee, J., Mitchell, E., Moore, L., Baxter, E. J., Hewinson, J., Dawson, K. J., Menzies, A., Godfrey, A. L., Green, A. R., Campbell, P. J., & Nangalia, J.
Affiliations: Wellcome Sanger Institute (GB)
Wellcome/MRC Cambridge Stem Cell Institute (GB)
University of Cambridge (GB)
Cambridge University Hospitals NHS Foundation Trust (GB)
Corresponding author: Nangalia, Jyoti
ORCID: Williams, Nicholas
Moore, Luiza
Campbell, Peter J.
Nangalia, Jyoti
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2022-01-20
Volume: 602
Issue: 7895
Pages: 162-168
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/s41586-021-04312-6
OpenAlex: W4205211254
Cited by: 285
References: 64
Citations by year: 2026: 40 · 2025: 52 · 2024: 74 · 2023: 65 · 2022: 52
FWCI: 37.71
Type: journal article
Language: en
Open access: green
doi.org
Licence: cc-by
www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature (publishedVersion)
Research Square (acceptedVersion, cc-by)
PubMed (publishedVersion)
Funders: MPN Research Foundation
Wellcome Trust (104710/Z/14/Z)
Cancer Research UK (23917)
Kay Kendall Leukaemia Fund
Blood Cancer UK
Medical Research Council (MC_PC_17230)
Topics: Health Sciences › Medicine › Hematology › Myeloproliferative Neoplasms: Diagnosis and Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords: myeloproliferative neoplasms, driver mutations, clonal evolution, JAK2 V617F mutation, DNMT3A, PPM1D, clonal expansion, mutation timing, carcinogenesis
MeSH terms: Protein Phosphatase 2C, Whole Genome Sequencing, Adult, Child, Preschool, Clone Cells, Humans, Mutation, Myeloproliferative Disorders, Neoplasms, Phylogeny, Janus Kinase 2

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Life histories of myeloproliferative neoplasms inferred from phylogenies

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