Evolution of retrovirus-infected premalignant T-cell clones prior to Adult T-cell leukemia/lymphoma diagnosis
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Supporting information
Accepted version
Author(s)
Type
Journal Article
Abstract
Adult T cell leukemia/lymphoma (ATL) is an aggressive hematological malignancy caused by Human T-cell leukemia virus type-1 (HTLV-1). ATL is preceded by decades of chronic HTLV-1 infection, and the tumors carry both somatic mutations and proviral DNA integrated into the tumor genome. In order to gain insight into the oncogenic process, we used targeted sequencing to track the evolution of the malignant clone in six individuals, 2-10 years before the diagnosis of ATL. Clones of premalignant HTLV-1-infected cells bearing known driver mutations were detected in the blood up to 10 years before individuals developed acute and lymphoma subtype ATL. Six months before diagnosis, the total number and variant allele fraction of mutations increased in the blood. Peripheral blood mononuclear cells from premalignant cases (1 year pre-diagnosis) had significantly higher mutational burden in genes frequently mutated in ATL than did high risk, age-matched HTLV-1-carriers who remained ATL-free after a median of 10 years of follow up. These data show that HTLV-1-infected T cell clones carrying key oncogenic driver mutations can be detected in cases of ATL years before the onset of symptoms. Early detection of such mutations may enable earlier and more effective intervention to prevent the development of ATL.
Date Issued
2020-06-04
Date Acceptance
2020-02-22
Citation
Blood, 2020, 135 (23), pp.2023-2032
ISSN
0006-4971
Publisher
American Society of Hematology
Start Page
2023
End Page
2032
Journal / Book Title
Blood
Volume
135
Issue
23
Copyright Statement
© 2020 American Society of Hematology.
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/32160278
PII: 452636
Subjects
Science & Technology
Life Sciences & Biomedicine
Hematology
MONOCLONAL PROLIFERATION
LEUKEMIA-LYMPHOMA
SOMATIC MUTATIONS
HTLV-1 CARRIERS
LONG-TERM
DISEASE
RISK
LYMPHOCYTES
SURVIVAL
CANCER
Clone Cells
Evolution, Molecular
HTLV-I Infections
Human T-lymphotropic virus 1
Humans
Leukemia-Lymphoma, Adult T-Cell
Leukocytes, Mononuclear
Longitudinal Studies
T-Lymphocytes
United Kingdom
Leukocytes, Mononuclear
T-Lymphocytes
Clone Cells
Humans
Human T-lymphotropic virus 1
HTLV-I Infections
Longitudinal Studies
Evolution, Molecular
Leukemia-Lymphoma, Adult T-Cell
United Kingdom
1102 Cardiorespiratory Medicine and Haematology
1103 Clinical Sciences
1114 Paediatrics and Reproductive Medicine
Immunology
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2020-03-05