Evidence map›Paper›PMID 41111079›Full record

ArticleJournal of human genetics2026

Germline or somatic mutations in genes encoding microRNAs as biomarkers predicting the risk of adult T-cell leukemia/lymphoma.

Shimon Nakashima, Masataka Nakano, Tatsuki Fukami, Takashi Ishida, Masaki Ri, Kenji Ishitsuka, Go Eguchi, Yasuhiro Maeda, Kentaro Yonekura, Hidenori Sasaki and 5 more

Abstract read
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In one paragraph

Article in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Shimon NakashimaDrug Metabolism and Toxicology, Faculty of Pharmaceutical Sciences, Kanazawa University, Kanazawa, Japan.
Masataka NakanoDrug Metabolism and Toxicology, Faculty of Pharmaceutical Sciences, Kanazawa University, Kanazawa, Japan.
Tatsuki FukamiDrug Metabolism and Toxicology, Faculty of Pharmaceutical Sciences, Kanazawa University, Kanazawa, Japan.
Takashi IshidaDepartment of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Masaki RiDepartment of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Kenji IshitsukaDepartment of Hematology and Rheumatology, Kagoshima University Hospital, Kagoshima, Japan.
Go EguchiNational Hospital Organization Osaka Minami Medical Center, Osaka, Japan.
Yasuhiro MaedaNational Hospital Organization Osaka Minami Medical Center, Osaka, Japan.
Kentaro YonekuraDepartment of Dermatology, Imamura General Hospital, Kagoshima, Japan.
Hidenori SasakiDivision of Medical Oncology, Hematology and Infectious Diseases, Fukuoka University Hospital, Fukuoka, Japan.
Shinsuke IidaDepartment of Hematology and Oncology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Ryuzo UedaDepartment of Tumor Immunology, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID http://orcid.org/0000-0003-1120-1142
Makoto OsabeDepartment of Regulatory Science, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Japan.
Masahiro TohkinDepartment of Regulatory Science, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Japan.
Miki NakajimaDrug Metabolism and Toxicology, Faculty of Pharmaceutical Sciences, Kanazawa University, Kanazawa, Japan. nmiki@p.kanazawa-u.ac.jp.

Funding

Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan) none
6 · The paper itself

Abstract

Single nucleotide polymorphisms in microRNA genes (miRNA-SNPs) can alter miRNA maturation or target mRNA recognition, resulting in gain- or loss-of-function, and are associated with various diseases. This study aimed to identify miRNA-SNPs or somatic mutations in miRNA gens that could serve as biomarkers for the onset or progression of adult T-cell lymphoma-leukemia (ATLL), using next-generation sequencing (NGS) targeting 1809 pre-miRNA genes. Genomic DNA extracted from peripheral blood samples from 31 ATLL patients with low human T-cell leukemia virus type-1 (HTLV-1) proviral loads and 28 healthy subjects was analyzed. Fourteen miRNA-SNPs with significantly different allele frequencies were between the two groups were identified. To determine whether the observed variants were germline or somatic, miRNA-SNPs detected in blood-derived DNA were compared with those from saliva-derived DNA in 6 out of 31 patients. Concordant results between the two sources suggested the variants were germline SNPs. Furthermore, comparison of blood-derived DNA samples from 10 ATLL patients collected during low and high HTLV-1 proviral load periods revealed 10 somatic mutations in pre-miRNA genes, including pre-mir-142, present only in high proviral load samples. These somatic mutations may serve as markers of ATLL progression. In conclusion, out comprehensive NGS analysis identified both germline miRNA-SNPs and somatic mutations that may act as biomarkers for the onset or progression of ATLL. Future studies with larger cohorts will be essential to validate their clinical utility.

Indexed as

Biomarkers, TumorGerm-Line MutationLeukemia-Lymphoma, Adult T-CellMicroRNAsMutationAdultAgedCase-Control StudiesFemaleGene FrequencyGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansHuman T-lymphotropic virus 1MaleMiddle AgedBiomarkers, TumorMicroRNAs

Identifiers

PMID41111079

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.