Evidence map›Paper›PMID 29449433›Full record

ArticleHaematologica2018

Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations.

Andreas Agathangelidis, Viktor Ljungström, Lydia Scarfò, Claudia Fazi, Maria Gounari, Tatjana Pandzic, Lesley-Ann Sutton, Kostas Stamatopoulos, Giovanni Tonon, Richard Rosenquist and 1 more

Open access · goldAbstract read
In one paragraph

Article in Haematologica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
4.1field-weighted citation impact, top 6% of its field
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

38 citing papers in PubMed, 59 citations in OpenAlex.

  1. Review
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  7. Stereotyped B-Cell Receptor Immunoglobulins in B-Cell Lymphomas.Methods in molecular biology (Clifton, N.J.) · 2025
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  17. The Broad Spectrum ofHuman mutation · 2023
    Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 3 countries.

Andreas AgathangelidisStrategic Research Program on CLL and B-cell Neoplasia Unit, Division of Experimental Oncology, Università Vita-Salute San Raffaele and IRCCS Istituto Scientifico San Raffaele, Milan, Italy.
Viktor LjungströmDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden.
Lydia ScarfòStrategic Research Program on CLL and B-cell Neoplasia Unit, Division of Experimental Oncology, Università Vita-Salute San Raffaele and IRCCS Istituto Scientifico San Raffaele, Milan, Italy.
Claudia FaziStrategic Research Program on CLL and B-cell Neoplasia Unit, Division of Experimental Oncology, Università Vita-Salute San Raffaele and IRCCS Istituto Scientifico San Raffaele, Milan, Italy.
Maria GounariStrategic Research Program on CLL and B-cell Neoplasia Unit, Division of Experimental Oncology, Università Vita-Salute San Raffaele and IRCCS Istituto Scientifico San Raffaele, Milan, Italy.
Tatjana PandzicDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden.
Lesley-Ann SuttonDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden.
Kostas StamatopoulosInstitute of Applied Biosciences, Center for Research and Technology Hellas, Thessaloniki, Greece.
Giovanni TononFunctional Genomics of Cancer Unit, Division of Experimental Oncology, IRCCS Istituto Scientifico San Raffaele, Milan, Italy.
Richard RosenquistDepartment of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden.
Paolo GhiaStrategic Research Program on CLL and B-cell Neoplasia Unit, Division of Experimental Oncology, Università Vita-Salute San Raffaele and IRCCS Istituto Scientifico San Raffaele, Milan, Italy ghia.paolo@hsr.it.
Istituti di Ricovero e Cura a Carattere Scientifico · ITUppsala University · SECentre for Research and Technology Hellas · GRScience for Life Laboratory · SEVita-Salute San Raffaele University · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite the recent discovery of recurrent driver mutations in chronic lymphocytic leukemia, the genetic factors involved in disease onset remain largely unknown. To address this issue, we performed whole-genome sequencing in 11 individuals with monoclonal B- cell lymphocytosis, both of the low-count and high-count subtypes, and 5 patients with ultra-stable chronic lymphocytic leukemia (>10 years without progression from initial diagnosis). All three entities were indistinguishable at the genomic level exhibiting low genomic complexity and similar types of somatic mutations. Exonic mutations were not frequently identified in putative chronic lymphocytic leukemia driver genes in all settings, including low-count monoclonal B-cell lymphocytosis. To corroborate these findings, we also performed deep sequencing in 11 known frequently mutated genes in an extended cohort of 28 monoclonal B-cell lymphocytosis/chronic lymphocytic leukemia cases. Interestingly, shared mutations were detected between clonal B cells and paired polymorphonuclear cells, strengthening the notion that at least a fraction of somatic mutations may occur before disease onset, likely at the hematopoietic stem cell level. Finally, we identified previously unreported non-coding variants targeting pathways relevant to B-cell and chronic lymphocytic leukemia development, likely associated with the acquisition of the characteristic neoplastic phenotype typical of both monoclonal B-cell lymphocytosis and chronic lymphocytic leukemia.

Indexed as

MutationBiomarkers, TumorB-LymphocytesCohort StudiesDisease ProgressionGenomicsHumansLeukemia, Lymphocytic, Chronic, B-CellLymphocytosisPhenotypePrognosisWhole Genome SequencingBiomarkers, Tumor

Identifiers

PMID29449433
PMCPMC5927998
OpenAlexW2789482194

What OpenQuestion holds

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Registered trials

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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 OpenQuestion graph.