Evidence map›Paper›PMID 26551667›Full record

ArticleNature genetics2015

The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome.

Ana Carolina da Silva Almeida, Francesco Abate, Hossein Khiabanian, Estela Martinez-Escala, Joan Guitart, Cornelis P Tensen, Maarten H Vermeer, Raul Rabadan, Adolfo Ferrando, Teresa Palomero

Open access · greenAbstract readComparative Study
In one paragraph

Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 222 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
222citing papers in PubMed, 6 pooled it
35.3field-weighted citation impact, top 1% 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

222 citing papers in PubMed, 6 syntheses or guidelines pooled it, 370 citations in OpenAlex.

  1. A genetic profiling guideline to support diagnosis and clinical management of lymphomas.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024
    Guideline
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  4. The Progenetix oncogenomic resource in 2021.Database : the journal of biological databases and curation · 2021
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162 more citing papers are in PubMed but not listed here.

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

10 authors at 4 institutions in 2 countries.

Ana Carolina da Silva AlmeidaInstitute for Cancer Genetics, Columbia University, New York, New York, USA.
Francesco AbateDepartment of Biomedical Informatics, Columbia University, New York, New York, USA.
Hossein KhiabanianDepartment of Biomedical Informatics, Columbia University, New York, New York, USA.
Estela Martinez-EscalaDepartment of Dermatopathology, Northwestern Medical Faculty Foundation, Chicago, Illinois, USA.
Joan GuitartDepartment of Dermatopathology, Northwestern Medical Faculty Foundation, Chicago, Illinois, USA.
Cornelis P TensenDepartment of Dermatology, Leiden University Medical Center, Leiden, the Netherlands.
Maarten H VermeerDepartment of Dermatology, Leiden University Medical Center, Leiden, the Netherlands.
Raul RabadanDepartment of Biomedical Informatics, Columbia University, New York, New York, USA.
Adolfo FerrandoInstitute for Cancer Genetics, Columbia University, New York, New York, USA.
Teresa PalomeroInstitute for Cancer Genetics, Columbia University, New York, New York, USA.
Columbia University · USLeiden University Medical Center · NLNorthwestern Medical Faculty Foundation · USCancer Genetics (United States) · US

Funding

Tumor Environment and Metastasis (TEAM) Research ProgramP30CA060553 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Daniela E Matei · 1993 to 2026
$153.9M
The role of RHOA G17V mutation in peripheral t-cell lymphomasR01CA197945 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PALOMERO, TERESA · 2015 to 2019
$1.8M
NCI NIH HHS P30 CA060553NCI NIH HHS R01 CA197945
6 · The paper itself

Abstract

Sézary syndrome is a leukemic and aggressive form of cutaneous T cell lymphoma (CTCL) resulting from the malignant transformation of skin-homing central memory CD4(+) T cells. Here we performed whole-exome sequencing of tumor-normal sample pairs from 25 patients with Sézary syndrome and 17 patients with other CTCLs. These analyses identified a distinctive pattern of somatic copy number alterations in Sézary syndrome, including highly prevalent chromosomal deletions involving the TP53, RB1, PTEN, DNMT3A and CDKN1B tumor suppressors. Mutation analysis identified a broad spectrum of somatic mutations in key genes involved in epigenetic regulation (TET2, CREBBP, KMT2D (MLL2), KMT2C (MLL3), BRD9, SMARCA4 and CHD3) and signaling, including MAPK1, BRAF, CARD11 and PRKG1 mutations driving increased MAPK, NF-κB and NFAT activity upon T cell receptor stimulation. Collectively, our findings provide new insights into the genetics of Sézary syndrome and CTCL and support the development of personalized therapies targeting key oncogenically activated signaling pathways for the treatment of these diseases.

Indexed as

Gene Expression Regulation, NeoplasticCase-Control StudiesChromosome DeletionDNA Mutational AnalysisEpigenesis, GeneticExomeGenetic LociGenetic MarkersHumansImmunoblottingLymphoma, T-Cell, CutaneousMutationRisk FactorsSezary SyndromeSignal TransductionSkin NeoplasmsGenetic Markers

Identifiers

PMID26551667
PMCPMC4878831
OpenAlexW2174515690

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.