Evidence map›Paper›PMID 31320640›Full record

ArticleNature communications2019

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Felicity Newell, Yan Kong, James S Wilmott, Peter A Johansson, Peter M Ferguson, Chuanliang Cui, Zhongwu Li, Stephen H Kazakoff, Hazel Burke, Tristan J Dodds and 34 more

Registry-linked trialOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06952400 (T1622 The Registry Study of Genetic Alterations of Melanoma in Taiwan), which is not on this map. Cited by 174 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
174citing papers in PubMed, 3 pooled it
17.1field-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.

NCT06952400 recruitingnot on this mapstarted 2022, after this paper: background citation

T1622 The Registry Study of Genetic Alterations of Melanoma in Taiwan

TypeobservationalSponsorNational Health Research Institutes, TaiwanRan2022 to 2030Enrolled250ConditionsPrimary Melanoma of the Extremity
3 · Its place in the literature

Who cites it

174 citing papers in PubMed, 3 syntheses or guidelines pooled it, 326 citations in OpenAlex.

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  14. Cellular immunotherapy in melanoma: the next frontier in cancer treatment.Journal of experimental & clinical cancer research : CR · 2026
    Review
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114 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

44 authors at 8 institutions in 6 countries.

Felicity NewellQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Yan KongDepartment of Renal Cancer and Melanoma, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, Peking University Cancer Hospital & Institute, Beijing, 100142, China.
James S WilmottMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
Peter A JohanssonQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Peter M FergusonMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.ORCID http://orcid.org/0000-0002-8335-0406
Chuanliang CuiDepartment of Renal Cancer and Melanoma, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, Peking University Cancer Hospital & Institute, Beijing, 100142, China.
Zhongwu LiDepartment of Renal Cancer and Melanoma, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, Peking University Cancer Hospital & Institute, Beijing, 100142, China.
Stephen H KazakoffQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Hazel BurkeSydney Medical School, The University of Sydney, Sydney, NSW, 2006, Australia.
Tristan J DoddsMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
Ann-Marie PatchQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.ORCID http://orcid.org/0000-0001-6121-4019
Katia NonesQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Varsha TembeCentre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Westmead, NSW, 2145, Australia.
Ping ShangSydney Medical School, The University of Sydney, Sydney, NSW, 2006, Australia.
Louise van der WeydenExperimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.
Kim WongExperimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.ORCID http://orcid.org/0000-0002-0984-1477
Oliver HolmesQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Serigne LoMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.ORCID http://orcid.org/0000-0001-5092-5544
Conrad LeonardQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Scott WoodQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Qinying XuQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Robert V RawsonMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
Pamela MukhopadhyayQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Reinhard DummerDermatology Clinic, University Hospital Zürich, University of Zurich, Zurich, 8091, Switzerland.
Mitchell P LevesqueDermatology Clinic, University Hospital Zürich, University of Zurich, Zurich, 8091, Switzerland.
Göran JönssonDepartment of Oncology, Clinical Sciences, Lund University, Lund, 221 85, Sweden.
Xuan WangDepartment of Renal Cancer and Melanoma, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, Peking University Cancer Hospital & Institute, Beijing, 100142, China.
Iwei YehDepartments of Dermatology and Pathology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco (UCSF), San Francisco, CA, 94143, USA.
Hong WuDepartment of Pathology, Fox Chase Cancer Center, Philadelphia, PA, 19111, USA.
Nancy JosephDepartment of Pathology, University of California, San Francisco, CA, 94143, USA.
Boris C BastianDepartments of Dermatology and Pathology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco (UCSF), San Francisco, CA, 94143, USA.ORCID http://orcid.org/0000-0003-1836-6062
Georgina V LongMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
Andrew J SpillaneMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
Kerwin F ShannonMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
John F ThompsonMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.ORCID http://orcid.org/0000-0002-2816-2496
Robyn P M SawMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
David J AdamsExperimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.
Lu SiDepartment of Renal Cancer and Melanoma, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, Peking University Cancer Hospital & Institute, Beijing, 100142, China.
John V PearsonQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Nicholas K HaywardQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Nicola WaddellQIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.
Graham J MannMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia.
Jun GuoDepartment of Renal Cancer and Melanoma, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, Peking University Cancer Hospital & Institute, Beijing, 100142, China.
Richard A ScolyerMelanoma Institute Australia, The University of Sydney, Sydney, NSW, 2065, Australia. richard.scolyer@melanoma.org.au.ORCID http://orcid.org/0000-0002-8991-0013
The University of Sydney · AUQIMR Berghofer Medical Research Institute · AUPeking University · CNUniversity of California, San Francisco · USWellcome Sanger Institute · GBUniversity of Zurich · CHFox Chase Cancer Center · USLund University · SE

Funding

Molecular and immunologic evolution of melanomas from pre-neoplastic lesionsR35CA220481 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BASTIAN, BORIS C. · 2017 to 2023
$6.3M
Cancer Research UK 14356Cancer Research UK 21717NCI NIH HHS R35 CA220481
6 · The paper itself

Abstract

Knowledge of key drivers and therapeutic targets in mucosal melanoma is limited due to the paucity of comprehensive mutation data on this rare tumor type. To better understand the genomic landscape of mucosal melanoma, here we describe whole genome sequencing analysis of 67 tumors and validation of driver gene mutations by exome sequencing of 45 tumors. Tumors have a low point mutation burden and high numbers of structural variants, including recurrent structural rearrangements targeting TERT, CDK4 and MDM2. Significantly mutated genes are NRAS, BRAF, NF1, KIT, SF3B1, TP53, SPRED1, ATRX, HLA-A and CHD8. SF3B1 mutations occur more commonly in female genital and anorectal melanomas and CTNNB1 mutations implicate a role for WNT signaling defects in the genesis of some mucosal melanomas. TERT aberrations and ATRX mutations are associated with alterations in telomere length. Mutation profiles of the majority of mucosal melanomas suggest potential susceptibility to CDK4/6 and/or MEK inhibitors.

Indexed as

Biomarkers, TumorCyclin-Dependent Kinase 4DNA Copy Number VariationsFemaleHumansMaleMelanocytesMelanomaPoint MutationProto-Oncogene Proteins c-mdm2Signal TransductionTelomeraseWhole Genome SequencingBiomarkers, TumorCDK4 protein, humanCyclin-Dependent Kinase 4MDM2 protein, humanProto-Oncogene Proteins c-mdm2TelomeraseTERT protein, human

Identifiers

PMID31320640
PMCPMC6639323
OpenAlexW2960092050

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Registered trials

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.