Evidence map›Paper›PMID 32847629›Full record

ArticleHereditas2020

Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation.

Yun Zou, Yi Sun, Xiaojing Zeng, Yun Liu, Qingqing Cen, Hao Gu, Xiaoxi Lin, Ren Cai, Hui Chen

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Hereditas, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 46% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
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

9 authors at 3 institutions in 1 country.

Yun ZouDepartment of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China.
Yi SunDepartment of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China.
Xiaojing ZengChildren's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, China.
Yun LiuInstitutes of Biomedical Sciences, Fudan University, Shanghai, PR China.
Qingqing CenDepartment of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China.
Hao GuDepartment of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China.
Xiaoxi LinDepartment of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China. linxiaoxi@126.com.
Ren CaiDepartment of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China. DrRenCai@gmail.com.ORCID http://orcid.org/0000-0002-6025-0170
Hui ChenDepartment of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China. chenhui9801640@163.com.
Shanghai Jiao Tong University · CNChildren's Hospital of Zhejiang University · CNFudan University · CN

Funding

Clinical Research Plan of SHDC 16CR1007AClinical Research Program of 9th People's Hospital, Shanghai Jiao Tong University School of Medicine JYLJ001Clinical Research Project of Multi-Disciplinary Team, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine 201701001
6 · The paper itself

Abstract

Congenital melanocytic nevus (CMN) represent a benign proliferative skin disease in the epidermis and dermis. CMN are historically known to be associated with activating NRAS or BRAF mutations. Melanoma frequently harbors the BRAF p.Val600Glu mutation, which is also commonly found in benign nevi. A recent study reported mutation of MAP2K1, a downstream effector of the RAS-RAF-MEK pathway, in melanoma with an overall frequency of 8%. Later, in 2019, Jansen P detected one activating MAP2K1 mutation in acral nevi. However, it is unknown whether MAP2K1 mutations are common in CMN, and how MAP2K1 contributes to the pathogenesis of CMN remains to be determined.In this study, we report one patient clinically and histologically diagnosed with CMN, with the MAP2K1 germline mutation and a BRAF p.Val600Glu somatic hit in the lesion. To the best of our knowledge, this is the first report of the coexistence of mutated BRAF and MAP2K1 in CMN, which may suggest that MAP2K1 mutations contribute to the occurrence and development of nevus expanding our knowledge of the genetics of CMN.

Indexed as

Germ-Line MutationMutationBiopsyChildDNA Mutational AnalysisFemaleHigh-Throughput Nucleotide SequencingHumansImmunohistochemistryMagnetic Resonance ImagingMAP Kinase Kinase 1Nevus, PigmentedProto-Oncogene Proteins B-rafSymptom AssessmentBRAF protein, humanMAP2K1 protein, humanMAP Kinase Kinase 1Proto-Oncogene Proteins B-raf

Identifiers

PMID32847629
PMCPMC7449081
OpenAlexW3080441919

What OpenQuestion holds

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LicenceCC BY
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.