Evidence map›Paper›PMID 27057633›Full record

ArticleOncotarget2016

Genetic profile of GNAQ-mutated blue melanocytic neoplasms reveals mutations in genes linked to genomic instability and the PI3K pathway.

Mileidys Pérez-Alea, Ana Vivancos, Ginevra Caratú, Judit Matito, Berta Ferrer, Javier Hernandez-Losa, Javier Cortés, Eva Muñoz, Vicente Garcia-Patos, Juan A Recio

Open access · diamondAbstract read
In one paragraph

Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.6field-weighted citation impact, top 15% 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

10 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. SF3B1 and BAP1 mutations in blue nevus-like melanoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017
    Article
  10. Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017
    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

10 authors at 3 institutions in 1 country.

Mileidys Pérez-AleaBiomedical Research in Melanoma-Animal Models and Cancer Laboratory, Oncology Program, Vall d'Hebron Research institute, VHIR-Vall d'Hebron Hospital, Barcelona-UAB 08035, Barcelona, Spain.
Ana VivancosCancer Genomics Group Translational Research Program, Vall d'Hebron Institute of Oncology-VHIO, Vall d'Hebron Hospital, Barcelona-UAB, Barcelona 08035, Spain.
Ginevra CaratúCancer Genomics Group Translational Research Program, Vall d'Hebron Institute of Oncology-VHIO, Vall d'Hebron Hospital, Barcelona-UAB, Barcelona 08035, Spain.
Judit MatitoCancer Genomics Group Translational Research Program, Vall d'Hebron Institute of Oncology-VHIO, Vall d'Hebron Hospital, Barcelona-UAB, Barcelona 08035, Spain.
Berta FerrerBiomedical Research in Melanoma-Animal Models and Cancer Laboratory, Oncology Program, Vall d'Hebron Research institute, VHIR-Vall d'Hebron Hospital, Barcelona-UAB 08035, Barcelona, Spain.
Javier Hernandez-LosaAnatomy Pathology Department, Vall d'Hebron Hospital, Barcelona-UAB, Barcelona 08035, Spain.
Javier CortésClinical Oncology Program, Vall d'Hebron Institute of Oncology-VHIO, Vall d'Hebron Hospital, Barcelona-UAB, Barcelona 08035, Spain.
Eva MuñozBiomedical Research in Melanoma-Animal Models and Cancer Laboratory, Oncology Program, Vall d'Hebron Research institute, VHIR-Vall d'Hebron Hospital, Barcelona-UAB 08035, Barcelona, Spain.
Vicente Garcia-PatosBiomedical Research in Melanoma-Animal Models and Cancer Laboratory, Oncology Program, Vall d'Hebron Research institute, VHIR-Vall d'Hebron Hospital, Barcelona-UAB 08035, Barcelona, Spain.
Juan A RecioBiomedical Research in Melanoma-Animal Models and Cancer Laboratory, Oncology Program, Vall d'Hebron Research institute, VHIR-Vall d'Hebron Hospital, Barcelona-UAB 08035, Barcelona, Spain.
Vall d'Hebron Institute of OncologyVall d'Hebron Hospital Universitari · ESVall d'Hebron Institut de Recerca · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Melanomas arising in association with a common or cellular blue nevus (MABN) comprise a relatively rare and heterogeneous group of lethal melanomas. Although GNAQ is known to be frequently mutated in common blue nevus, cellular blue nevus (CBN) and MABN and these malignant lesions present gross chromosome alterations harboring BAP1 mutations, little is known about other mutations that contribute to the development and progression of these neoplasms. Thus, the genetic profile of these tumors is important to increase the number of intervention and treatment modalities. Here, we characterized and genetically profiled two different sections of a rare MABN and two CBNs from three different patients. All of the samples harbored a GNAQ mutation, exhibited RAS pathway activation, and harbored additional mutations in genes associated with genomic instability and epigenetic regulation (KMT2C, FANCD2, ATR, ATRX, NBN, ERCC2, SETD2, and WHSC1). In addition, all neoplasms harbored mutations that directly or indirectly affected either the regulation or activation of the PI3K pathway (PIK3CA, NF1, INPP5B and GSK3B). Our results not only help understand the genetic complexity of these blue melanocytic lesions but provide a rationale to use the combination of PI3K/MTOR and MEK1/2 inhibitors against these types of tumors.

Indexed as

DNA Mutational AnalysisGenomic InstabilityGTP-Binding Protein alpha Subunits, Gq-G11HumansMutationNevus, BluePhosphatidylinositol 3-KinasesSkin NeoplasmsGNAQ protein, humanGTP-Binding Protein alpha Subunits, Gq-G11Phosphatidylinositol 3-KinasesBAP1blue nevusgenetic profileGNAQmelanoma

Identifiers

PMID27057633
PMCPMC5053711
OpenAlexW2339749044

What OpenQuestion holds

Textmetadata
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.