Evidence map›Paper›PMID 24483290›Full record

ArticlePigment cell & melanoma research2014

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Taro Masaki, Yun Wang, John J DiGiovanna, Sikandar G Khan, Mark Raffeld, Senda Beltaifa, Thomas J Hornyak, Thomas N Darling, Chyi-Chia R Lee, Kenneth H Kraemer

Open access · greenAbstract read
In one paragraph

Article in Pigment cell & melanoma research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
3.0field-weighted citation impact, top 7% 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

18 citing papers in PubMed, 41 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Xeroderma Pigmentosum: A Model for Human Premature Aging.The Journal of investigative dermatology · 2021
    Review
  5. Imaging of pediatric cutaneous melanoma.Pediatric radiology · 2019
    Review
  6. Review
  7. Review
  8. Review
  9. Article
  10. Review
  11. Review
  12. Article
  13. Xeroderma Pigmentosum.Head and neck pathology · 2016
    Review
  14. Phytochemicals for the Management of Melanoma.Mini reviews in medicinal chemistry · 2016
    Review
  15. Review
  16. Article
  17. Review
  18. UV signature mutations.Photochemistry and photobiology
    Review
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 5 institutions in 3 countries.

Taro MasakiDermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA; Division of Dermatology, Graduate School of Medicine, Kobe University, Kobe, Japan.
Yun Wang
John J DiGiovanna
Sikandar G Khan
Mark Raffeld
Senda Beltaifa
Thomas J Hornyak
Thomas N Darling
Chyi-Chia R Lee
Kenneth H Kraemer
Center for Cancer Research · USNational Cancer Institute · USKobe University · JPPeking University First Hospital · CNUniformed Services University of the Health Sciences · US

Funding

DNA Repair in Human Cancer-Prone Genetic DiseasesZIABC004517 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI KRAEMER, KENNETH H · 2009 to 2024
$26.5M
Immunohistochemistry Core LaboratoryZICBC011087 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI RAFFELD, MARK · 2009 to 2015
$7.4M
Intramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

We examined nevi and melanomas in 10 xeroderma pigmentosum (XP) patients with defective DNA repair. The lesions had a lentiginous appearance with markedly increased numbers of melanocytes. Using laser capture microdissection, we performed DNA sequencing of 18 benign and atypical nevi and 75 melanomas (melanoma in situ and invasive melanomas). The nevi had a similar high frequency of PTEN mutations as melanomas [61% (11/18) versus 53% (39/73)]. Both had a very high proportion of UV-type mutations (occurring at adjacent pyrimidines) [91% (10/11) versus 92% (36/39)]. In contrast to melanomas in the general population, the frequency of BRAF mutations (11%, 7/61), NRAS mutations (21%, 13/62), and KIT mutations (21%, 6/28) in XP melanomas was lower than for PTEN. Phospho-S6 immunostaining indicated activation of the mTOR pathway in the atypical nevi and melanomas. Thus, the clinical and histological appearances and the molecular pathology of these UV-related XP nevi and melanomas were different from nevi and melanomas in the general population.

Indexed as

MutationAdultDermoscopyDNA Mutational AnalysisDNA, NeoplasmFemaleGTP PhosphohydrolasesHumansLoss of HeterozygosityMaleMelanomaMembrane ProteinsMiddle AgedNeoplasm ProteinsNeoplasms, Radiation-InducedNevus, PigmentedBRAF protein, humanDNA, NeoplasmGTP PhosphohydrolasesMembrane ProteinsMTOR protein, humanNeoplasm ProteinsNRAS protein, humanProto-Oncogene Proteins B-rafProto-Oncogene Proteins c-kitPTEN PhosphohydrolasePTEN protein, humanTOR Serine-Threonine KinasesDNA repairmelanomamTORneviPTENUV carcinogenesisxeroderma pigmentosum

Identifiers

PMID24483290
PMCPMC6309892
OpenAlexW2138959658

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.