Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Microsatellite instability in keratoacanthoma

K C Halling1, R Honchel, M R Pittelkow

  • 1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

Cancer
|November 15, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Evaluating the potential cost savings from inpatient dermatology consultations.

Journal of the European Academy of Dermatology and Venereology : JEADV·2021
Same author

Treatment of granuloma annulare and related granulomatous diseases with sulphasalazine: a series of 16 cases.

Journal of the European Academy of Dermatology and Venereology : JEADV·2020
Same author

Regression of mycosis fungoides with large-cell transformation following skin biopsy.

Journal of the European Academy of Dermatology and Venereology : JEADV·2019
Same author

Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set.

Nature communications·2015
Same author

Fluorescence in situ hybridization identifies high risk Barrett's patients likely to develop esophageal adenocarcinoma.

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus·2015
Same author

Aberrant MEK5/ERK5 signalling contributes to human colon cancer progression via NF-κB activation.

Cell death & disease·2015

Microsatellite instability (MIN), a sign of defective DNA repair, is found in some keratoacanthomas (KAs). This suggests a link between MIN in KAs and hereditary nonpolyposis colorectal cancer (HNPCC) or Muir-Torre syndrome (MTS).

Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Hereditary nonpolyposis colorectal cancer (HNPCC) and Muir-Torre syndrome (MTS) are associated with microsatellite instability (MIN).
  • MIN results from mutations inactivating DNA mismatch repair genes.
  • Defective DNA mismatch repair is implicated in the pathogenesis of keratoacanthomas (KAs) in MTS patients.

Purpose of the Study:

  • To investigate the presence of MIN in keratoacanthomas (KAs).
  • To explore the association between MIN in KAs and hereditary nonpolyposis colorectal cancer (HNPCC) or Muir-Torre syndrome (MTS).

Main Methods:

  • Examined 53 randomly selected KAs and 12 additional KAs with colorectal carcinoma for MIN at six loci.
  • Analyzed KAs for mutations in the hMSH2 gene.

Related Experiment Videos

Main Results:

  • Six of 53 KAs exhibited MIN at two or more loci; one patient had HNPCC, another had MTS.
  • Two KAs without MIN were from patients with colon tumors showing widespread MIN, one with MTS.
  • A 2-base pair deletion in the hMSH2 gene was identified in one MIN-positive KA.

Conclusions:

  • Defective DNA mismatch repair contributes to tumorigenesis in a subset of KAs.
  • The presence of MIN in KAs or co-occurrence with colorectal carcinoma suggests potential HNPCC or MTS.