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

Xeroderma pigmentosum variant associated with multiple cancers.

K Kuwamoto1, H Miyauchi-Hashimoto, T Isei

  • 1Department of Dermatology, Kansai Medical University, Osaka, Japan.

Photodermatology, Photoimmunology & Photomedicine
|July 15, 1999
PubMed
Summary

This study reports a xeroderma pigmentosum (XP) variant patient with multiple skin and internal cancers. Despite normal UV testing, his cells showed UV sensitivity, suggesting a unique XP variant subtype.

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

Probing Superatomic Orbitals of Sc-Doped and Undoped Silver Cluster Anions via Photoelectron Angular Anisotropy.

The journal of physical chemistry letters·2023
Same author

Anti-PD-1 antibody monotherapy versus anti-PD-1 plus anti-CTLA-4 combination therapy as first-line immunotherapy in unresectable or metastatic mucosal melanoma: a retrospective, multicenter study of 329 Japanese cases (JMAC study).

ESMO open·2021
Same author

Anti-PD1 checkpoint inhibitor therapy in acral melanoma: a multicenter study of 193 Japanese patients.

Annals of oncology : official journal of the European Society for Medical Oncology·2020
Same author

Cyclins in aspergilli: Phylogenetic and functional analyses of group I cyclins.

Studies in mycology·2018
Same author

Preventive effect of renin-angiotensin system inhibitors on new-onset atrial fibrillation in hypertensive patients: a propensity score matching analysis.

Journal of human hypertension·2016
Same author

Excited-state dynamics of furan studied by sub-20-fs time-resolved photoelectron imaging using 159-nm pulses.

The Journal of chemical physics·2015

Area of Science:

  • Genetics
  • Oncology
  • Dermatology

Background:

  • Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by increased sensitivity to ultraviolet (UV) radiation.
  • XP variant (XP-V) is a subtype with normal DNA repair synthesis but increased susceptibility to UV-induced damage.
  • Patients with XP have a significantly higher risk of developing skin cancers.

Observation:

  • A 62-year-old Japanese male with XP variant presented with multiple basal cell carcinomas, squamous cell carcinoma, malignant melanoma, and an atypical carcinoid tumor.
  • In vivo phototesting revealed normal responses to ultraviolet B (UVB), with no alterations in the minimal erythema dose or erythema peaking.
  • Skin fibroblasts displayed heightened sensitivity to UV irradiation, yet demonstrated normal unscheduled DNA and RNA synthesis.
  • Complementation analysis through cell fusion with established XP groups (A, C, D, E, F, G) indicated that this patient's cells did not complement with any of these groups, suggesting a distinct genetic defect within the XP-V category.

Related Experiment Videos

Findings:

  • The patient's clinical presentation and cellular analysis indicate a unique form of XP variant.
  • Despite normal DNA repair synthesis, the increased UV sensitivity and cancer predisposition highlight the complexity of XP variant.
  • The presence of internal malignancy (atypical carcinoid) alongside numerous skin cancers is a significant finding.

Implications:

  • This case underscores the critical need for vigilant monitoring and early cancer screening in older XP variant patients.
  • The findings suggest that certain XP variant subtypes may carry a higher risk of internal malignancies, expanding the known spectrum of XP-related cancers.
  • Further research into the specific genetic defect in this XP variant case could elucidate novel DNA repair pathways and inform personalized cancer prevention strategies.