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Multiple cutaneous papillomas and carcinomas that develop spontaneously in a mouse mutant, the repeated epilation
Abstract:
After a chance observation that multiple cutaneous papillomas and squamous cell carcinomas occurred in 2 adult mice heterozygous for the repeated epilation gene Er, we surveyed a panel of 10 +/+ (wild type) and 30 Er/+ (heterozygous) mice from birth to over 2 years of age. Homozygous Er/Er mice could not be included since their defect is lethal at birth. Whereas no cutaneous tumors developed in the +/+ mice, 20 of the Er/+ mice, males and females, had developed 1-5 cutaneous papillomas and at least 1 cutaneous invasive squamous cell carcinoma by 2 years of age. No lesions were seen in mice younger than 6 months old. Although almost all Er/+ mice died with their tumor burden, no metastases have yet been proven histologically. The Er/+ mouse should serve as a useful model for the exploration of genetic factors in cutaneous squamous cell carcinomas in humans.
Insights
Mice with a mutation in the repeated epilation gene (Er/+) developed skin tumors, including papillomas and squamous cell carcinomas. This finding suggests the Er/+ mouse is a valuable model for studying human skin cancer genetics.
Area of Science:
- Genetics
- Dermatology
- Oncology
Background:
- Cutaneous papillomas and squamous cell carcinomas are common skin neoplasms.
- Genetic factors play a significant role in the development of skin cancers.
- The repeated epilation (Er) gene's role in tumorigenesis is not well understood.
Purpose of the Study:
- To investigate the role of the repeated epilation (Er) gene in the development of cutaneous tumors.
- To establish a mouse model for studying genetic factors in squamous cell carcinoma.
Main Methods:
- A cohort of 10 wild-type (+/+) and 30 heterozygous (Er/+) mice were observed from birth to over 2 years of age.
- Tumor development, including papillomas and squamous cell carcinomas, was monitored.
- Homozygous Er/Er mice were excluded due to embryonic lethality.
Main Results:
- No cutaneous tumors developed in wild-type (+/+) mice.
- Twenty out of 30 (Er/+) mice developed 1-5 cutaneous papillomas and at least one invasive squamous cell carcinoma by 2 years of age.
- Tumors were first observed in mice older than 6 months; no metastases were histologically confirmed.
Conclusions:
- Heterozygous mice for the repeated epilation (Er) gene spontaneously develop cutaneous squamous cell carcinomas.
- The Er/+ mouse model is suitable for exploring genetic contributions to human squamous cell carcinoma.
- Further research is warranted to elucidate the specific genetic mechanisms involved.