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Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
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Linear basal cell nevus with a novel mosaic PTCH1 mutation
Amir Hossein Saeidian1, Adam Cohen-Nowak1, Megan O'Donnell1
1Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
Experimental Dermatology
|April 17, 2020
Summary
A novel PTCH1 gene mutation causing basal cell carcinoma (BCC) in a linear pattern was identified in a patient with segmental mosaicism. This finding advances understanding of BCC development and cutaneous mosaicism.
Area of Science:
- Genetics
- Dermatology
- Oncology
Background:
- The patched tumor suppressor gene (PTCH1) is crucial for the hedgehog signaling pathway.
- Mutations in PTCH1 are linked to basal cell carcinoma (BCC) and Gorlin Syndrome.
- Linear BCCs along Blaschko lines suggest cutaneous mosaicism, but causative mutations remain unclear.
Observation:
- A 31-year-old woman presented with multiple superficial BCCs in a linear, Blaschkoid distribution without Gorlin Syndrome features.
- Genomic analysis revealed a novel heterozygous PTCH1 mutation (c.2336-2337insGGTAGGA) in lesional skin, absent in non-lesional skin and blood.
- The mutation was present in discrete lesion samples, supporting segmental mosaicism.
Findings:
- Whole-exome sequencing identified a novel PTCH1 mutation in a patient with linear BCCs.
- The mutation was specific to lesional skin, indicating a somatic mutation event.
- Findings suggest PTCH1 mutations can cause BCC through segmental mosaicism in individuals without Gorlin Syndrome.
Implications:
- This case provides strong evidence for PTCH1 mutations causing BCC via segmental mosaicism.
- Understanding mosaicism mechanisms is vital for diagnosing and managing rare skin cancers.
- Further research into PTCH1 mutations and mosaicism could reveal new therapeutic targets for BCC.
