Tumor predisposition: what's the skin got to do with it?

Area of Science:

• Dermatology
• Genetics
• Oncology

Background:

• Skin findings are critical indicators for various tumor predisposition syndromes.
• Early identification and genetic counseling can significantly alter disease progression.

Purpose of the Study:

• To review tumor predisposition syndromes with recent skin findings.
• To guide genetic testing and management strategies based on cutaneous manifestations.

Main Methods:

• Literature review of recent studies on tumor predisposition syndromes.
• Analysis of characteristic skin findings and their association with genetic variants.
• Synthesis of current knowledge on diagnosis and management.

Main Results:

• Atypical café au lait macules (CALMs) are linked to constitutional mismatch repair deficiency and Fanconi anemia.
• POT1 and BAP1 variants are associated with melanoma predisposition and Spitzoid tumors.
• Somatic variants can cause mosaic forms of nevoid basal cell carcinoma and Peutz-Jeghers syndrome.
• PTEN hamartoma syndrome increases melanoma risk, potentially in adulthood.

Conclusions:

• Cutaneous manifestations are key diagnostic aids for tumor predisposition syndromes.
• Early photoprotection is vital for mitigating skin cancer risk.
• Surveillance guidelines improve early tumor detection and management.