Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors (eg. Lynch Syndrome, MTS)

abstract

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Refers To

• Journal Based CME Instructions and Information

• Journal of the American Academy of Dermatology, Volume 74, Issue 3, March 2016, Page A42
• Journal of the American Academy of Dermatology, Volume 74, Issue 3, March 2016, Pages 452-453

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Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Many of the syndromes are also associated with extracutaneous manifestations, including internal malignancies; therefore, most require a multidisciplinary management approach with a medical geneticist. Finally, dermatologists play a critical role in the diagnosis and management of these conditions, because cutaneous findings are often the presenting manifestations of disease.

Key words

• Bloom syndrome;
• dyskeratosis congenita;
• genetic testing;
• Gorlin syndrome;
• Muir–Torre syndrome;
• nonmelanoma skin cancer;
• oculocutaneous albinism;
• Rothmund–Thomson syndrome;
• Werner syndrome

Abbreviations used

• 5-FU, 5-fluorouracil;
• ADA1, adenosine deaminase 1;
• ADA-SCID, adenosine deaminase severe combined immunodeficiency;
• BCC, basal cell carcinoma;
• BCNS, basal cell nevus syndrome;
• BDCS, Bazex-Dupré-Christol syndrome;
• BLM/RECQL3, Bloom syndrome, RecQ helicase-like;
• C10Orf11, chromosome 10 open reading frame 11;
• C16Orf57, chromosome 16 open reading frame 57;
• DFSP, dermatofibrosarcoma protuberans;
• DC, dyskeratosis congenita;
• EV, epidermodysplasia verruciformis;
• EVER1, epidermodysplasia verruciformis 1;
• EVER2, epidermodysplasia verruciformis 2;
• HNPCC, hereditary nonpolyposis colon cancer;
• HPV, human papillomavirus;
• IHC, immunohistochemistry;
• MMR, mismatch repair;
• MSI, microsatellite instability;
• MTS, Muir–Torre syndrome;
• MSSE, multiple self-healing squamous epithelioma;
• MLH1, MutL homolog 1;
• MSH2, MutS homolog 2;
• MSH6, MutS homolog 6;
• NK, natural killer;
• NMSC, nonmelanoma skin cancer;
• OCA, oculocutaneous albinism;
• OCA2, oculocutaneous albinism 2;
• PTCH1, patched1;
• PTCH2, patched2;
• PMS2, postmeiotic segregation increased 2;
• RECQL4, RecQ protein-like 4;
• RTS, Rothmund–Thomson syndrome;
• SMO, smoothened;
• SLC24A5, solute carrier family 24, member 5;
• SLC45A2, solute carrier family 45, member 2;
• SHH, sonic hedgehog;
• SCC, squamous cell carcinoma;
• SUFU, suppressor of fused gene;
• TGFBR1, transforming growth factor beta receptor 1;
• TYR, tyrosinase;
• TYRP1, tyrosinase-related protein 1;
• UVR, ultraviolet radiation;
• WRN/RECQL2, Werner syndrome, RecQ helicase-like;
• XP, xeroderma pigmentosum