A new study indicates that skin neoplasms commonly occur in people with Lynch syndrome (LS), and may warrant dermatologic surveillance in this population. Study results were published in the Journal of the American Academy of Dermatology.

“We found that 21% of individuals in our cohort had a history of skin neoplasia, thereby making skin neoplasms the third most common form of malignancy/neoplasm in these LS carriers, behind colorectal and endometrial cancers,” the study investigators wrote in their report.

The researchers conducting this retrospective, single-institution observational study aimed to determine clinical factors that may be linked to the onset of skin neoplasms in people with LS. They considered carriers of LS to have confirmed pathogenic/likely pathogenic germline variants (PGVs) of MLH1, MSH2, MSH6, PMS2, or EPCAM genes. The researchers evaluated clinical characteristics and possible associations with skin neoplasia in LS carriers. Carriers included in the analysis were at least 18 years old, and they were receiving clinical LS care and entered into a cancer genetics registry at the Dana-Farber Cancer Institute in Boston, Massachusetts, to which they were prospectively recruited between January 2000 and March 2020.

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From a total of 607 LS carriers, 9.2% of the population had LS-associated skin neoplasia. Also, 15.0% were considered to have skin neoplasia not related to LS. More than half of the population (58.2%) had evidence of previous dermatologic evaluation. Among 128 patients with skin neoplasms, 29.7% did not have a history of a visceral malignancy related to LS.

Multiple patient factors were found to be significantly linked to LS-associated skin neoplasms, based on multivariable analysis. These included male sex, increasing age, race, a personal history of skin neoplasms not related to LS, and the presence of PGVs of MLH1 or MSH2/EPCAM.

Analyses also identified factors that appeared significantly linked to skin neoplasms that were considered not to be associated with LS. These included age, a personal history of LS-related skin neoplasms, and the number of first- and second-degree relatives who have had non–LS-associated skin neoplasms.

The investigators pointed out that there is not currently a standard of care for dermatologic surveillance in LS carriers. “These data from [more than] 600 LS carriers demonstrate that certain carriers may be at particular risk for developing LS-associated skin neoplasms (eg, males, MLH1 and EPCAM/MSH2 PGV carriers, personal history of non-LS-associated skin neoplasms) and thus likely to benefit from regular dermatologic surveillance,” they wrote in their report. Because some LS carriers showed skin neoplasms by age 25 years, they suggested that surveillance could begin in early adulthood.

Disclosures: Some authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of disclosures.


Zhong CS, Horiguchi M, Uno H, et al. Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort. J Am Acad Dermatol. Published online February 9, 2023. doi:10.1016/j.jaad.2023.01.035