Which factors contribute to skin neoplasms in Lynch syndrome patients?

Individuals with Lynch syndrome (LS) often develop skin neoplasms, reports a recent study, which has identified several clinical factors that contribute to LS- and non-LS-related skin neoplasms.

To characterize the clinical factors associated with the development of skin neoplasms in LS, the authors systematically obtained data on a cohort of LS carriers (confirmed pathogenic germline variants in MLH1, MSH2, MSH6, PMS2, or EPCAM) aged ≥18 years who had clinical genetics care at Dana-Farber Cancer Institute in Boston, Massachusetts, US, from January 2000 to March 2020.

Clinical factors associated with skin neoplasia were assessed using multivariate logistic regression.

A total of 607 LS carriers were included, of whom 9.2 percent had LS-related skin neoplasia and 15.0 percent had non-LS-associated skin neoplasia. In addition, 353 (58.2 percent) carriers had documentation of prior dermatologic evaluation, while 38 out of 128 (29.7 percent) with skin neoplasms had no history of visceral LS-related malignancy.

LS-associated skin neoplasms showed a significant correlation with the following clinical factors: male sex, age, race, MLH1 pathogenic germline variants, MSH2/EPCAM pathogenic germline variants, and personal history of non-LS skin neoplasms.

On the other hand, non-LS-related skin neoplasms significantly correlated with factors such as age, number of first- and second-degree relatives with non-LS-related skin neoplasms, and personal history of LS-associated skin neoplasms.

“Regular dermatologic surveillance should be considered for all LS carriers,” the authors said.

The study was limited by its single-institution observational design and demographic homogeneity.