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Karl D. Lewis, MD


Rare Genetic Disorder and Risk for Skin Cancer: More Vigilant Lifetime Surveillance Needed?

By: Joshua D. Madera, MS
Posted: Wednesday, May 11, 2022

For patients with the rare genetic disorder known as Gorlin syndrome, multidisciplinary vigilance should be implemented beginning in childhood to improve earlier detection of skeletal anomalies, according to a study published in the Journal of Clinical Oncology. Skeletal anomalies in this patient population have been linked to an increased risk of developing basal cell carcinoma and other neoplastic growths; therefore, increased surveillance may improve outcomes, according to Joyce M.C. Teng, MD, PhD, of Stanford University School of Medicine, Stanford, California, and colleagues. 

“In light of these findings, it may be appropriate to re-evaluate current clinical practice, screening and surveillance guidelines, and patient education on the basis of risk stratification related to skeletal anomaly burden, especially among affected pediatric populations,” the study authors indicated.

From 2014 to 2021, a total of 248 patients with Gorlin syndrome were recruited from Stanford University (n = 47), the Children’s Hospital Oakland Research Institute (n = 101), and the Gorlin Syndrome Alliance (n = 93). Of this patient population, 40 patients had confirmed genetic testing results available for genotype-phenotype analyses.

The study findings revealed an increased number of lifetime basal cell carcinomas in patients with skeletal anomalies as compared with patients without such skeletal anomalies. Patients with two or more skeletal anomalies had 2.45 increased odds of advanced or metastatic basal cell carcinoma. In addition, there were 5.00 and 2.79 increased odds of developing keratocystic odontogenic tumors and ovarian fibromas in patients with multiple skeletal anomalies, respectively. Furthermore, analysis of the genotype-phenotype relationship revealed a hereditary association with missense and in-frame mutations as compared with severe deleterious mutations. Moreover, visualization using heat maps showed that patients with more deleterious mutations were more likely to have an increased burden of skeletal anomalies and basal cell carcinomas.

Disclosure: For full disclosures of the study authors, visit

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