From sporadic atypical nevi to familial melanoma: Risk analysis for melanoma in sporadic atypical nevus patients - 12/08/11

Doi : 10.1016/j.jaad.2007.01.010

Femke A. de Snoo, MD ^a,^⁎ , Marije W. Kroon, MSc ^b, Wilma Bergman, MD ^b, Jeanet A.C. ter Huurne, MSc ^a, Jeanine J. Houwing-Duistermaat, PhD ^c, Leny van Mourik ^a, Dyon G.C.T.M. Snels, MD ^b, Martijn H. Breuning, MD ^a, Rein Willemze, MD ^b, Rune R. Frants, PhD ^a, Nelleke A. Gruis, PhD ^b
^a From the Departments of Human & Clinical Genetics
^b Dermatology
^c Medical Statistics, Leiden University Medical Center

Reprint requests: Femke A. de Snoo, MD, Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.

Leiden, The Netherlands

Abstract

Background

Atypical nevi (AN), present in either a familial or a sporadic setting, are strong indicators of increased melanoma risk.

Objective

To estimate the extent of this risk and the extent of reclassification of sporadic to familial cases during follow-up.

Methods

We studied 167 sporadic patients with AN (≥5). At the end of follow-up we updated the family history regarding melanoma and performed germline mutation analysis of the known melanoma susceptibility genes.

Results

We found a relative risk for melanoma of 46.1 (95% confidence interval 21.0-87.5). Six of 167 patients were carriers of a CDKN2A mutation. At the end of follow-up, 10 of 136 patients with sporadic AN reported being a member of a melanoma family.

Limitations

This study was conducted in an area with a founder mutation in many of its melanoma families; therefore the results may not be applicable to other populations.

Conclusion

We report a high relative risk of 46.1 of melanoma development in patients with sporadic AN. A significant proportion of this Dutch cohort reported additional cases in their families over time.

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