Published in

Massachusetts Medical Society, New England Journal of Medicine, 20(365), p. 1940-1942, 2011

DOI: 10.1056/nejmc1109381

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HRAS Mutation Mosaicism Causing Urothelial Cancer and Epidermal Nevus

Journal article published in 2011 by Christian Hafner, Agusti Toll, Francisco X. Real ORCID
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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Abstract

To the Editor: Mosaicism of an oncogenic AKT1 mutation causes Proteus syndrome, which is associated with epidermal nevi and an increased risk of cancer.(1) The occurrence of oncogenic mutations in mosaicism may increase a person's risk for malignant conditions. Somatic RAS mutations occur in 30% of tumors; germline mutations have been identified in rare developmental disorders, such as HRAS mutations in the Costello syndrome.(2) Here we report on a patient with multiple urothelial tumors reflecting mosaicism of an oncogenic HRAS mutation. A 49-year-old man presented with a widespread congenital epidermal nevus (Figure 1). When he was 19 years of age, . . .