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Molecular Analysis of a Case of Nevus of Ota Showing Progressive Evolution to Melanoma With Intermediate Stages Resembling Cellular Blue Nevus

Gerami, Pedram MD*; Pouryazdanparast, Pedram MD; Vemula, Swapna; Bastian, Boris C MD

The American Journal of Dermatopathology: May 2010 - Volume 32 - Issue 3 - p 301-305
doi: 10.1097/DAD.0b013e3181b96db7
Extraordinary Case Report

Nevus of Ota is a variant of congenital nevus, which is morphologically paucicellular and resembles a common blue nevus. Although nevus of Ota is a risk factor for uveal melanoma in white people, the development of cutaneous melanoma within nevus of Ota is a very rare occurrence with only a few reported cases. We present a case of a long-standing nevus of Ota, with radiologic imaging demonstrating a large retro-orbital mass and a biopsy showing melanoma. The histopathology of the eye exenteration specimen illustrated various stages of melanocytic progression including areas resembling a nevus of Ota, blue nevus, cellular blue nevus, and melanoma. There was heterogeneity in the overtly malignant sections with some areas displaying expansile nodules of blander appearing spindled cells, whereas other areas were composed of epithelioid cells with higher mitotic counts and zones of necrosis. The extensive lesion also infiltrated the soft tissue and bone. We performed gene mutation analysis for GNAQ, BRAF, NRAS, and KIT and fluorescence in situ hybridization (FISH) targeting commonly altered chromosomal loci in melanoma and comparative genomic hybridization (CGH). Copy number changes typical of melanoma were identified by both FISH and CGH in the morphologically malignant areas illustrating the relationship of tumor progression and the progressive acquisition of genetic aberrations.

From the Departments of *Dermatology and †Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL; and ‡Departments of Dermatology and Pathology, and UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA.

Supported by the IDP Foundation and the Dermatology Foundation.

Reprints: Pedram Gerami, MD, Department of Dermatology, Northwestern University, 676 N. St. Clair Street, Suite 1600, Chicago, IL 60611 (e-mail:

© 2010 Lippincott Williams & Wilkins, Inc.