An Orbital Malignant Melanoma Arising in Cellular Blue Nevus in a Patient with Nevus of Ota

Abstract

Melanomas arising from orbital melanocytic proliferations are exceedingly rare. Many questions remain regarding their development and malignant transformation. We report on a 45-year-old Caucasian woman with a nevus of Ota that presented with visual disturbances involving her right eye and was found to have a biopsy-proven cellular blue nevus in the orbital space. Five years later, she presented with proptosis and worsening symptoms. Biopsy at that time showed a cellular blue nevus with areas of melanoma. We conclude that patients with a nevus of Ota or an orbital cellular blue nevus, particularly Caucasians, should be monitored for ocular/orbital involvement and followed closely for signs of rapid growth. There may be a progressive evolution to melanoma from a blue nevus.

Oral squamous cell carcinoma involving a blue cell nevus in the palate

“…Immunohistochemically, the neoplastic cells in melanoma present strong immunoexpression for the anti-S-100, anti-HMB-45 and anti-Melan-A antibodies 14 , while the nevus cells exhibit strong immunoexpression for the anti-S-100 and anti-Melan-A antibodies, and weak immunoexpression for the anti-HMB-45 antibody 15 .…”

“…The anti-S-100 antibody is immunoexpressed by cells of neural crest origin, such as melanocytes and nevus cells, while the anti-Melan-A or anti-MART-1, are antigens responsible for the recognition of melanocytes by the T lymphocytes. In turn, the anti-HMB-45 (Human Melanoma Black-45) antibody is a specific marker for the protein of melanoma 7,15 .…”

Nevus of Ota with Intraoral Involvement: Case Report and Review of the Literature

“…Certain conditions have been associated to the presence of nevus of Ota, including Sturge-Weber syndrome, Klippel-Trenaunay syndrome, neurofibromatosis, multiple hemangioma, cerebrospinal degeneration, glaucoma, and ipsilateral deafness and congenital cataracts [5,13,19,24]. Furthermore, more than 50 cases of melanoma developing on a nevus of Ota have been described [20,25]. Several of these cases occur intracranially, most of them are congenital, and some are accompanied by the presence of hyperpigmented macules in the intraoral mucosa [18,26].…”

“…Because of its rarity, epidemiologic studies that describe the malignant transformation of nevi of Ota are lacking. Nevertheless, it seems that malignant transformation is more common in females (male-female ratio 1:7.2); when mucosa is involved (mainly ocular mucosa) [18], and in Caucasians [18,25], amongst who the risk of developing malignant melanoma, although rarely observed [2], is 35 times greater [18] than in other racial groups. Compared with cutaneous and ocular melanoma, oral malignant melanoma is associated with lower rates of 5-year survival and mutations are less common [5]; GNAQ/GNA11 p.Q209L mutation has been found in 77% of primary uveal melanomas, but it is rare in oral mucosal melanoma.…”

“…Although cancer rarely develops within nevi of Ota, the percentage of malignant transformation observed when the oral mucosa is involved should be considered when evaluating subjects. This risk should not be underestimated, and histopathological analysis is advised to confirm the diagnosis and rule out melanoma [18,25]. In the presence of malignant melanoma, the excision of the entire intraoral lesion (nevi of Ota) is recommended.…”