Common acquired melanocytic nevi are benign neoplasms that are composed of small uniform melanocytes and typically present as flat or slightly elevated, pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected patients developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of the BAP1 gene. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histologic similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm.

We present 14 patients with primary sinonasal melanomas (SM) identified from 1984–1997 in our archives (11/14 lateral nose, 1/14 nasal septum, 2/14 paranasal sinuses; 8M/6F, mean age 67.7 years, range 39–88 years). Survival was poor (median 9 months) with death related to extensive local disease and/or widespread hematogenous metastases. The following histological subtypes were identified in descending order: amelanotic small blue cell, pleomorphic, epithelioid, spindle cell and myxoid. High mitotic rate and vascular invasion, absence of tumor‐infiltrating lymphocytes and regression were features shared by all SM. Negative staining of B‐ and T‐cell markers, LCA, neuroendocrine markers such as NSE, chromogranin and synaptophysin, and CK‐negativity excluded olfactory neuroblastoma, small cell undifferentiated carcinoma, and lymphoma. S‐100 protein was expressed in all SM, but demonstrated variable staining intensity with areas of complete negativity. HMB45 was strongly and uniformly (>80%) expressed in all undifferentiated small blue cell SM. The pigmented SM were predominantly HMB45‐negative. The strong HMB45 staining in amelanotic small blue cell SM is explained by the reaction of HMB45 antibody with an oncofetal antigen found in immature melanosomes. In these poorly differentiated amelanotic malignant melanomas, antibody to HMB45 proved to be a superb diagnostic marker. We therefore strongly advocate the inclusion of HMB45 antibody in the panel of antibodies for initial work‐up of undifferentiated mucosal neoplasms, since a negative S‐100 stain in small biopsy material may result in incorrect classification of these neoplasms.

Our study indicates that, in routine clinical practice, it suffices to harvest the first SN, as the ratio of marked and excised SNs has no impact on disease progression.

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Background:Melanoma incidence rates vary within Europe. The highest incidences are reported in Scandinavia, the lowest in the southern parts, but incidences themselves also vary within the different countries. Objective:We investigated the incidence of invasive cutaneous melanoma in Styria, a province of Austria, in the years 2001–2003. Methods:Data from 1,082 patients, 511 males and 571 females (mean age 58.2 years) with primary melanoma were collected. For each patient, information regarding residence was available, and therefore the geographic distribution of melanoma on district level was investigated with particular reference to the mean number of sun hours, mean altitude, number of companies with more than 200 employees and median income. Results:The mean annual incidence (age-standardized rate) was 24.5 per 100,000 (95% CI: 22.4–26.6), lifetime risk 1 in 52. Districts with a higher number of sun hours and higher altitude showed lower melanoma incidences. Higher median income was associated with higher melanoma incidence (p < 0.001). Conclusion:The high incidence of invasive melanoma in Styria is unclear and a causal relationship between higher income and melanoma incidence remains speculative. Further investigations, especially concerning lifestyle and environmental factors, may unravel additional causative factors.