Abstract: BACKGROUND: Approximately five to 10% of all melanomas occur in families with hereditary predisposition and the main high-risk melanoma susceptibility gene is the CDKN2A. OBJECTIVES: To describe, after a five-years study, the clinical data of patients (probands) from familial melanoma kindreds, and the pathological characteristics of their melanoma. METHODS: The inclusion criteria were melanoma patients with a family history of melanoma or pancreatic cancer (first- or second-degree relatives) or patients with multiple primary melanomas (MPM). RESULTS: A total of 124 probands were studied, where 64 were considered familial cases and 60 MPM. Mean age at diagnosis was 50 years. Our results show that the following characteristics were prevalent: skin phototype I/II (89.5%), sunburn during childhood (85.5%), total number of nevi ≥50 (56.5%), Breslow thickness ≤1.0mm (70.2%), tumors located on the trunk (53.2%) and superficial spreading melanomas (70.2%). STUDY LIMITATIONS: Analyses of probands’ relatives will be demonstrated in future publication. CONCLUSIONS: Our findings are in agreement with previous familial melanomas reports. Fifteen new melanomas in 11 patients were diagnosed during follow up, all of which were ≤1.0 mm. This is the largest dataset of Brazilian melanoma prone kindreds to date, thus providing a complete database for future genetic studies.

Merkel cell carcinoma is a very rare and aggressive neoplasm. Due to its rarity, therapeutic guidelines are not well established, especially for regionally advanced disease. Articles in English, French, Italian, Portuguese, and Spanish from the last 20 years were identified in MEDLINE and reviewed. The key word "Merkel" was used for the search, relevant articles were selected, and their references were examined. The most important articles related to epidemiology, genesis and treatment were reviewed. The incidence of Merkel cell carcinoma is increasing due to the advancing age of the population, higher rates of sun exposure and an increasing number of immunocompromised individuals. With regard to etiology, the recently described Merkel Cell polyomavirus is thought to play a role. Either local or regional surgical intervention remains the standard of care, but adjuvant radiotherapy or radiotherapy as a primary treatment have been discussed as reasonable therapeutic options. An update on this rare neoplasia is essential because of its increasing incidence and changing treatment options.

O nevo atípico (displásico) é considerado um fator importante associado com o risco aumentado de desenvolvimento do melanoma cutâneo. Acredita-se que nevos atípicos sejam lesões precursoras do melanoma cutâneo. Podem estar presentes em pacientes com múltiplos nevos melanocíticos (síndrome do nevo atípico) ou isolados e em poucas quantidades em um contexto não familial. Aparecem, geralmente, na puberdade e prevalecem em indivíduos jovens. Têm predileção por áreas expostas ao sol, especialmente, o tronco. O grande desafio em relação ao nevo atípico reside na controvérsia em se definir sua nomenclatura, diagnóstico clínico, critérios dermatoscópicos, diagnóstico histopatológico e aspectos moleculares. Esta revisão tem por objetivo trazer o conhecimento, facilitar o entendimento e responder às questões duvidosas concernentes ao nevo atípico.

Atypical nevum (dysplastic) is considered an important factor associated with increased risk of developing cutaneous melanoma. It is believed that atypical nevi are precursor lesions of cutaneous melanoma. They may be present in patients with multiple melanocytic nevi (atypical nevus syndrome) or isolated and in small numbers in a non-familial context. The disease usually begins at puberty and predominates in young people. It has a predilection for sun-exposed areas, especially the trunk. The major challenge in relation to atypical nevi lies in the controversy of defining its nomenclature, clinical diagnosis, dermoscopic criteria, histopathological diagnosis and molecular aspects. This review aims at bringing knowledge, facilitating comprehension and clarifying doubts about atypical nevus.

CONTEXTO E OBJETIVO: Melanoma de vulva é uma doença rara. Descrevemos a experiência de uma instituição e revisamos a literatura. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo no Departamento de Ginecologia do Hospital do Câncer A. C. Camargo. MÉTODOS: De Janeiro de 1987 a Dezembro de 2006, foram revisados aspectos clínico-patológicos, tratamento cirúrgico e acompanhamento de 11 pacientes com melanoma de vulva. RESULTADOS: Lesão vulvar, prurido, dor e sangramento foram sintomas iniciais. A idade mediana foi 64,8 anos. A mediana da profundidade de invasão foi 3.08 mm. O estadiamento variou de IB a IIIC (American Joint Committee on Cancer, 2002). Todas as pacientes foram submetidas a vulvectomia. Duas pacientes não foram submetidas a linfadenectomia eletiva primária. A linfadenectomia inguinal bilateral foi realizada em cinco pacientes e uma foi submetida à linfadenectomia inguinal unilateral. A pesquisa do linfonodo sentinela foi realizada em três casos. Cinco tiveram recidiva locorregional. A sobrevida prolongada esteve relacionada com a ausência de comprometimento linfonodal. O tempo mediano de acompanhamento foi de 56 meses. A sobrevida mediana livre de doença foi de 15 meses e a sobrevida mediana global de 29 meses. CONCLUSÕES: O prognóstico das pacientes com melanoma de vulva geralmente é ruim, com tendência a recorrência regional e à distância. A profundidade de invasão e envolvimento linfonodal são os principais fatores prognósticos. Na maioria dos casos a ressecção da lesão com margens adequadas pode substituir a vulvectomia. A linfadenectomia inguino-femoral eletiva ainda é o procedimento padrão para estadiamento linfonodal. Pesquisa do linfonodo sentinela é factível e deve ser realizada por equipe multidisciplinar com experiência no método.

CONTEXT AND OBJECTIVE: Vulvar melanoma is a rare disease. We describe the experience of a single institution and review the literature. DESIGN AND SETTING: Retrospective study at the Department of Gynecology, Hospital do Cancer A. C. Camargo. METHODS: Eleven patients with vulvar melanoma attended between January 1987 and December 2006 were reviewed regarding clinicopathological characteristics, surgical therapy and follow-up. RESULTS: The initial symptoms were vulvar lesions, pruritus, pain and bleeding. The median age was 64.8 years. The median depth of invasion was 3.08 mm. The staging ranged from IB to IIIC (American Joint Committee on Cancer, 2002). All the patients underwent vulvectomy. Two patients did not undergo primary elective lymphadenectomy. Bilateral inguinal lymphadenectomy was performed on five patients, and one had unilateral inguinal lymphadenectomy. Sentinel lymph node investigation was performed on three patients. Five patients had locoregional recurrence. Prolonged survival was only achieved in the absence of lymph node involvement. The median follow-up was 56 months. The median disease-free survival was 15 months and the median overall survival was 29 months. CONCLUSIONS: The prognosis for patients with vulvar melanoma is generally poor, with a high tendency towards regional and distant recurrence. Depth of invasion and lymph node involvement are the most important prognostic factors. In most cases, resection of the lesion with adequate margins may replace vulvectomy. Elective inguinal femoral lymphadenectomy remains the standard lymph node staging procedure. Sentinel lymph node investigation is feasible and should be performed by a multidisciplinary team with experience of this method.

Os principais méritos da biópsia de linfonodo sentinela em pacientes com melanoma cutâneo residem na possibilidade de serem evitadas linfadenectomias radicais desnecessárias e de permitir a correta identificação da cadeia de drenagem linfática, principalmente quando o tumor se localiza em áreas de drenagem ambígua. Atualmente já foi incorporada como fator prognóstico, sendo importante dado para o correto estadiamento do paciente. No presente relato são apresentados dois casos em que a utilização desta técnica foi extremamente útil, sobretudo por ter identificado a presença de drenagem linfática para duas cadeias linfáticas distintas. é importante que o dermatologista esteja consciente da correta indicação da técnica, para poder orientar da melhor forma possível seus pacientes.

The main merits of sentinel lymph node biopsy in patients with cutaneous melanoma reside in the possibility of avoiding unnecessary radical nodectomies and of allowing a correct identification of the lymphatic draning basin, specially when the tumor is located in areas of ambiguous drainage. It is currently incorporated as a prognostic factor, being important for correct staging of the patient. This paper reports two cases in which the use of this technique was extremely useful, above all for having identified the presence of lymphatic drainage for two distinct basins. It is important for dermatologists to be aware of the correct indication of such technique, in order to guide patients in the best possible manner.

OBJETIVO: Analisar a freqüência e a etiologia das doenças oculares micóticas diagnosticadas por cultura no Laboratório de Doenças Externas Oculares da Universidade Federal de São Paulo (LOFT-UNIFESP), São Paulo, SP, Brasil e os fatores associados às ceratites fúngicas. MÉTODOS: Estudo retrospectivo de 14.391 solicitações de exames laboratoriais de doenças infecciosas oculares no período compreendido entre 1975 e maio de 2003. Nas comprovações por cultura de micoses oculares foram observados o tipo morfológico do fungo isolado, o sexo e a idade dos pacientes, o local de acometimento da infecção ocular, os anos de identificação e os fatores associados nos casos de ceratite fúngica, conforme o agente etiológico identificado. Considerou-se significante p<0,05. RESULTADOS: Foram verificadas 296 (2,05%) comprovações por cultura de infecção ocular micótica, sendo 265 (89,5%) identificadas como agente etiológico de ceratites, 27 de infecções intra-oculares (9,1%) e 4 de outros locais (1,3%). Fungos filamentosos foram identificados em 233 casos (78,7%), sendo 74,7% dos pacientes do sexo masculino (n=174) e 25,3% do sexo feminino (n=59). Em 63 exames (21,3%) foram isolados fungos leveduriformes, sendo 49,2% dos casos do sexo masculino (n=31) e 50,8% do sexo feminino (n=32).As idades variaram entre 2 e 99 anos no grupo dos fungos filamentosos e entre 14 e 88 anos no grupo dos fungos leveduriformes. Os fungos filamentosos mais freqüentemente encontrados foram Fusarium (n=137 ou 58,8%), Aspergillus (n=28 ou 12,0%) e Penicillium (n=12 ou 5,2%). Entre as leveduras, o gênero mais freqüente foi a Candida (n=59 ou 93,7%). Em relação às ceratites, 95,1% das solicitações apresentadas tiveram pelo menos um fator associado. Trauma ocular foi significativamente associado às ceratites por fungos filamentosos (p=0,0002); e, cirurgias (p=0,0002), doenças oculares prévias (p=0,0002) e sistêmicas (p=0,0002) às infecções por fungos leveduriformes. O uso de antibióticos tópicos mostrou associação com infecção por fungos filamentosos, com menor significância estatística (p=0,0224). CONCLUSÕES: A análise laboratorial mostrou predomínio de infecções por fungos filamentosos sobre os leveduriformes, destacando-se a ceratite micótica como a principal doença verificada. A maioria das ceratites fúngicas apresentou pelo menos um fator associado.

PURPOSE: To analyze the frequency and the etiology of mycotic infectious eye diseases diagnosed by culture at the Ocular Diseases Laboratory of the Federal University of São Paulo (LOFT-UNIFESP), São Paulo, SP, Brazil, and the factors associated with fungal keratitis. METHODS: We retrospectively analyzed the 14,391 laboratory requests regarding infectious eye diseases between 1975 and May 2003. For the fungal culture proven examinations we observed the morphologic type of the isolated fungus, the gender and age of the patient, the site of ocular involvement, the year of identification, and the factors associated with keratitis cases, according to the identified etiologic agent. Results were considered significant if p<0.05. RESULTS: We verified 296 (2.05%) ocular mycosis cases with 265 keratitis (89.5%), 27 intraocular infections (9.1%), and 4 infections at other sites (1.3%). Filamentous fungi were isolated in 233 cases (78.7%) 74.7% being male (n=174) and 25.3% female (n=59). Yeasts were isolated in 63 cases (21.3%) 49.2% being male (n=31) and 50.8% female (n=32). Ages varied between 2 and 99 years in the filamentous fungi group and between 14 and 88 years in the yeast group. The most frequently found etiologic agents of the filamentous fungi isolations were Fusarium (n=137; 58.8%), Aspergillus (n=28; 12.0%), and Penicillium (n=12; 5.2%); and in yeasts, Candida (n=59; 93.7%). Regarding keratitis, 95.1% had at least one associated factor. Ocular trauma was significantly associated with filamentous fungi keratitis (p=0.0002); and previous surgeries (p=0.0002), ocular (p=0.0002) and systemic diseases (p=0.0002) with yeast keratitis. The use of topic antibiotics showed association with filamentous fungi keratitis, at a lower statistical significance (p=0.0224). CONCLUSIONS: Laboratory analysis showed predominance of filamentous fungi over the yeasts, and keratitis was the main observed ocular infection. Fungal keratitis involved at least one associated factor in most cases.