Renato Marchiori Bakos

Accuracy in melanoma detection: A 10-year multicenter survey

BACKGROUND Early excision is the only strategy to reduce melanoma mortality, but unnecessary excision of benign lesions increases morbidity and healthcare costs. OBJECTIVE To assess accuracy in melanoma detection based on number-needed-to-excise (NNE) values over a 10-year period. METHODS Information was retrieved on all histopathologically confirmed cutaneous melanomas or melanocytic nevi that were excised between 1998 and 2007 at participating clinics. NNE values were calculated by dividing the total number of excised lesions by the number of melanomas. Analyses included changes in NNE over time, differences in NNE between specialized clinical settings (SCS) versus non-specialized clinical settings (NSCS), and patient factors influencing NNE. RESULTS The participating clinics contributed a total of 300,215 cases, including 17,172 melanomas and 283,043 melanocytic nevi. The overall NNE values achieved in SCS and NSCS in the 10-year period were 8.7 and 29.4, respectively. The NNE improved over time in SCS (from 12.8 to 6.8), but appeared unchanged in NSCS. Most of the effect on NNE in SCS was due to a greater number of excised melanomas. Higher NNE values were observed in patients younger than 40 years and for lesions located on the trunk. LIMITATIONS No data concerning the use of dermatoscopy and digital monitoring procedures were collected from the participating centers. CONCLUSION Over the 10-year study period, accuracy in melanoma detection improved only in specialized clinics maybe because of a larger use of new diagnostic techniques such as dermatoscopy.

Sunburn, sunscreens, and phenotypes: some risk factors for cutaneous melanoma in southern Brazil

Background The risk factors for cutaneous malignant melanoma have been studied in populations from numerous countries around the world. There are no published studies on the risk factors for this malignancy in Brazil, the largest country in South America.

Total body skin examination for skin cancer screening in patients with focused symptoms

BACKGROUND The value of total body skin examination (TBSE) for skin cancer screening is controversial. OBJECTIVE We sought to determine whether TBSE could be helpful in patients with focused skin symptoms who would not otherwise have undergone TBSE. METHODS In a prospective, multicenter, cross-sectional study consecutive adult patients were recruited during a period of 18 months. Physicians first inspected problem areas and uncovered areas and then performed TBSE. Equivocal lesions detected in both steps were excised or biopsied. Primary outcomes were the absolute and relative risks of missing skin cancer and the number of patients needed to examine to detect melanoma or another malignancy. A secondary outcome was the proportion of false-positive results obtained by TBSE. RESULTS We examined 14,381 patients and detected 40 (0.3%) patients with melanoma and 299 (2.1%) with at least one nonmelanoma skin cancer by TBSE. In 195 (1.3%) patients equivocal lesions found by TBSE turned out to be benign. We calculated that 47 patients need to be examined by TBSE to find one skin malignancy and 400 patients to detect one melanoma. The risk of missing one malignancy if not performing TBSE was 2.17% (95% confidence interval 1.25-3.74). Factors significantly increasing the chance to find a skin cancer were age, male gender, previous nonmelanoma skin cancer, fair skin type, skin tumor as the reason for consultation, and presence of an equivocal lesion on problem/uncovered areas. LIMITATIONS The impact of TBSE on skin cancer mortality was not evaluated. CONCLUSIONS TBSE improves skin cancer detection in patients with focused skin symptoms and shows a low rate of false-positive results.

European ancestry and cutaneous melanoma in Southern Brazil

Background  Similar to other countries, incidence and mortality rates for cutaneous melanoma (CM) are increasing in Brazil. Resulting from centuries of ethnic mixture, the skin of the Brazilian population presents all phototypes, being progressively lighter following the increase of the latitude toward the South, where the highest incidence of melanoma is observed. Studies from the United States and Argentina in whites suggest that European ancestry could represent an important risk factor for CM in those regions.

Dermoscopy and entomology (entomodermoscopy)

Although dermoscopy has been primarily designed for aiding the in vivo diagnosis of skin tumors, recent advances indicate it is also useful in the diagnosis of common skin infections and infestations. As such, dermoscopy connects the research fields of dermatology and entomology into one field of “entomodermoscopy”. In this article we give an overview on the current applications of entomodermoscopy.

Risk factors for early-onset basal cell carcinoma in a German institution

BACKGROUND Genetic predisposition and ultraviolet (UV) exposure are the most important risk factors for basal cell carcinoma (BCC). Recent reports have demonstrated an increasing incidence of BCC among younger patients. We investigated potential risk factors for sporadic BCC in a subset of young German patients. METHODS Twenty-five patients with BCC at the age of 19 to 40 years (mean 34.4 years) were included in the study. They were selected from a total of 2,058 patients who received surgical treatment for BCC between December 2004 and November 2008. Patients were contacted by telephone interview and asked about sun habits, associated medical conditions, and lifestyle-related variables. Data were compared with interview results from sex-, age- and skin type-matched controls. RESULTS We found 1.4% (29) of 2,058 BCC patients to be ≤40 years of age. Four patients had Gorlin-Goltz syndrome and were excluded from further analysis. Multivariate analysis showed tanning bed use (OR= 25.0; IC95%: 2.26-277.36) and smoking (OR=13.34; IC95%: 1.56-113.8) to be the most significant independent risk factors for BCC, while sunscreen use had a protective effect. CONCLUSION BCCs in young patients were only rarely related to hereditary syndromes, but were associated with environmental carcinogens, i.e. UV radiation and smoking.

The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil

Abstract:  Several germline mutations and sequence variants in cancer predisposition genes have been described. Among these, the CDKN2A p.A148T variant appears to be frequent in patients with melanoma, at least in certain ethnic groups. In this case–control study, we evaluated 127 patients with cutaneous melanoma and 128 controls from Southern Brazil, the region with the highest melanoma incidence rates in the country. Using PCR–RFLP, we demonstrate that CDKN2A p.A148T variant was significantly more frequent in patients with melanoma than in controls (12.6% vs 3.9%; P = 0.009). There was no association between presence of the polymorphism and tumor thickness, site of the primary tumor, melanoma subtype, age at diagnosis, quantitative and qualitative number of nevi. Patients with a positive family of history for other cancers were particularly prone to carry the CDKN2A p.A148T allele. All patients with p.A148T‐positive melanoma reported European ancestry, especially German, and this was confirmed using a panel of ancestry‐informative INDELs. Our data suggest that CDKN2A p.A148T is a melanoma susceptibility allele in Southern Brazil and is particularly common in patients with melanoma of predominantly European ancestry.

Preditores de qualidade de vida em pacientes com melanoma cutâneo no serviço de dermatologia do Hospital de Clínicas de Porto Alegre

BACKGROUNDS: Some symptoms present in melanoma patients are directly related to psychological stress, which emphasizes the need to evaluate quality of life (QoL) in these patients at all the stages of their disease. OBJECTIVES: The objective of this study was to evaluate quality of life in a sample of patients diagnosed with melanoma, using the Functional Assessment of Cancer Therapy-General (FACT-G) questionnaire. METHODS: A descriptive, cross sectional study was conducted between July and December, 2006 with all patients with skin melanoma receiving follow-up care at the Department of Dermatology of the Porto Alegre Teaching Hospital, Federal University of Rio Grande do Sul. RESULTS: Sixty patients were included in the study. Mean age was 55.6 years. Poor education level (primary school or less) was associated with a poorer FACT-G score. Patients with a family history of the disease had higher QoL scores in 3 of the 4 categories evaluated: physical, emotional and functional wellbeing (p<0.01). QoL scores were higher in married patients (82.42) compared to single patients (70.28) (p<0.01). Patients with metastases had lower scores in the functional wellbeing category and this difference was statistically significant. CONCLUSIONS: Factors related to the tumor, as well as gender, age and employment status, were not found to be predictive of quality of life in this sample. Quality of life scores were lower in the functional wellbeing domain in patients with metastases. Married patients are able to count on greater comfort and emotional support to help them deal with the diagnosis of melanoma. Patients with a family history of melanoma had significantly higher quality of life scores, while those with poor education levels had lower scores.

Severe cutaneous reactions to drugs in the setting of a general hospital

BACKGROUND Cutaneous drug reactions are frequently found. Assessing the clinical and epidemiological profile of severe forms is extremely relevant for their better recognition and management. Few studies have assessed the severe forms of cutaneous drug reactions in patients hospitalized in our setting. OBJECTIVES To assess the clinical and epidemiological aspects of severe cutaneous adverse reactions to drugs in a tertiary hospital in Porto Alegre, Brazil. METHODS All cases of severe cutaneous adverse reactions to drugs in patients hospitalized from January/2005 to December/2010 were retrospectively analyzed for clinical and epidemiological variables. Cases of Stevens-Johnson Syndrome, Toxic Epidermal Necrolysis, drug hypersensitivity syndrome or Drug Reaction with Eosinophilia and Systemic Symptoms and acute generalized exanthematous pustulosis were included. RESULTS An occurrence rate of 1 serious reaction for every 3,048 inpatients was found (total of 173,767 inpatients admitted in the period). Drug Reaction with Eosinophilia and Systemic Symptoms was the most frequent presentation. The drugs most frequently involved were anticonvulsants (40.4%), antibiotics (26.3%), and analgesics/anti-inflammatory drugs (10.5%). Thirty seven patients (64.9%) were admitted to hospital because of the cutaneous drug reaction. Ten patients (17.5%) died and in most of those (60%), the drug causing the reaction could not be determined. CONCLUSIONS The frequency of severe cutaneous adverse reactions to drugs in our setting is significant. Drug Reaction with Eosinophilia and Systemic Symptoms seems to be the most frequent presentation of severe cutaneous drug reactions. Most patients developed cutaneous drug reactions outside the hospital. Mortality rates were higher for Toxic Epidermal Necrolysis and this presentation significantly affected older people. Not knowing the drug causing the reaction was related to mortality.

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

Purpose:CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America.Methods:CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained.Results:Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients.Conclusion:The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727–736.