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Australas J Dermatol ; 57(1): 64-7, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25302828


Glutathione S-transferase 1 is an enzyme involved in the detoxification of reactive oxygen species, and the rs1695*Val polymorphism has been proposed as a melanoma-associated variant with significant effect. We report a case of malignant melanoma in an individual homozygous for the rs1695*Val variant and discuss the non-invasive and histopathological tools used in diagnosis.

Glutationa S-Transferase pi/genética , Melanoma/genética , Melanoma/patologia , Segunda Neoplasia Primária/genética , Segunda Neoplasia Primária/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Idoso , Dermoscopia , Homozigoto , Humanos , Masculino , Melanoma/diagnóstico por imagem , Microscopia Confocal , Segunda Neoplasia Primária/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem
Australas J Dermatol ; 56(1): 14-8, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25139242


BACKGROUND AND OBJECTIVES: Naevi may change in size, shape and colour due to multiple inherent and external factors. We observed naevi changing size in adults at high risk of melanoma, and assessed associations of change with demographic factors, skin type, sites of naevi and history of melanoma. METHODS: In total, 29 participants with a personal or first-degree family history of melanoma or those deemed at high risk with multiple naevi of variable morphologies had all melanocytic naevi 0.5-1 cm imaged and their maximum diameter recorded. Maximum diameters from repeat imaging of naevi 12 months later were compared to baseline measurements. Newly appearing naevi ≥5 mm and naevi that grew or decreased in size by 20% or more were defined as changeable naevi. Associations between changeable naevi and participants' age, sex, skin type, body sites of naevi and personal and family history of melanoma were assessed. RESULTS: There was no difference in changeable naevus rates among sex, age or skin type. Among the body sites, the head and neck were most likely to have changeable naevi, and the upper limbs the least likely. A family history of melanoma almost tripled the likelihood of having changeable naevi compared with those without both personal and family melanoma history. CONCLUSIONS: Naevi can continue to change in size throughout adulthood, showing both increases and decreases in size as well as the appearance of new naevi. This has important clinical implications, in particular for sequential body imaging used for the detection of melanoma.

Melanoma/patologia , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Adulto , Fatores Etários , Extremidades , Feminino , Cabeça , Humanos , Masculino , Melanoma/genética , Pescoço , Fatores Sexuais , Neoplasias Cutâneas/genética , Tronco , Carga Tumoral
Dermatology ; 228(3): 269-75, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24924527


Acquired melanocytic naevi (AMN) are a well-known risk factor for the development of melanoma. Whereas previous studies have reviewed AMN distributions on individual body sites, the clinical distribution of AMN on the adult trunk has not been thoroughly investigated. We studied 40 participants with 1,282 naevi >5 mm, of which 781 were located on the trunk. Remarkably, 70% of these truncal naevi were located on the back and we produced a continuous mathematical description of decreasing naevus frequency moving dorsolaterally from the back midline. Furthermore we found that for both sexes the mean naevus size was larger on the front as well as on the lower trunk. This distinct pattern, whilst probably being unwritten knowledge (in the dermatology domain), has not been discussed before.

Dermoscopia/métodos , Melanoma/patologia , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Adulto , Fatores Etários , Idoso , Composição Corporal , Índice de Massa Corporal , Estudos de Coortes , Progressão da Doença , Feminino , Seguimentos , Humanos , Incidência , Masculino , Melanoma/diagnóstico , Melanoma/epidemiologia , Pessoa de Meia-Idade , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/epidemiologia , Queensland , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Tronco , Adulto Jovem
JAMA Dermatol ; 150(10): 1079-82, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24695877


IMPORTANCE: Recent advances in targeting BRAFV600E mutations, which occur in roughly 50% of melanomas and 70% of benign nevi, have improved response rates and survival in patients with melanoma. With increased survival, the importance of other comorbidities increases and requires consideration in long-term management. This case report discusses dynamic dermoscopic nevus changes that occur during dabrafenib therapy and offers some conclusions regarding BRAF mutations and the changes. OBSERVATIONS: A man in his 30s had been monitored with whole-body dermoscopy at roughly 7-month intervals as part of a nevus surveillance study. Fourteen months after his initial visit, metastases were found, and the patient entered a clinical trial of dabrafenib with or without trametinib therapy. Continued dermoscopic monitoring for the next 12 months revealed that approximately 50% of the existing acquired melanocytic nevi involuted, while the remaining nevi did not change. Biopsy findings from 1 unchanged and 1 involuted nevus showed BRAF wild type in the unchanged nevus, BRAFV600E mutation in the involuting nevus, and no malignant histopathologic characteristics in either one. CONCLUSIONS AND RELEVANCE: Our observations indicate that a previously suggested hypothesis regarding involuting nevi in BRAF inhibitor therapy is correct: Nevi that involute while a patient is undergoing BRAF V600E inhibitor therapy possess the BRAF V600E mutation, while others that grow or remain unchanged are wild type. However larger-scale trials are required to gather conclusive data and create a more complete clinical picture.

Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Melanoma/tratamento farmacológico , Mutação , Nevo/tratamento farmacológico , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/tratamento farmacológico , Adulto , Dermoscopia , Humanos , Imidazóis/administração & dosagem , Masculino , Melanoma/secundário , Nevo/genética , Nevo/patologia , Oximas/administração & dosagem , Piridonas/administração & dosagem , Pirimidinonas/administração & dosagem , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia
J Invest Dermatol ; 134(1): 141-149, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23774529


A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six individuals as MITF E318K mutation carriers. The phenotype for 5 of these individuals showed a commonality of fair skin, body freckling that varied over a wide range, and total nevus count between 46 and 430; in addition, all were multiple primary melanoma patients. The predominant dermoscopic signature pattern of nevi was reticular, and the frequency of globular nevi in carriers varied, which does not suggest that the MITF E318K mutation acts to force the continuous growth of nevi. Excised melanocytic lesions were available for four MITF E318K carrier patients and were compared with a matched range of wild-type (WT) melanocytic lesions. The MITF staining pattern showed a predominant nuclear signal in all sections, with no significant difference in the nuclear/cytoplasmic ratio between mutation-positive or -negative samples. A high incidence of amelanotic melanomas was found within the group, with three of the five melanomas from one patient suggesting a genetic interaction between the MITF E318K allele and an MC1R homozygous red hair color (RHC) variant genotype.

Melanoma/genética , Fator de Transcrição Associado à Microftalmia/genética , Nevo/genética , Neoplasias Cutâneas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Cor de Cabelo/genética , Humanos , Masculino , Melanoma/epidemiologia , Pessoa de Meia-Idade , Nevo/epidemiologia , Fenótipo , Mutação Puntual , Polimorfismo Genético , Neoplasias Cutâneas/epidemiologia , Adulto Jovem
PLoS One ; 7(2): e32295, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22359680


Larval zebrafish innately perform a suite of behaviors that are tightly linked to their evolutionary past, notably escape from threatening stimuli and pursuit and capture of prey. These behaviors have been carefully examined in the past, but mostly with regard to the movements of the trunk and tail of the larvae. Here, we employ kinematics analyses to describe the movements of the pectoral fins during escape and predatory behavior. In accord with previous studies, we find roles for the pectoral fins in slow swimming and immediately after striking prey. We find novel roles for the pectoral fins in long-latency, but not in short-latency C-bends. We also observe fin movements that occur during orienting J-turns and S-starts that drive high-velocity predatory strikes. Finally, we find that the use of pectoral fins following a predatory strike is scaled to the velocity of the strike, supporting a role for the fins in braking. The implications of these results for central control of coordinated movements are discussed, and we hope that these results will provide baselines for future analyses of cross-body coordination using mutants, morphants, and transgenic approaches.

Reação de Fuga/fisiologia , Voo Animal/fisiologia , Movimento/fisiologia , Comportamento Predatório/fisiologia , Peixe-Zebra/fisiologia , Animais , Larva/fisiologia , Locomoção , Fenômenos Fisiológicos Musculoesqueléticos , Cauda/fisiologia