RESUMO
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.
Assuntos
Genes p16 , Melanoma/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Cutâneas/genética , Substituição de Aminoácidos , Sequência de Bases , Brasil/epidemiologia , Estudos de Casos e Controles , Primers do DNA/genética , Etnicidade/genética , Europa (Continente)/etnologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Mutação INDEL , Masculino , Melanoma/epidemiologia , Melanoma/patologia , Pessoa de Meia-Idade , Epidemiologia Molecular , Estudos Prospectivos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologiaRESUMO
Oculocutaneous albinism is a group of rare inherited disorders of pigmentation. Some albinos may have a certain degree of melanin production and, consequently, may develop pigmented lesions during their lives. Albinos are also at great risk for developing cutaneous malignancy, including melanomas. We report two patients with oculocutaneous albinism and pigmented melanocytic nevi and describe, as far as we known, for the first time the dermatoscopic findings in albinos' nevi. The predominant dermatoscopic pattern observed in pigmented melanocytic nevi in albino patients seems to have a similar pattern to that observed in nevi of patients with skin type I. It corresponds to light-brown coloration, reticular pattern, and central hypopigmentation.
Assuntos
Albinismo Oculocutâneo/complicações , Albinismo Oculocutâneo/patologia , Nevo Pigmentado/complicações , Nevo Pigmentado/patologia , Adolescente , Dermoscopia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pele/patologia , Pigmentação da PeleRESUMO
Neurosyphilis presenting as a cerebral gumma is an uncommon event. To date there are seven cases of cerebral gumma reported in human immunodeficiency virus (HIV)-infected patients. We describe a HIV-infected patient with neurosyphilis presenting as an expanding central nervous system lesion and unremarkable cerebrospinal fluid analysis. This case report illustrates the clinical and therapeutic aspects of syphilitic gumma in HIV-infected patients.