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Am J Dermatopathol ; 36(8): e146-51, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24335517

RESUMO

Trichoblastoma is a benign cutaneous adnexal tumor, composed mostly of follicular germinative cells. Its pigmented variant is colonized by numerous dendritic melanocytes. So far, only one case in the literature describes a combination of trichoblastoma and melanoma. We report the case of a 62-year-old man who had a slow-growing mass of the left flank present since childhood. This 8-cm mass was surgically removed when it became ulcerated and associated with axillary lymph nodes. Histologically, this tumor was strictly dermal and composed of 2 intermingled components. Large sheets of atypical, proliferating epithelioid cells predominated. Dispersed solid nests or cribriform epithelial islets encased in fibrous tissue were also seen. Some nests displayed a massive colonization by pigmented dendritic melanocytes. On immunohistochemical staining, the sheets of atypical cells expressed focally but strongly S100 protein, MelanA, HMB45, and MiTF. Epithelial structures diffusely expressed pancytokeratin AE1/AE3, KL1, and pleckstrin homology-like domain, family A, member 1. Based on these results, we diagnosed an intradermal melanoma, possibly developed from dendritic melanocytes colonizing a giant pigmented trichoblastoma. Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34G>T (G12C). Array comparative genomic hybridization displayed a complex profile somewhat divergent from standard melanoma profiles. The patient died of widespread metastatic disease 8 months after initial diagnosis.


Assuntos
Biomarcadores Tumorais/genética , Hibridização Genômica Comparativa , Análise Mutacional de DNA , GTP Fosfo-Hidrolases/genética , Melanoma/genética , Proteínas de Membrana/genética , Neoplasias de Anexos e de Apêndices Cutâneos/genética , Neoplasias Cutâneas/genética , Biomarcadores Tumorais/análise , Biópsia , Evolução Fatal , Humanos , Imuno-Histoquímica , Masculino , Melaninas/análise , Melanócitos/química , Melanócitos/patologia , Melanoma/química , Melanoma/secundário , Pessoa de Meia-Idade , Mutação , Neoplasias de Anexos e de Apêndices Cutâneos/química , Neoplasias de Anexos e de Apêndices Cutâneos/patologia , Neoplasias de Anexos e de Apêndices Cutâneos/cirurgia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/patologia , Fatores de Tempo
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