Asunto(s)
Glándulas Apocrinas , Fosfatidilinositol 3-Quinasa Clase I , Hiperplasia , Neoplasias de las Glándulas Sudoríparas , Humanos , Glándulas Apocrinas/patología , Hiperplasia/patología , Hiperplasia/genética , Femenino , Masculino , Fosfatidilinositol 3-Quinasa Clase I/genética , Neoplasias de las Glándulas Sudoríparas/genética , Neoplasias de las Glándulas Sudoríparas/patología , Persona de Mediana Edad , Mutación , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Anciano , Adulto , Nevo/patología , Nevo/genéticaRESUMEN
Apocrine carcinoma cases with sebaceous differentiation have not been reported and can be misdiagnosed as sebaceous carcinoma. We present two cases of apocrine carcinoma with marked sebocyte-like cytological features. Tumors were observed in the left axilla of a 68-year-old man (Case 1) and the right axilla of a 72-year-old man (Case 2). Both patients presented with multiple lymph node metastases. Histopathology revealed densely distributed solid nests of tumor cells containing foamy cytoplasm and enlarged round nuclei with prominent nucleoli. The tumor cells diffusely expressed adipophilin, PRAME (cytoplasmic pattern), androgen receptor, BerEP4, and GCDFP15 but did not express p63 in both cases. PIK3CA E726K and H1047R mutations were detected in Cases 1 and 2, respectively. Tumor location in the axilla, the presence of eosinophilic granular cytoplasm, prominent nucleoli, and PIK3CA mutations, immunoreactivity for BerEP4 and GCDFP15, and lack of p63 immunoexpression findings matched apocrine carcinoma characteristics, but not sebaceous carcinoma. Thus, apocrine carcinoma can demonstrate intracytoplasmic lipid accumulation and rarely exhibit sebocyte-like cytological features. Apocrine carcinoma should be distinguished from sebaceous carcinoma due to the former's higher metastatic potential and lack of association with Muir-Torre syndrome.
Asunto(s)
Adenocarcinoma Sebáceo , Carcinoma de Apéndice Cutáneo , Síndrome de Muir-Torre , Neoplasias de las Glándulas Sebáceas , Neoplasias de las Glándulas Sudoríparas , Masculino , Humanos , Anciano , Adenocarcinoma Sebáceo/patología , Neoplasias de las Glándulas Sudoríparas/patología , Células Epiteliales/patología , Neoplasias de las Glándulas Sebáceas/diagnóstico , Neoplasias de las Glándulas Sebáceas/patología , Antígenos de NeoplasiasAsunto(s)
Melanoma , Neoplasias Cutáneas , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Melanoma/tratamiento farmacológico , Melanoma/genética , Melanoma/patología , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/genética , Inhibidores de Proteínas Quinasas/uso terapéutico , Inhibidores de Proteínas Quinasas/farmacología , Quinasas de Proteína Quinasa Activadas por Mitógenos/genética , Mutación , Línea Celular Tumoral , Proteínas de la Membrana/genética , GTP Fosfohidrolasas/genética , Melanoma Cutáneo MalignoRESUMEN
Woolly hair nevus is a rare syndrome that presents as woolly hair in restricted areas of the scalp and may be associated with pigmented macules or epidermal nevus on the body. Here, we report a case of woolly hair nevus, linear pigmentation, and multiple epidermal nevi with a somatic HRAS c.34G>A(p.G12S) mutation.
