RESUMO
Renal cell carcinoma (RCC) accounts for 2-3% of all malignant disease in adults. Hereditary RCC represents 5 to 8% of kidney tumors. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) represents an autosomal dominant syndrome that results from a germline mutation in fumarate hydratase gene (FH). HLRCC patients typically present with skin or uterine leiomyomas and renal neoplasms. HLRCC was recently recognized as a distinct renal tumor subtype by the WHO 2016 classification. Many morphological patterns such as papillary, solid, tubular, and cystic had been described as part of morphological aspects of HLRCC. In this study, we describe a case of a patient that had a history of persistence of ductus arteriosus (PDA) and cryptorchidism. In addition, the renal tumor showed a very unusual hystiocytoid morphological aspect. We confirmed the presence of a FH germline mutation both in the patient and his mother.
Assuntos
Leiomiomatose/patologia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/patologia , Adulto , Criptorquidismo/etiologia , Permeabilidade do Canal Arterial/etiologia , Fumarato Hidratase/genética , Mutação em Linhagem Germinativa , Humanos , Leiomiomatose/complicações , Leiomiomatose/genética , Masculino , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/genética , Neoplasias Uterinas/complicações , Neoplasias Uterinas/genéticaRESUMO
Ameloblastoma is a neoplasm arising from the epithelium involved with the formation of teeth. They are usually benign, locally aggressive and recurrent, however, metastases are rare. The treatment is not clearly defined and the main therapeutic tool is surgical intervention. Radiotherapy and chemotherapy have not been shown encouraging results. As there are few cases reported in the medical literature and the treatment is challenging, we reported a case of a 53-year-old woman with recurrentameloblastoma, with local and distant recurrence, that remains alive over 25 years from diagnosis.
Assuntos
Humanos , Ameloblastoma , Tratamento Farmacológico , Radioterapia , Recidiva , Radiação , Cirurgia GeralRESUMO
Dermatomyositis is an autoimmune disorder that affects mainly muscles and skin. In some cases it may be associated to neoplasms occurring before the diagnosis of cancer. Its relation to germ cell tumor is not well documented, so we describe a case of a patient with history of muscle weakness and cutaneous rash that preceded cancer for 6 months. Dermatomyositis must remind of a possible occult neoplasm and its remission may follow the treatment of the tumor.
