RESUMO
Type III glycogen storage disease (GSD-III) is an autosomal recessive disorder due to the deficiency of the glycogen debrancher enzyme. 80% of the patients have hepatic and muscular involvement (IIIa), compared to 15% with only liver involvement (IIIb). As the life expectancy improves in these patients, the possible liver complications are better understood.
Assuntos
Carcinoma Hepatocelular/cirurgia , Doença de Depósito de Glicogênio Tipo III/cirurgia , Cirrose Hepática/cirurgia , Neoplasias Hepáticas/cirurgia , Transplante de Fígado , Adulto , Doença de Depósito de Glicogênio Tipo III/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de NeoplasiaRESUMO
INTRODUCTION: hereditary diffuse gastric cancer (HDGC) is a recently reported hereditary cancer syndrome. Patients with suspected HDGC must be under surveillance via endoscopy and multiple biopsies. As an alternative, some studies suggest prophylactic gastrectomy (PG) for disease carriers. The goal of this article was to report our experience with a CDH1 mutation positive family who underwent PG. PATIENTS AND METHODS: the index case was a 34-year-old female diagnosed with diffuse gastric adenocarcinoma and massive carcinomatosis. There was a family history of gastric adenocarcinoma in seven family members. A genetic study identified the c.1577G>A mutation, in exon 11 of the CDH1 gene via sequencing analysis. RESULTS: this mutation was also present in other six family members, who subsequently underwent prophylactic gastrectomy. The pathology study of resected gastric segments revealed multiple microscopic foci of adenocarcinoma in five of these individuals. These foci were not detected in the multiple endoscopies performed before surgery. CONCLUSIONS: we recommend prophylactic gastrectomy for CDH1 mutation carriers even in the absence of lesions during endoscopic screening.
Assuntos
Adenocarcinoma/genética , Adenocarcinoma/cirurgia , Antígenos CD/genética , Caderinas/genética , Gastrectomia , Mutação , Neoplasias Gástricas/genética , Neoplasias Gástricas/cirurgia , Adenocarcinoma/patologia , Adulto , Éxons , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Síndromes Neoplásicas Hereditárias/cirurgia , Linhagem , Neoplasias Gástricas/patologiaRESUMO
Some non-small cell carcinomas of the lung can express TTF1 and p40 in the same tumor cells. This event has been described in only six cases prior to this one, and only in one other female. It is an extraordinary event that appears as a new entity yet to be defined. The case presented is a woman with a non-small cell lung carcinoma with diffuse coexpression of TTF1 and p40 in the same cells.
Assuntos
Neoplasias Pulmonares , Fatores de Transcrição , Feminino , Humanos , Pulmão/patologia , Neoplasias Pulmonares/patologia , Fatores de Transcrição/genéticaAssuntos
Endoscopia por Cápsula , Hemorragia Gastrointestinal/etiologia , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Neoplasias do Jejuno/diagnóstico por imagem , Idoso de 80 Anos ou mais , Tumores do Estroma Gastrointestinal/complicações , Tumores do Estroma Gastrointestinal/patologia , Humanos , Neoplasias do Jejuno/complicações , Neoplasias do Jejuno/patologia , Masculino , Tomografia Computadorizada por Raios XRESUMO
Small cell carcinoma of ovary-hypercalcemic type is an undifferentiated carcinoma. We describe two cases in women aged 32 and 29. Both presented with large masses and complete surgical extirpation was impossible. Histologically, the images were similar, with diffuse cell proliferation, accompanied by the presence of follicle-like spaces. In both cases it was necessary to make a differential diagnosis with entities such as adult or juvenile granulosa cell tumour, small cell carcinoma of pulmonary type, dysgerminoma and even peripheral neuroectodermal tumour. The absence of SMARCA4/BRG1 immunostaining proved very useful in the diagnosis of hypercalcemic small cell ovarian carcinoma.