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1.
J Clin Pathol ; 62(5): 471-3, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19398597

RESUMEN

Mutations of DNA mismatch repair genes are characterised by microsatellite instability and are implicated in carcinogenesis. This mutation susceptible phenotype has been extensively studied in patients with hereditary non-polyposis colon carcinoma, but little is known of the contribution of such mutations in other tumour types, particularly non-small-cell lung carcinoma. This report describes the occurrence of two synchronous lung tumours, one mimicking a metastatic colon carcinoma, in a male patient with a history of metachronous colonic carcinoma. Immunohistochemistry supported a pulmonary origin for both lesions. Mismatch repair protein immunohistochemistry showed loss of MSH2 and MSH6 expression in both colonic tumours and in one lung tumour showing enteric differentiation. Subsequent mutational analysis demonstrated a deleterious germline mutation of the MSH2 mismatch repair gene. The significance of these findings and the practical diagnostic difficulties encountered in this case are discussed.


Asunto(s)
Adenocarcinoma/genética , Neoplasias Colorrectales/genética , Mutación de Línea Germinal , Neoplasias Pulmonares/genética , Proteína 2 Homóloga a MutS/genética , Neoplasias Primarias Múltiples/genética , Adenocarcinoma/patología , Análisis Mutacional de ADN/métodos , Humanos , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/patología , Linaje
2.
Ir J Med Sci ; 178(2): 223-5, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18288571

RESUMEN

Vaginal tumours are uncommon and this is a particularly rare case of a vaginal haemangioendothelioma in a 38-year-old woman. Initial presentation consisted of symptoms similar to uterovaginal prolapse with "something coming down". Examination under anaesthesia demonstrated a necrotic anterior vaginal wall tumour. Histology of the lesion revealed a haemangioendothelioma which had some features of haemangiopericytoma. While the natural history of vaginal haemangioendothelioma is uncertain, as a group, they have a propensity for local recurrence. To our knowledge this is the third reported case of a vaginal haemangioendothelioma. Management of this tumour is challenging given the paucity of literature on this tumour. There is a need to add rare tumours to our "knowledge bank" to guide management of these unusual tumours.


Asunto(s)
Hemangioendotelioma/diagnóstico , Hemangiopericitoma/diagnóstico , Neoplasias Vaginales/diagnóstico , Adulto , Femenino , Hemangioendotelioma/cirugía , Hemangiopericitoma/cirugía , Humanos , Neoplasias Vaginales/cirugía
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