RESUMEN
Radiation induced malignancy (RIM) after treatment for prostate cancer is well documented after external beam irradiation, but less so in the setting of brachytherapy. We report a case of mucinous adenocarcinoma of the prostate, consistent with a RIM, which developed 12 years after low dose rate brachytherapy for low risk prostate adenocarcinoma. Diagnostic and therapeutic considerations of RIM are discussed. As long term survivors are followed in the community by primary care physicians and urologists, awareness of RIM as a potential late effect of brachytherapy is important to ensure that cases are diagnosed and managed appropriately.
Asunto(s)
Adenocarcinoma Mucinoso/secundario , Adenocarcinoma/radioterapia , Braquiterapia/efectos adversos , Neoplasias Inducidas por Radiación/patología , Neoplasias de la Próstata/radioterapia , Adenocarcinoma/patología , Adenocarcinoma Mucinoso/cirugía , Biopsia con Aguja , Braquiterapia/métodos , Relación Dosis-Respuesta en la Radiación , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Neoplasias Inducidas por Radiación/cirugía , Neoplasias de la Próstata/patología , Dosificación Radioterapéutica , Reoperación/métodos , Medición de Riesgo , Resultado del TratamientoRESUMEN
Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. Autozygosity mapping and sequencing identified a previously unknown missense mutation, R272Q, in ICK, encoding intestinal cell kinase (ICK). Our results established that R272 is conserved across species and among ethnicities, and three-dimensional analysis of the protein structure suggests protein instability due to the R272Q mutation. We also demonstrate that the R272Q mutant fails to localize at the nucleus and has diminished kinase activity. These findings suggest that ICK plays a key role in the development of multiple organ systems.
Asunto(s)
Enfermedades Óseas/genética , Enfermedades del Sistema Nervioso Central/genética , Enfermedades del Sistema Endocrino/genética , Etnicidad/genética , Mutación , Proteínas Serina-Treonina Quinasas/genética , Animales , Autopsia , Enfermedades Óseas/sangre , Enfermedades Óseas/patología , Encéfalo/enzimología , Enfermedades del Sistema Nervioso Central/patología , Secuencia Conservada , Enfermedades del Sistema Endocrino/sangre , Enfermedades del Sistema Endocrino/patología , Exones , Femenino , Genes Recesivos , Humanos , Riñón/enzimología , Hígado/enzimología , Masculino , Linaje , Proteínas Serina-Treonina Quinasas/sangre , Hermanos , Especificidad de la Especie , SíndromeRESUMEN
A total of 43 cases of postirradiation prostate cores were assessed in an attempt to determine if routine use of alpha-methylacyl-CoA racemase (AMACR) in conjunction with high-molecular weight cytokeratin (HMWCK) would increase the recognition of carcinoma in postirradiation prostate biopsies. We concluded that in most cases the addition of AMACR in conjunction with HMWCK does not increase the recognition of prostatic adenocarcinoma, however it is supportive in nature. In one case the use of AMACR highlighted the extent of the adenocarcinoma which otherwise would have been designated as atypical small acinar proliferation (ASAP). Further evaluation is required to assess the significance of a diagnosis of atypical small acinar proliferation in postirradiation prostate biopsies.