| Revista: | Revista brasileira de hematologia e hemoterapia |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000305935 |
| ISSN: | 1516-8484 |
| Autores: | Kupka, Elcio1 Araujo, Marcos V Pasquini, Ricardo1 Neto, Jose Z Medeiros, Carlos R Bitencourt, Marco A Bonfim, Carmem M.S Moreira, Vaneuza A Setubal, Daniela C Flowers, Mary E. D2 |
| Instituciones: | 1Universidade Federal do Parana, Hospital de Clinicas, Curitiba, Parana. Brasil 2Fred Hutchinson Cancer Research Center, Seattle, Washington. Estados Unidos de América |
| Año: | 2003 |
| Volumen: | 25 |
| Número: | 4 |
| Paginación: | 239-246 |
| País: | Brasil |
| Idioma: | Portugués |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | Fanconi's Anemia, first described in 1927, is a rare autonomic recessive disease characterized by progressive pancytopenia, congenital malformations, spontaneous or chemically induced chromosome breakage and increased incidence of leukemia and other cancers. The onset of bone marrow hypoplasia and its hematological manifestations is usually in the 3 - 7 year age range. The disease has traditionally been managed clinically through administration of blood products, treatment of infections and prolonged administration of androgens, growth factors and more recently with gene therapy. The value of bone marrow transplantation in correcting the hematological manifestations of Fanconi's anemia has been established. Alkilanting agents and radiation have been utilized as a conditioning regimen in bone marrow transplantation for Fanconi's anemia, but these patients are particularly hypersensitive to these agents and its toxicity is the main cause of mortality and morbidity. Bone marrow transplantation is at the moment the only therapeutic modality able to bring hematological cure. Fanconi's anemia patients are particularly susceptible to the development of hematological malignancies and squamous cell carcinoma in the epithelium of the rectum, vagina, cervix, esophagus, oral cavity, pharynx or skin in general but more frequently on the head and neck; probably not only because the basic cellular defect but also because of the conditioning regimen. We report on three cases of Fanconi's anemia patients developing squamous cell carcinoma of the tongue after bone marrow transplantation. Furthermore, there is mention of the risk factors linked in an event, such as the diagnosis of Fanconi's anemia, pre-transplant conditioning regimen that usually includes alkylating agents and irradiation; immunosuppressive prophylactic therapy for acute and chronic graft-versus-host-disease, gender and age. Additionally, we discussed the existence of three postulated mechanisms that make indi |
| Resumen en portugués | Anemia Fanconi (AF) é uma síndrome autossômica recessiva, caracterizada por pancitopenia progressiva com hipoplasia de MO, em associação com várias anormalidades constitucionais, tendo como único recurso terapêutico com possibilidade potencial de cura o transplante de medula óssea, e sendo tais pacientes propensos ao desenvolvimento de malignidades hematológicas e carcinoma de células escamosas (CEC) em diversos locais: reto, vagina, cérvice, esôfago, cavidade bucal, faringe ou pele, mas especialmente em cabeça e pescoço. Relatamos aqui três casos de pacientes portadores de AF, que após TMO desenvolveram CEC em língua. Além disso, mencionamos fatores de risco relatados para tal evento, como diagnóstico de AF, condicionamento pré-transplante (quimioterápicos e irradiação), terapia com drogas imunossupressoras para tratamento de doença enxerto contra hospedeiro (DECH) aguda ou crônica, sexo e idade avançada. Além do que, discorremos sobre a existência de três mecanismos postulados que predispõem indivíduos com AF ao desenvolvimento de neoplasia: (1) defeito na reparação do DNA; (2) defeito na detoxificação de radicais de oxigênio; e (3) imunodeficiência |
| Disciplinas: | Medicina |
| Palabras clave: | Hematología, Oncología, Agentes alquilantes, Ciclofosfamida, Citogenética, Anemia de Fanconi, Carcinoma de células escamosas, Factores de riesgo, Trasplantes, Médula ósea |
| Keyword: | Medicine, Hematology, Oncology, Alkylating agents, Cyclophosphamide, Cytogenetics, Fanconi anemia, Squamous cell carcinoma, Bone marrow, Transplantation, Risk factors |
| Texto completo: | Texto completo (Ver HTML) |
