RESUMEN
In a retrospective study, 43 patients with dysplastic neoplasms of the bone marrow (myelodysplastic syndromes and myelodysplastic/myeloproliferative-overlap neoplasms) associated with marked (grades 2-3) fibrosis were examined. Histopathologic and morphologic findings as well as cytogenetic and molecular results were correlated with clinical endpoints. Multilineage dysplasia (34 of 43 patients, 79 %) and hypercellular bone marrow (64 %) were found in most patients. In ten of 35 patients, poor risk karyotypes according to the International Prognostic Scoring System (IPSS) were recorded. The JAK2 V617F mutation was detected in four of 30 patients (13 %), and the KIT D816V mutation was found in two of 30 patients (6 %). Patients were mainly treated with palliative drugs and best supportive care. After an observation time of 1-41 (median 21) months, ten of 43 patients (23 %) had developed a secondary acute leukemia. The median survival of all 43 patients was 21.4 months (range 1.8-88.2 months). Of all prognostic parameters examined, the blast cell count at diagnosis was found to be a most reliable and most predictive marker concerning survival and leukemia progression. This confirms previous studies in dysplastic bone marrow neoplasms without fibrosis.
Asunto(s)
Médula Ósea/patología , Células Madre Hematopoyéticas/patología , Síndromes Mielodisplásicos/patología , Trastornos Mieloproliferativos/patología , Adulto , Anciano , Anciano de 80 o más Años , Recuento de Células , Linaje de la Célula , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Janus Quinasa 2/genética , Estimación de Kaplan-Meier , Cariotipificación , Leucemia Mieloide Aguda/epidemiología , Leucemia Mieloide Aguda/patología , Masculino , Persona de Mediana Edad , Mutación Missense , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/mortalidad , Trastornos Mieloproliferativos/genética , Trastornos Mieloproliferativos/mortalidad , Cuidados Paliativos , Mutación Puntual , Mielofibrosis Primaria/genética , Mielofibrosis Primaria/mortalidad , Mielofibrosis Primaria/patología , Pronóstico , Proteínas Proto-Oncogénicas c-kit/genética , Estudios RetrospectivosRESUMEN
Novel knowledge in the fields of molecular biology, genetics and reproductive medicine will revolutionize medicine in the near future. Among many new therapeutical aspects arise a number ethical questions that include preimplantation diagnostics, embryonic stem cell research and gene therapy. Believing in scientific progress is often criticized but today it is primarily ignorance as well as fundamentalism that block sensible discussions. In the future it shall be of importance to differentiate between "to be alive" and "to have a life", hence yielding a new definition of the term "life". Also important is to keep in mind the difference between individual moral claims and general ethics. Without doubt, the current developments in medicine will bring about interesting consequences but the inherent dangers are recognizable as well. However, only a positive attitude will result in beneficial developments. More flexibility on all sides will be needed in the concurrent discussion process.
