RESUMO
Advances in genetics related to the diagnosis and treatment of cancer have transformed the oncology specialty into one with more promising outcomes. Because of the Human Genome Project, the association between genetics and cancer is more clearly defined and healthcare professionals need to be prepared to integrate new genetics knowledge into clinical practice. This article reviews basic genetic information essential for oncology nurses in advanced practice. Application of genetic guidelines uses the model of multiple myeloma. Multiple myeloma is an example of a disease in which cytogenetics has become increasingly important for diagnosis, prognosis, and treatment. As the basis of knowledge in genetics continues to expand, oncology providers are transitioning to a paradigm in which cytogenetic elements carry more weight in diagnosis and treatment.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 16 , Neoplasias/genética , Enfermagem Oncológica , Translocação Genética , Humanos , Recursos HumanosRESUMO
Antemortem diagnosis of diffuse myelomatous pulmonary infiltrate is rare. We present one such case in which diagnosis was established from bronchoalveolar lavage (BAL) fluid demonstrating the presence of monoclonal plasma cells. The diffuse involvement of the lungs by myeloma was confirmed at autopsy. The possibility of myelomatous pulmonary infiltrates was suggested by the absence of fever or failure to respond to antibiotics but regression with myeloma treatment. Analysis of BAL fluid for the presence of plasma cells and for cytoplasmic immunoglobulin DNA provides a noninvasive means of establishing the diagnosis. Diffuse parenchymal lesions in the lung due to myeloma should be entertained as a differential of pulmonary infiltrates.
