RESUMO
Variant translocations involving 9q, 22q, and at least one additional genomic locus occur in 5-10% of patients with chronic myeloid leukemia (CML). The mechanisms for the formation of these variant translocations are not fully characterized. Studies on the prognosis of these variant translocations revealed conflicting results. In addition, deletions in the derivative chromosome 9 are reportedly more frequent among variant translocation cases. We analyzed cytogenetic and FISH data from 22 CML patients with variant translocations tested at our laboratory. Deletions were observed in 6 of the 14 cases with FISH data available (43%), consistent with the literature and higher than in typical translocation cases (12-15%). Sequential changes of 9q deletions are possible and could be acquired as the disease progresses in addition to simultaneous formation of the Philadelphia chromosome with the deletion. Variant translocation CML patients with a deletion showed a worse cytogenetic response 1 year after therapy than those without a deletion (P < 0.05). Variant translocations may be formed by either a one-step or a two-step mechanism. Proper assessment of the prognostic significance of variant translocations requires better categorization of these translocations based on their mechanisms of genesis and the deletion status.
Assuntos
Cromossomos Humanos Par 22 , Cromossomos Humanos Par 9 , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Translocação Genética , Bandeamento Cromossômico , Deleção Cromossômica , Proteínas de Fusão bcr-abl/genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Leucemia Mielogênica Crônica BCR-ABL Positiva/terapia , Modelos Genéticos , PrognósticoRESUMO
Hepatocellular carcinoma is the seventh most common cancer in men and ninth in women. The authors describe a case of an 83-year old man with a history of cryptogenic cirrhosis and a remote history of tuberculosis who presented with sudden onset of dyspnea. Screening ultrasound of the abdomen and alpha-fetoprotein levels three months before this acute presentation were not suggestive of hepatocellular carcinoma. Chest roentgenogram showed a miliary pattern of pulmonary nodules and the patient was admitted with the diagnosis of miliary tuberculosis. Biopsy established the diagnosis of hepatocellular carcinoma with pulmonary metastases.