RESUMO
Chromosomal deletions of band 13q14 occur recurrently in BCR/ABL negative chronic myeloproliferative disorders (CMPD), including myelosclerosis with myeloid metaplasia (MMM), polycythemia vera (PV), essential thrombocythemia (ET), juvenile chronic myeloid leukemia (JCML), and the so-called BCR/ABL- chronic myeloid leukemia (CML). The RBI tumor suppressor locus, mapping to 13q14, has long since been hypothesized as the important gene. In this report, we have determined the frequency of 13q14 deletions at the molecular level in a large panel of BCR/ABL- CMPD at different disease stages and performed a detailed genetic analysis of gross rearrangements/deletions and point mutations of the RBI gene in these disorders. Our data show that molecular deletions of 13q14 are detected in a relatively large fraction of BCR/ABL- CMPD (38%), that they appear to be more frequent in MMM than in other BCR/ABL- CMPD, and that they may be present at diagnosis or occur during blastic evolution of the neoplasia. The RBI gene displayed a germline configuration in all BCR/ABL- CMPD tested, suggesting that 13q14 deletions in these disorders affect a tumor suppressor locus distinct from RBI.
Assuntos
Cromossomos Humanos Par 13 , Deleção de Genes , Genes do Retinoblastoma , Genes Supressores de Tumor , Mutação , Transtornos Mieloproliferativos/genética , Sequência de Bases , Southern Blotting , Medula Óssea/patologia , Mapeamento Cromossômico , Primers do DNA , Éxons , Proteínas de Fusão bcr-abl/genética , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Dados de Sequência Molecular , Transtornos Mieloproliferativos/patologia , Mutação Puntual , Policitemia Vera/genética , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo Conformacional de Fita Simples , Mielofibrose Primária/genética , Deleção de Sequência , Trombocitemia Essencial/genéticaAssuntos
Antineoplásicos/uso terapêutico , Muramidase/sangue , Neoplasias/tratamento farmacológico , Neoplasias Ósseas/tratamento farmacológico , Neoplasias da Mama/tratamento farmacológico , Tolerância a Medicamentos , Neoplasias Gastrointestinais/tratamento farmacológico , Granulócitos , Hematopoese/efeitos dos fármacos , Doença de Hodgkin/tratamento farmacológico , Humanos , Leucemia/tratamento farmacológico , Linfoma/tratamento farmacológico , Metástase NeoplásicaRESUMO
The authors have examined a new colorimetric test, set up by Nixon in 1973 and appropriately modified by them. They have found out 80,14% positive reactions in 146 cases of neoplasms and 82,54% negative reactions in 126 patients suffering from tubeycular and different diseases; lastly 95% negative reactions in apparently healthy individuals. According to the authors' opinion, this test seems to be useful in the diagnosis of neoplasms, when joined, of course, with other diagnostic means now in use.