Asunto(s)
Antineoplásicos/uso terapéutico , Trastornos Mieloproliferativos/tratamiento farmacológico , Trastornos Mieloproliferativos/genética , Proteínas de Fusión Oncogénica/genética , Piperazinas/uso terapéutico , Pirimidinas/uso terapéutico , Receptor beta de Factor de Crecimiento Derivado de Plaquetas/genética , Trombocitosis/etiología , Proteínas Supresoras de Tumor/genética , Proteínas Adaptadoras Transductoras de Señales , Anciano , Benzamidas , Cromosomas Humanos Par 5/genética , Cromosomas Humanos Par 9/genética , Proteínas del Citoesqueleto , Humanos , Mesilato de Imatinib , Hibridación Fluorescente in Situ , Masculino , Trastornos Mieloproliferativos/complicaciones , Trombocitosis/tratamiento farmacológico , Translocación GenéticaRESUMEN
Translocation t(12;21)(p13;q22) is the most frequent cytogenetic abnormality in childhood acute lymphoblastic leukemia (ALL) and is generally associated with favorable prognosis. In this report, we assessed the value of dual-color interphase fluorescence in situ hybridization (FISH) for the detection of t(12;21). Fifty-three patients were screened for ETV6/CBFA2 fusion by means of FISH, using two cosmid probes mapped on ETV6 and on CBFA2, respectively. The cut-off value (mean + three standard deviations) for positivity established on control patients was 9.3%. A comparison between FISH and molecular methods [reverse-transcriptase polymerase chain reaction/Southern blot (RT-PCR/SB)] was possible in 52 patients: 34 of 52 (65.4%) showed negative results with both approaches, and 13 of 52 (25%) were positive; 5 of 52 (9.6%) showed discrepancies: four patients who were positive using RT-PCR/SB were negative using FISH. Conversely, one patient negative when using RT-PCR/SB was positive with FISH. Further investigations on this patients, cytogenetically characterized by add(12p), showed an atypical breakpoint on ETV6, located 5' to the common breakpoint. Compared with RT-PCR and SB, dual-color interphase FISH with the cosmid probe set proved to be highly specific but showed limited sensitivity.
Asunto(s)
Cromosomas Humanos Par 12 , Cromosomas Humanos Par 21 , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocación Genética , Southern Blotting , Niño , Preescolar , Femenino , Humanos , Hibridación Fluorescente in Situ , Interfase , Recuento de Leucocitos , Masculino , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
A case of chronic myeloid leukemia displaying an uncommon t(21;22)(q22;q11) is reported. For the first time, this translocation has been characterized by fluorescence in situ hybridization (FISH) and the reverse transcriptase polymerase chain reaction (RT-PCR). FISH, with the use of whole-chromosome painting probes and probes specific for the BCR and ABL genes, showed a three-way variant Philadelphia translocation (9;22;21)(q34;q11;q22) with a BCR/ABL fusion residing on the der(22). In addition, RT-PCR demonstrated a b2a3 BCR/ABL fusion transcript. Underlying mechanisms and prognostic implications are discussed.
Asunto(s)
Cromosomas Humanos Par 21 , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Cromosoma Filadelfia , Bandeo Cromosómico , Femenino , Proteínas de Fusión bcr-abl/genética , Humanos , Hidroxiurea/uso terapéutico , Hibridación Fluorescente in Situ , Interferón-alfa/uso terapéutico , Cariotipificación , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
We report three cases of myeloid disorders with a dic(1;15)(p11;p11), resulting in trisomy of the long arm of chromosome 1. A review of the literature showed six cases, reported as t(1;15). We suggest that these cases have the same anomaly and should be reappraised as dic(1;15).
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 1 , Síndromes Mielodisplásicos/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , TrisomíaRESUMEN
OBJECTIVE: To evaluate the cytogenetic effects following the ingestion of high doses of arsenicals. METHODS: Determination of the mean sister chromatid exchange (SCE) frequency and the population of high-frequency cells (HFC, cells with a high SCE frequency) in the peripheral blood lymphocytes in four patients who ingested 150 mg KAsO2, 1 g, 10 g and 20 g As2O3 respectively. RESULTS: Doses of 10 g and 20 g significantly increased the HFC frequency and produced a shift in the distribution of the cells in accordance with the number of SCEs. The mean frequency of SCEs/cell was affected only after the highest dose (20 g). CONCLUSION: These results strongly suggest that cytogenetic methods are inappropriate for biomonitoring people occupationally exposed to arsenicals.