RESUMEN
We report three cases of tetrasomy 8 associated with myeloid disease. Two patients had chronic myelomonocytic leukemia (CMMoL) and the other had acute monocytic leukemia (AML M5 FAB). Two patients had trisomy/tetrasomy chromosome 8 as the sole abnormality. The other patient with CMMoL had two normal 8 chromosomes plus one isochromosome 8q; this is the first case of long arm chromosome 8 tetrasomy without short arm 8 monosomy. This cytogenetic finding suggests the importance of the genes located in the long arms of chromosome 8.
Asunto(s)
Aneuploidia , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Cromosomas Humanos Par 8/genética , Leucemia Monocítica Aguda/genética , Leucemia Mielomonocítica Crónica/genética , Adulto , Anciano , Anciano de 80 o más Años , Bandeo Cromosómico , Resultado Fatal , Femenino , Humanos , Cariotipificación , Leucemia Monocítica Aguda/patología , Leucemia Mielomonocítica Crónica/patología , Masculino , TrisomíaRESUMEN
A 51-year-old male patient was diagnosed with Burkitt lymphoma 3 months after cardiac transplantation. The bone marrow karyotype was very complex, and to better define the complex karyotype we used the in situ suppression hybridization technique. Previously we interpreted this karyotype to be: 48,XY,t(2;8)(p11;q24), +der(2)t(2;8)(p11;q24),del(2)(q23), +7, +der(8)t(2;8)(p11;q24), +12, -13, -18, by G banding techniques, with a duplication of the t(2;8) derivatives. After in situ hybridization we changed to a: 48,XY,t(2;8)(p11;q24),t(2;18)(q23;q22), +7, +der(8)t(2;8)(p11;q24), +12, -13, which implies duplication of only one t(2;8) derivative.
Asunto(s)
Linfoma de Burkitt/genética , Cromosomas Humanos Par 2 , Cromosomas Humanos Par 8 , Familia de Multigenes , Técnicas Genéticas , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Persona de Mediana Edad , Translocación GenéticaRESUMEN
We report herein a 38-year-old male patient with Fanconi anemia but with few phenotypic manifestations--short stature, sterility, and hypoplasic anemia with several years of evolution-who developed a myelodysplastic syndrome (MDS). Bone marrow karyotype showed long arm triplication of chromosome 1 (q12-21q31-q32), and two markers add(11)(p15) and add(21)(q22) which had extra material of chromosome 3 besides the normal chromosome 3 pair. Peripheral blood showed chromosome instability; SCE was normal. Both the patient and his family showed a high prevalence of malignant diseases. 1q duplication and, in a few cases, triplication of 1q has been related to Fanconi anemia, being of unknown significance.
Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas , Cromosomas Humanos Par 1/genética , Anemia de Fanconi/genética , Adulto , Médula Ósea/patología , Análisis Citogenético , Humanos , Masculino , Intercambio de Cromátides HermanasRESUMEN
We describe the cytogenetic study of a neuroendocrine tumor of Merkel cells which appeared in a patient following a heart transplant. An abnormal karyotype was observed in a metastatic lymph node. The abnormality includes two markers derived from the long arm of chromosome 1, while maintaining two normal chromosomes 1.
Asunto(s)
Aneuploidia , Carcinoma de Células de Merkel/genética , Cromosomas Humanos Par 1/genética , Neoplasias Cutáneas/genética , Brazo , Marcadores Genéticos , Trasplante de Corazón , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
A system which automatically selects second division metaphases and then, automatically scores the number of SCEs of each cell is described. In an initial set of experiments, the performance of the components of the system was measured using a data set in which metaphases had been visually classified as either 2nd division or other; and in 2nd division metaphases, every SCE had been marked on a hard copy. SCE scoring had a true positive rate of about 75% and a false positive rate of about 1.5 false SCEs per metaphase analyzed. Second division detection had a true positive rate of 80% and a false positive rate of about 10% of the non-2nd division cells. Next, the overall system was compared to human visual scoring in a dose-response experiment by analyzing the effect of mitomycin C on human chromosomes scored visually by two observers and by the fully automatic scoring. Human visual scoring and machine analysis showed similar dose responses, but the variability between them was considerable.
Asunto(s)
Citogenética/instrumentación , Procesamiento de Imagen Asistido por Computador/instrumentación , Intercambio de Cromátides Hermanas , División Celular/efectos de los fármacos , Células Cultivadas , Relación Dosis-Respuesta a Droga , Reacciones Falso Negativas , Reacciones Falso Positivas , Humanos , Linfocitos/efectos de los fármacos , Mitomicina/farmacología , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadAsunto(s)
Aberraciones Cromosómicas/genética , Células Clonales/metabolismo , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/patología , Adulto , Crisis Blástica , Trasplante de Médula Ósea , Deleción Cromosómica , Cromosomas Humanos Par 17/genética , Células Clonales/patología , Humanos , Cariotipificación , Leucemia Mielógena Crónica BCR-ABL Positiva/terapia , MasculinoRESUMEN
We report a case of primary thrombocythaemia showing a translocation t(4; 6)(q21; q27) five years after diagnosis. The patient had been treated with hydroxyurea. The clinical picture at the time was consistent with transformation. Karyotypic abnormalities are rare in this disease and are reviewed.