Asunto(s)
Proteína ETS de Variante de Translocación 6 , Proteínas Proto-Oncogénicas c-ets , Proteínas Represoras , Quinasa Syk , Humanos , Quinasa Syk/antagonistas & inhibidores , Quinasa Syk/genética , Proteínas Represoras/genética , Proteínas Proto-Oncogénicas c-ets/genética , Proteínas de Fusión Oncogénica/genética , Inhibidores de Proteínas Quinasas/uso terapéutico , Inhibidores de Proteínas Quinasas/farmacología , Reordenamiento Génico , Masculino , Femenino , Persona de Mediana Edad , Trastornos Mieloproliferativos/genética , Trastornos Mieloproliferativos/tratamiento farmacológicoRESUMEN
Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient's karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qterâ8q13::1p31â1qter;8pterâ8q13::11q23â11qter;11pterâ11q23::1p31â1pter). Additionally, the proband's mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.
Asunto(s)
Aberraciones Cromosómicas , Reproducción/genética , Translocación Genética/genética , Bandeo Cromosómico , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 8/genética , Análisis Citogenético/métodos , Femenino , Humanos , Hibridación Fluorescente in Situ/métodos , Cariotipificación , Masculino , LinajeRESUMEN
MicroRNAs are a class of small noncoding RNAs playing a crucial role in physiological and pathological conditions, including acute myeloid leukemia. We aimed at examining whether in clinical settings the identification of patient-specific leukemia-associated profiles (LAMPs) of overexpressed microRNAs could be used for minimal residual disease (MRD) detection. Patients with identified LAMPs at diagnosis were further tested for the presence of LAMP after induction therapy. Those with identifiable MRD defined by LAMP expression after induction showed a trend toward a shorter overall survival. Larger studies are needed to confirm the utility of patient-specific LAMPs for MRD follow-up.
Asunto(s)
Leucemia Mieloide Aguda/genética , MicroARNs/biosíntesis , Adulto , Anciano , Anciano de 80 o más Años , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Femenino , Perfilación de la Expresión Génica , Humanos , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/patología , Masculino , MicroARNs/genética , Persona de Mediana Edad , Neoplasia Residual , Pronóstico , Adulto JovenAsunto(s)
Cromosomas Humanos Par 21 , Cromosomas Humanos Par 7 , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Leucemia Mieloide Aguda/genética , Translocación Genética , Bandeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Persona de Mediana EdadRESUMEN
Klinefelter's syndrome is characterized by abnormal karyotype 47, XXY and a phenotype associated with hypogonadism and gynecomastia. Often the disease can be diagnosed accidentally, when carrying out cytogenetic analysis in cases of a malignant blood disease. We present the clinical case of a patient diagnosed with acute myelomonoblastic leukemia-M4 Eo (AML- M4), where by means of classic cytogenetics a karyotype was found corresponding to Klinefelter's syndrome. Three induction courses of polychemotherapy wermade, which led to remission of the disease, documented both flowcytometrically and cytogenetically.
