RESUMEN
Hematooncologic patients often host rare or fastidious pathogens. Using 16S rDNA sequencing and transmission electron microscopy, we have identified 2 lymphoma patients infected with Candidatus Neoehrlichia mikurensis. In both individuals, the clinical presentation suggested ehrlichiosis-like syndrome. We believe that molecular techniques open new vistas in the field of pathogen detection.
Asunto(s)
Infecciones por Anaplasmataceae/diagnóstico , Anaplasmataceae/clasificación , Anaplasmataceae/aislamiento & purificación , Técnicas de Diagnóstico Molecular , Anaplasmataceae/genética , Infecciones por Anaplasmataceae/complicaciones , Animales , ADN Bacteriano/genética , ADN Ribosómico/genética , Ehrlichiosis/diagnóstico , Femenino , Fiebre de Origen Desconocido/diagnóstico , Fiebre de Origen Desconocido/microbiología , Neoplasias Hematológicas/complicaciones , Humanos , Huésped Inmunocomprometido , Masculino , Microscopía Electrónica , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Garrapatas/microbiologíaRESUMEN
TP53 plays a pivotal role in the process of DNA repair and apoptosis. In 10-20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed.