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1.
Blood ; 123(9): 1293-6, 2014 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-24345752

RESUMEN

The genetics of angioimmunoblastic T-cell lymphoma (AITL) are very poorly understood. We defined the mutational landscape of AITL across 219 genes in 85 cases from the United States and Europe. We identified ≥2 mutations in 34 genes, nearly all of which were not previously implicated in AITL. These included loss-of-function mutations in TP53 (n = 4), ETV6 (n = 3), CCND3 (n = 2), and EP300 (n = 5), as well as gain-of-function mutations in JAK2 (n = 2) and STAT3 (n = 4). TET2 was mutated in 65 (76%) AITLs, including 43 that harbored 2 or 3 TET2 mutations. DNMT3A mutations occurred in 28 (33%) AITLs; 100% of these also harbored TET2 mutations (P < .0001). Seventeen AITLs harbored IDH2 R172 substitutions, including 15 with TET2 mutations. In summary, AITL is characterized by high frequencies of overlapping mutations in epigenetic modifiers and targetable mutations in a subset of cases.


Asunto(s)
Linfadenopatía Inmunoblástica/genética , Linfoma de Células T/genética , Mutación , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Análisis Mutacional de ADN , Femenino , Frecuencia de los Genes , Humanos , Linfadenopatía Inmunoblástica/epidemiología , Linfoma de Células T/epidemiología , Masculino , Persona de Mediana Edad
2.
AJR Am J Roentgenol ; 189(3): 523-6, 2007 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-17715095

RESUMEN

OBJECTIVE: At academic institutions, overnight emergency radiology examinations are interpreted by the on-call radiology resident and are reviewed by an attending radiologist in the morning. The objective of our study was to determine the rate of discrepancies between the two interpretations and the possible effect, if any, on patient care. MATERIALS AND METHODS: The preliminary reports for 11,908 emergency diagnostic imaging examinations interpreted after hours by residents over a 3-year period (January 2002-January 2005) were reviewed retrospectively for any discrepancy with the attending radiologist's final interpretation. A discrepancy was noted if verbal notification of the ordering physician was required. The medical charts of the cases for which there was a major discrepancy between the two interpretations were reviewed. The discrepancies were categorized as to the effect on patient morbidity. The resident discrepancy rates were also compared with RADPEER data from our institution. RESULTS: The overall major discrepancy rate was 2.6%. This rate is comparable to RADPEER data, which found a misinterpretation rate of 2.1%. The technique most commonly involved in cases with discrepant interpretations was contrast-enhanced CT of the abdomen and pelvis, with the most common diagnosis related to acute appendicitis (total of 21 cases). The rate of discrepancy was highest for residents who were in their third year of training. The indications for these examinations varied; however, the effect on patient management was no significant effect in 92.8%, some negative effect in 6.9%, and significant negative effect in 0.3%. CONCLUSION: The results of this investigation highlight the minimal discrepancy rate that occurs with overnight resident coverage. Thus, there is no detrimental effect on the quality of patient care from relying on preliminary interpretations made by radiology residents.


Asunto(s)
Errores Diagnósticos/estadística & datos numéricos , Hospitales Comunitarios/estadística & datos numéricos , Internado y Residencia/estadística & datos numéricos , Médicos/estadística & datos numéricos , Garantía de la Calidad de Atención de Salud/estadística & datos numéricos , Radiología/estadística & datos numéricos , Tomografía Computarizada por Rayos X/estadística & datos numéricos , Humanos , New Jersey , Variaciones Dependientes del Observador , Atención al Paciente/estadística & datos numéricos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
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