Germ-line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. DICER1 is a recently described cancer-predisposition gene located at 14q32.13. We report the case of a male child with a ∼5.8 Mbp 14q32.13q32.2 germ-line deletion, which included the full DICER1 locus. We reviewed available clinical and pathological material, and conducted genetic analyses. In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 y: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers). He also developed a cerebral spindle-cell sarcoma with myogenous differentiation. Our investigations revealed that the deletion encompassed 31 protein-coding genes. In addition to the germ-line DICER1 deletion, somatic DICER1 RNase IIIb mutations were found in the CBME (c.5437G > A, p.E1813K), pCN (c.5425G > A, p.G1809R), and sarcoma (c.5125G > A, p.D1709N). The sarcoma also harbored a somatic TP53 mutation: c.844C > T, p.R282W. Additional copy number alterations were identified in the CBME and sarcoma using an OncoScan array. Among the 8 cases with molecularly-defined 14q32 deletions involving DICER1 and for whom phenotypic information is available, our patient and one other developed DICER1-related tumors. Biallelic DICER1 mutations have not previously been reported to cause cerebral sarcoma, which now may be considered a rare manifestation of the DICER1 syndrome. Our study shows that DICER1-related tumors can occur in children with 14q32 deletions and suggests surveillance for such tumors may be warranted.
Mujer de 26 años de edad que ingresa al servicio de urgencias deshidratada, en malas condiciones generales, con cuadro de diarrea de alto gasto asociada con dolor abdominal. Refiere antecedentes de asma en tratamiento con corticoterapia, neumonía bacteriana hace seis meses para la que recibió tratamiento por tres meses, con presencia de nódulo pulmonar sin etiología determinada. Durante la hospitalización presenta deterioro progresivo con signos de inflamación sistémica y fallece al tercer día de hospitalización. En el estudio macroscópico se observó el pericardio adherido al pulmón derecho, que al cortarlo hay salida de líquido purulento, aproximadamente 500 cc (figura 1A). En el lóbulo medio del pulmón derecho se reconoce absceso pulmonar y fistula que comunica al pericardio (figura 1B). El examen microscópico revela en el parénquima pulmonar y en la luz bronquial ramificación filamentosa de Actinomyces spp, asociado con infiltrado agudo y crónico en la periferia (figura 2).
Introducción: un evento de muerte súbita supone un gran impacto para la sociedad, siendo importante su estudio para aportar conocimiento y fortalecer estrategias de promoción y prevención. Objetivo: determinar la prevalencia de los diagnósticos anatomopatológicos cardiacos definitivos y los hallazgos histopatológicos asociados con la muerte súbita de origen cardíaco en los pacientes sometidos a autopsias clínicas realizadas en el Hospital de San José de Bogotá DC, Colombia, durante el período 2015 a 2018. Métodos: estudio descriptivo de corte transversal retrospectivo en pacientes a quienes se les realizó autopsia con diagnóstico de muerte súbita de origen cardiovascular en el servicio de patología del Hospital de San José, Bogotá DC, Colombia. Resultados: se incluyeron 178 autopsias con diagnóstico de muerte súbita cardíaca. El promedio global de edad fue 56.1 años (DE: 15.06) con una relación hombre-mujer de 3:1. El hallazgo macroscópico más frecuente fue cardiomegalia (promedio 428.1 g (DE 112.8), acompañado de la presencia de coronariopatía esclerótica (p=0.000) con obstrucción de la luz de las arterias coronarias mayores de 80% (p=0.037). Conclusiones: los diagnósticos anatomopatológicos definitivos prevalentes en la muerte súbita cardiaca fueron cardiopatía isquémica crónica complicada (65%) e infarto agudo de miocardio (16%), datos similares a los reportados a nivel mundial. La cardiomegalia es un hallazgo frecuente que debe valorarse en forma cuidadosa.
The study aimed to measure the agreement between the clinical and anatomopathological results of children who died with pneumonia from two pediatric intensive care units. Pediatric patients chosen were those who died between January 2008 and December 2015. The agreement was tested with Kappa. A total of 111 autopsies were included. Upon autopsy, 58 had pneumonia, 33 had it clinically and pathologically, 24 only clinically, and one only in autopsy. The Kappa agreement was 0.5 (95% confidence interval of 0.4 to 0.7). The level of agreement between the clinic and the autopsy is moderate. However, the consistency in cases of clinical pneumonia is low.
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