RESUMEN
Objective Posterior fossa meningiomas are surgically challenging tumors that are associated with high morbidity and mortality. We sought to investigate the anatomical distribution of clinically actionable mutations in posterior fossa meningioma to facilitate identifying patients amenable for systemic targeted therapy trials. Methods Targeted sequencing of clinically targetable AKT1 , SMO , and PIK3CA mutations was performed in 61 posterior fossa meningioma using Illumina NextSeq 500 to a target depth of >500 × . Samples were further interrogated for 53 cancer-relevant RNA fusions by the Archer FusionPlex panel to detect gene rearrangements. Results AKT 1 ( E17K ) mutations were detected in five cases (8.2%), four in the foramen magnum and one in the cerebellopontine angle. In contrast, none of the posterior fossa tumors harbored an SMO ( L412F ) or a PIK3CA ( E545K ) mutation. Notably, the majority of foramen magnum meningiomas (4/7, 57%) harbored an AKT1 mutation. In addition, common clinically targetable gene fusions were not detected in any of the cases. Conclusion A large subset of foramen magnum meningiomas harbor AKT1 E17K mutations and are therefore potentially amenable to targeted medical therapy. Genotyping of foramen magnum meningiomas may enable more therapeutic alternatives and guide their treatment decision process.
RESUMEN
BACKGROUND: The FilmArray Respiratory Panel (RP) detects multiple pathogens, including Bordetella pertussis. The multiplex PCR system is appropriate for a core laboratory or point of care due to ease of use. The purpose of this study is to compare the analytical sensitivity of the FilmArray RP, which targets the promoter region of the B. pertussis toxin gene, with the Focus real-time PCR assay, which targets the insertion sequence IS481. METHODS: Seventy-one specimens from patients aged 1â month to 18â years, which had tested positive for B. pertussis using the Focus assay, were analysed using the FilmArray RP. RESULTS: Forty-six specimens were positive for B. pertussis by both the Focus and the FilmArray RP assays. Twenty-five specimens were negative for B. pertussis using the FilmArray RP assay, but positive using the Focus assay. CONCLUSIONS: The FilmArray RP assays will detect approximately 1/3 less cases of B. pertussis than the Focus assay.
Asunto(s)
Bordetella pertussis/genética , ADN Bacteriano/genética , Reacción en Cadena de la Polimerasa Multiplex , Toxina del Pertussis/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Tos Ferina/diagnóstico , Adolescente , Bordetella pertussis/patogenicidad , Niño , Preescolar , Marcadores Genéticos , Humanos , Lactante , Valor Predictivo de las Pruebas , Regiones Promotoras Genéticas , Reproducibilidad de los Resultados , Tos Ferina/microbiologíaRESUMEN
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