A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation.

Among brain tumors, the BRAF (V600E) mutation is frequently associated with pleomorphic xanthoastrocytomas (PXAs) and gangliogliomas (GGs). This oncogenic mutation is also detected in ~5 % of other pediatric low-grade gliomas (LGGs) including pilocytic astrocytomas (PAs) and diffuse astrocytomas. In the current multi-institutional study of 56 non-PXA/non-GG diencephalic pediatric LGGs, the BRAF (V600) mutation rate is 36 %. V600-mutant tumors demonstrate a predilection for infants and young children (

Characterization of breast cancers with PI3K mutations in an academic practice setting using SNaPshot profiling.

Mutations in the PIK3CA gene are common in breast cancer and represent a clinically useful therapeutic target. Several larger, population-based studies have shown a positive prognostic significance associated with these mutations. This study aims to further identify characteristics of patients harboring PIK3CA mutations while evaluating the clinical impact of genomic testing for these mutations. Tumors from 312 patients at Vanderbilt-Ingram Cancer Center were analyzed for PIK3CA mutations using a multiplex screening assay (SNaPshot). Mutation rates, receptor status, histopathologic characteristics, and time to recurrence were assessed. The number of patients participating in clinical trials, specifically trials relating to the PIK3CA mutation, was examined. Statistically significant differences between wild-type and mutated tumors were determined using the Wilcoxon, Pearson, and Fischer exact tests. The PIK3CA mutation was found in 25 % of tumors tested. Patients with PIK3CA mutations were significantly more likely to express hormone receptors, be of lower combined histological grade, and have a reduced time to recurrence. Patients found to have a PIK3CA mutation were significantly more likely to enter a PIK3CA-specific clinical trial. In addition to confirming previously established positive prognostic characteristics of tumors harboring PIK3CA mutations, this study demonstrates the feasibility and utility of mutation profiling in a clinical setting. PIK3CA mutation testing impacted treatment and resulted in more patients entering mutation-specific clinical trials.

Aspiration pneumonia and esophagotracheal fistula secondary to button battery ingestion.

We report a case of acute bronchopneumonia and esophagotracheal fistula caused by a swallowed button battery in a 3-year-old girl. It was unclear exactly how long the battery had been trapped in the esophagus. The patient had undergone a tonsillectomy and adenoidectomy 3 weeks before the battery was finally exposed on an X-ray film. She refused to eat solid food after the surgery and stopped eating completely 10 days later. Three weeks after surgery, she presented to the Emergency Department with vomiting and acute respiratory distress, experienced cardiopulmonary arrest in the intensive care unit and could not be resuscitated. Postmortem examination revealed severe acute bronchopneumonia and massive blood aspiration due to an esophagotracheal fistula secondary to a button battery lodged in the esophagus. This case highlights the importance of including a swallowed button battery in the differential diagnosis of a toddler with dysphagia and anorexia.

Elemental Testing Using Inductively Coupled Plasma Mass Spectrometry in Clinical Laboratories.

OBJECTIVES: This review aims to describe the principles underlying different types of inductively coupled plasma mass spectrometry (ICP-MS), and major technical advancements that reduce spectral interferences, as well as their suitability and wide applications in clinical laboratories. METHODS: A literature survey was performed to review the technical aspects of ICP-MS, ICP-MS/MS, high-resolution ICP-MS, and their applications in disease diagnosis and monitoring. RESULTS: Compared to the atomic absorption spectrometry and ICP-optical emission spectrometry, ICP-MS has advantages including improved precision, sensitivity and accuracy, wide linear dynamic range, multielement measurement capability, and ability to perform isotopic analysis. Technical advancements, such as collision/reaction cells, triple quadrupole ICP-MS, and sector-field ICP-MS, have been introduced to improve resolving power and reduce interferences. Cases are discussed that highlight the clinical applications of ICP-MS including determination of toxic elements, quantification of nutritional elements, monitoring elemental deficiency in metabolic disease, and multielement analysis. CONCLUSIONS: This review provides insight on the strategies of elemental analysis in clinical laboratories and demonstrates current and emerging clinical applications of ICP-MS.