A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma
ONCOTARGETS AND THERAPY
Authors: Zhao, Yuan-Yuan; Liu, Lin; Zhou, Ting; Zhou, Ning-Ning; Yang, Yun-Peng; Hou, Xue; Li, Yong; Zhao, Hong-Yun; Huang, Yan; Zhang, Li
Abstract
Purpose: The aim of this study was to analyze and summarize the clinicopathological and molecular characteristics of classic biphasic pulmonary blastoma (PB) to improve its diagnosis and treatment. Patients and methods: A retrospective analysis was performed in patients who were diagnosed with PB at Sun Yat-Sen University Cancer Center from March 1995 to March 2015. Genomic DNA was profiled using a capture-based targeted sequencing panel. Results: Sixteen patients with an average age of 40 years were included in this study. Accurate preoperative diagnosis was very challenging as surgically resected tissues with immunohistochemical staining were required for the diagnosis. Surgery was the optimal treatment for localized disease and there was no standard management for metastatic disease. Mutations were detected among 9 out of the 56 genes profiled, including BRCA2, ERBB4, ALK, MET, BRAF, RAF1, PTEN, EGFR, and PIK3CA. Conclusion: Due to the low incidence rate and the reclassification of PB, no standard treatment is available. Although the numbers of cases are few with varying individual experiences, it is important to improve our understanding regarding this rare lung cancer. Targeted DNA sequencing may be of clinical use for molecular testing and the effects of targeted therapy need to be confirmed.
PPM1A Methylation Is Associated With Vascular Recurrence in Aspirin-Treated Patients
STROKE
Authors: Gallego-Fabrega, Cristina; Carrera, Caty; Reny, Jean-Luc; Fontana, Pierre; Slowik, Agnieszka; Pera, Joanna; Pezzini, Alessandro; Serrano-Heras, Gemma; Segura, Tomas; Bin Dukhyil, Abdul-Aziz A.; Marti-Fabregas, Joan; Muino, Elena; Cullell, Natalia; Montaner, Joan; Krupinski, Jerzy; Fernandez-Cadenas, Israel
Abstract
Background and Purpose-Despite great efforts by pharmacogenetic studies, the causes of aspirin failure to prevent the recurrence of ischemic events remain unclear. Our aim was to study whether epigenetics could be associated with the risk of vascular recurrence in aspirin-treated stroke patients. Methods-We performed an epigenetic joint analysis study in 327 patients treated with aspirin. In the discovery stage, we performed a nested case-control study in 38 matched ischemic stroke patients in whom 450000 methylation sites were analyzed. Nineteen patients presented vascular recurrence after stroke, and 19 matched patients did not present vascular recurrence during the first year of follow-up. In a second stage, 289 new patients were analyzed by EpiTYPER. Results-The following 3 differentially methylated candidate CpG sites, were identified in the discovery stage and analyzed in the second stage: cg26039762 (P=9.69x10(-06), RAF1), cg04985020 (P=3.47x10(-03), PPM1A), and cg08419850 (P=3.47x10(-03), KCNQ1). Joint analysis identified an epigenome-wide association for cg04985020 (PPM1A; P=1.78x10(-07)), with vascular recurrence in patients treated with aspirin. Conclusions-The pattern of differential methylation in PPM1A is associated with vascular recurrence in aspirin-treated stroke patients.