Next Generation Sequencing As an Aid to Diagnosis and Treatment of an Unusual Pediatric Brain Cancer
نویسندگان
چکیده
Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.
منابع مشابه
Designing and validating an information management software for breast cancer treatment
Background and Aim: Breast cancer is the most common type of cancer in Iran and around the world. It has been recognized as the most significant cause of cancer deaths in developing countries such as Iran. Considering the necessity of accurate and timely diagnosis of this disease, the aim of this research was to design and validate an information management software for the treatment of breast ...
متن کاملWhole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
متن کاملStrategies and Clinical Applications of Next Generation Sequencing
Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput sequencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...
متن کاملIs Colorectal Cancer an Unusual Malignancy among Iranian Children?
Dear Editors: Adenocarcinoma of colon and rectum is the second most common cancer of the gastrointestinal (GI) tract in children. The development of carcinoma of colon in general appears to be associated with several predisposing factors such as familial polyposis, hereditary non-polyposis syndromes, ulcerative colitis, previous ureterosigmoidostomy or radiation therapy and dietary factors (hig...
متن کاملIntestinal Pseudo-Obstruction as an Unusual Gastrointestinal Presentation in Pediatric Human Immunodeficiency Virus Infection
Intestinal pseudo-obstruction is a condition in which the intestine’s ability to push food through is reduced. It often leads to the dilation of the various parts of the bowel. It can be idiopathic or inherited from a parent, or caused by another disease. We report a rare case of human immunodeficiency virus (HIV) infection in a 3-year-old boy who referred with acute abdominal pain, and was lat...
متن کامل