PURPOSE Mutations in the fibroblast growth factor receptor 3 (FGFR3) occur in 50% of primary bladder tumors. An FGFR3 mutation is associated with good prognosis, illustrated by significantly lower percentage of patients with progression and disease-specific mortality. FGFR3 mutations are especially prevalent in low grade/stage tumors, with pTa tumors harboring mutations in 85% of the cases. The...

Exon 2 deletion in aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2) has been suggested to be associated with the progression of various cancers such as lung and ovarian cancers. However, few studies have been conducted regarding detection and relevance of exon 2-deleted AIMP2 (AIMP2-DX2) mutation to a specific cancer. Here, we demonstrate the rapid and simple dete...

1. Mutation Detection: An Introduction This chapter provides a broad overview of the range of mutation detection techniques that are now available. For the purposes of this chapter, a mutation can be defined as a sequence change in a test sample compared with the sequence of a reference standard. This definition implies nothing about the phenotypic consequences (e.g., pathogenicity) of a mutati...

BACKGROUND Detection of mutations by gel electrophoresis and allele-specific amplification by PCR (AS-PCR) is not easily scaled to accommodate a large number of samples. Alternative electrophoretic formats, such as capillary electrophoresis (CE) and microchip electrophoresis, may provide powerful platforms for simple, fast, automated, and high-throughput mutation detection after allele-specific...

conclusions according to this study, igvh3 mutation was found to be prevalent (although a correlation was found to exist between the patients’ survival and igvh mutation, it was not statistically significant). we can conclude that clinical methods are still valuable to predict the prognosis of patients with cll. given the high cost and need for specialized laboratory, determining the cost and v...

background: minimal residual disease (mrd) tests provide early identification of hematologic relapse and timely management of acute myeloid leukemia (aml) patients. approximately, 50% of aml patients do not have clonal chromosomal aberrations and categorize as a cytogenetically normal acute myeloid leukemia (cn-aml). about 60% of adult cn-aml has a mutation in exon 12 of npm1 gene. this mutatio...

Medullary thyroid cancer accounts for 5-10% of thyroid carcinomas. RET proto-oncogene mutations occur in all of the hereditary MTCs and about 66% of the sporadic MTCs. So, the detection of the RET mutations is necessary for rapid and proper diagnosis and treatment. This systematic review seeks to find a comprehensive list of RET gene mutations in the diagnosis of medullary thyroid cancer. The ...