Targeted Next-Generation Sequencing for Detecting MLL Gene Fusions in Leukemia

Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma

138 papillary thyroid carcinoma (PTC) samples were assessed for somatic mutation profile and fusion genes by targeted resequencing using a cancer panel (ThyGenCapTM) targeting 244 cancer-related genes and 20 potential fusion genes. At least one genetic alteration (including mutations and fusion genes) was observed in 118/138 (85.5%) samples. The most frequently mutated gene was BRAF V600E (57.2...

MLL fusions: pathways to leukemia.

Human leukemias with chromosomal band 11q23 aberrations that disrupt the MLL/HRX/ALL-1 gene portend poor prognosis. MLL associated leukemias account for the majority of infant leukemia, approximately 10% of adult de novo leukemia and approximately 33% of therapy related acute leukemia with a balanced chromosome translocation. The 500 kD MLL precursor is processed by Taspase1 to generate mature ...

Practice guidelines for Targeted Next Generation Sequencing

DNA sequencing is the most commonly used approach for mutation scanning and is widely regarded as the gold standard. Agreed practice guidelines for both the sequencing process and data analysis are important to achieve a high quality approach, with common quality standards across different laboratories. These guidelines do not constitute an experimental protocol or troubleshooting guide, rather...

Targeted Next-Generation Sequencing for Forensic Genomics

Next-Generation Sequencing: Targeting Targeted Therapies.

Next-generation sequencing (NGS) has given new perspective in oncology. With the ongoing development of targeted therapies, NGS is evolving molecular diagnostics by providing comprehensive interrogation of clinically actionable genomic aberrations in tumors. Having this assay as the primary testing method produces clinically beneficial results. See related article by Drilon et al., p. 3631.