Mayo Clinic Laboratory and Pathology Research Roundup: Nov. 21

By Kelley Luedke • November 21, 2016

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The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.

Featured Abstracts

Common Fragile Sites (CFS) and Extremely Large CFS Genes are Targets for Human Papillomavirus Integrations and Chromosome Rearrangements in Oropharyngeal Squamous Cell Carcinoma

Common fragile sites (CFS) are chromosome regions that are prone to form gaps or breaks in response to DNA replication stress. They are often found as hotspots for sister chromatid exchanges, deletions, and amplifications in different cancers. Many of the CFS regions are found to span genes whose genomic sequence is greater than 1 Mb, some of which have been demonstrated to function as important tumor suppressors. CFS regions are also hotspots for human papillomavirus (HPV) integrations in cervical cancer. Mayo Clinic researchers used mate-pair sequencing to examine HPV integration events and chromosomal structural variations in 34 oropharyngeal squamous cell carcinoma (OPSCC). They used endpoint PCR and Sanger sequencing to validate each HPV integration event and found HPV integrations preferentially occurred within CFS regions similar to what is observed in cervical cancer. Researchers also found that many of the chromosomal alterations detected also occurred at or near the cytogenetic location of CFSs. Several large genes were also found to be recurrent targets of rearrangements, independent of HPV integrations. Sanger sequencing revealed that the nucleotide sequences near to identified junction sites contained repetitive and AT-rich sequences that were shown to have the potential to form stem-loop DNA secondary structures that might stall DNA replication fork progression during replication stress. This could then cause increased instability in these regions which could lead to cancer development in human cells. These findings suggest that CFSs and some specific large genes appear to play important roles in OPSCC. The case was published in Genes Chromosomes Cancer. 

Published to PubMed This Week

• Commentary on the Decision of the American Board of Medical Genetics and Genomics to Create a 24-Month Specialty of Laboratory Genetics and Genomics
  Genetics in Medicine
• Activity of Tedizolid in Methicillin-Resistant Staphylococcus epidermidis Experimental Foreign Body-Associated Osteomyelitis
  Antimicrobial Agents and Chemotherapy
• Rifampin-Based Combination Therapy is Active in Foreign-Body Osteomyelitis after Prior Rifampin Monotherapy
  Antimicrobial Agents and Chemotherapy
• Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1
  American Journal of Pathology
• Hepatic Stellate Cell Selective Disruption of Dynamin-2 GTPase Increases Murine Fibrogenesis through Up-Regulation of Sphingosine-1 Phosphate-Induced Cell Migration
  American Journal of Pathology
• A New Vertebral Body Replacement Strategy Using Expandable Polymeric Cages
  Tissue Engineering Part A
• Incidental EBV-Positivity in Paediatric Post-Transplant Specimens Demonstrates the Need for Stringent Criteria for Diagnosing Post-Transplant Lymphoproliferative Disorders
  Journal of Clinical Pathology
• Synchronous Tumors of the Cerebellopontine Angle
  World Neurosurgery
• A Proof-of-Concept Trial of Protein Kinase C Iota Inhibition with Auranofin for the Paclitaxel-Induced Acute Pain Syndrome
  Support Care Cancer
• Analytical Performance of Three Whole Blood Point-of-Care Lactate Devices Compared to Plasma Lactate Comparison Methods and a Flow-Injection Mass Spectrometry Method
  Clinical Biochemistry
• MR Elastography of Hepatocellular Carcinoma: Correlation of Tumor Stiffness with Histopathology Features-Preliminary Findings
  Magnetic Resonance Imaging
• A Comparison of Tissue-Based and Recombinant Protein-Based Assays for Detecting PCA-Tr/DNER-IgG
  Neurology: Neuroimmunology & Neuroinflammation
• T2 Fluid-Attenuated Inversion Recovery Imaging of Uveal Melanomas and Other Ocular Pathology
  Ocular Oncology and Pathology

Kelley Luedke

Kelley Luedke is a Marketing Channel Manager at Mayo Clinic Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her kitty, and exploring new foods.