Mayo Clinic Laboratory and Pathology Research Roundup: Dec. 24

By Kelley Luedke • December 24, 2018

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

Featured Abstract

Determining the Clinical Validity of Hereditary Colorectal Cancer and Polyposis Susceptibility Genes Using the Clinical Genome Resource Clinical Validity Framework

Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework. Forty-two gene-disease pairs were assessed for strength of evidence supporting an association with hereditary colorectal cancer and/or polyposis. Genetic and experimental evidence supporting each gene-disease relationship was curated independently by two trained biocurators. Evidence was reviewed with experts and assigned a final clinical validity classification. Clinicians and laboratory diagnosticians should note that <60% of the genes on clinically available panels have Strong or Definitive evidence of association with hereditary colon cancer or polyposis, and >40% have only Moderate, Limited, Disputed, or Refuted evidence. Continuing to expand the structured assessment of the clinical relevance of genes listed on hereditary cancer testing panels will help clinicians and diagnostic laboratories focus the communication of genetic testing results on clinically significant genes. The study was published in Genetics in Medicine.

Published to PubMed This Week

• • • • • Crossing a New Threshold: Use of Elevated (1,3)-Beta-D-Glucan Levels to Distinguish Causation from Colonization in Pneumocystis jirovecii PCR Positive Cancer Patients
          Clinical Infectious Diseases
        • Intracholecystic Papillary-Tubular Neoplasm of the Gallbladder
          Mayo Clinic Proceedings
        • Sonication Culture of Antimicrobial Agent-Containing Cement Spacers Removed During Staged Revisions for Arthroplasty Infection
          Journal of Clinical Microbiology
          
        • Evaluation of a Rapid Immunochromatographic Assay and Two Enzyme-Linked Immunosorbent Assays for Detection of IgM-class Antibodies to Zika Virus
          Journal of Clinical Microbiology
        • Long-Term Mortality Trends After Revision Total Knee Arthroplasty
          Journal of Arthroplasty
          
        • Routine Use of MALDI-TOF MS for Anaerobic Bacterial Identification in Clinical Microbiology
          Anaerobe
          
        • Desmoplastic Small Round Cell Tumors With Atypical Presentations: A Report of 34 Cases
          International Journal of Surgical Pathology
        • False-negative Rates for MYC FISH Probes in B-cell Neoplasms
          Haematologica
          
        • Urinary Gadolinium Levels After Contrast-Enhanced MRI in Individuals with Normal Renal Function: a Pilot Study
          Journal of Medical Toxicology

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.