Mayo Clinic Laboratory and Pathology Research Roundup: Aug. 1

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

Featured Abstracts

Change in Pattern of HER2 Fluorescent in Situ Hybridization (FISH) Results in Breast Cancers Submitted for FISH Testing

shutterstock_392445517In 1998, the U.S. Food and Drug Administration (FDA) approved human epidermal growth factor receptor 2 (HER2) testing guidelines to determine eligibility for HER2-directed therapy (HDT) in breast cancer. ASCO and the College of American Pathologists published immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH) HER2 testing guidelines in 2007 (AC2007) and updated these guidelines in 2013 (AC2013). Mayo Clinic researchers compared the HER2 FISH amplification frequency using these guidelines. According to the results, AC2013 guidelines led to a larger number of FISH-equivocal patients. Approximately one half of these FISH-equivocal patients became HER2-positive upon alternative FISH probe testing. The study was published in the Journal of Clinical Oncology

Curative Ex Vivo Liver-Directed Gene Therapy in a Pig Model of Hereditary Tyrosinemia Type 1

test-tubes-16-x-9Mayo Clinic researchers tested the hypothesis that ex vivo hepatocyte gene therapy can correct the metabolic disorder in fumarylacetoacetate hydrolase-deficient (Fah(-/-)) pigs, a large animal model of hereditary tyrosinemia type 1 (HT1). This study demonstrates correction of disease in a pig model of metabolic liver disease by ex vivo gene therapy. To date, ex vivo gene therapy has only been successful in small animal models. Mayo Clinic researchers concluded that further exploration of ex vivo hepatocyte genetic correction is warranted for clinical use. The study was published in Science Translational Medicine.

Quantification of Circulating Clonal Plasma Cells via Multiparametric Flow Cytometry Identifies Patients with Smoldering Multiple Myeloma at High Risk of Progression

MultipleMyeloma_960x540The presence of high numbers of circulating clonal plasma cells (cPCs) in patients with smoldering multiple myeloma, detected by a slide-based immunofluorescence assay, has been associated with a shorter time to progression to multiple myeloma. The significance of quantifying cPCs via multiparameter flow cytometry, a much more readily available diagnostic modality, in patients with smoldering multiple myeloma has not been evaluated. According to the results, quantification of cPCs via multiparametric flow cytometry identifies patients with smoldering multiple myeloma at very high risk of progression to multiple myeloma within 2 years and warrants confirmation in larger studies. In the future, this may allow reclassification of such patients as having multiple myeloma requiring therapy prior to them enduring end-organ damage. The study was published in Leukemia

Published to PubMed This Week

brentwestra (@brentwestra)


Brent Westra is a Marketing Segment Manager at Mayo Clinic Laboratories. He leads marketing strategies for product management and specialty testing along with new media innovations. Brent has worked at Mayo Clinic since 2011.