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.
Change in Pattern of HER2 Fluorescent in Situ Hybridization (FISH) Results in Breast Cancers Submitted for FISH Testing
In 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
Mayo 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
The 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
- TREM2 p.R47H Substitution is Not Associated with Dementia with Lewy Bodies
- High Risk of Post-Infectious Irritable Bowel Syndrome in Patients with Clostridium Difficile Infection
Alimentary Pharmacology & Therapeutics
- Characterization of FN1-FGFR1 and Novel FN1-FGF1 Fusion Genes in a Large Series of Phosphaturic Mesenchymal Tumors
- Error in Complementary DNA Nomenclature in "Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa"
- Early Event Status Informs Subsequent Outcome in Newly Diagnosed Follicular Lymphoma
American Journal of Hematology
- Ciliated Muconodular Papillary Tumors of the Lung Can Occur in Western Patients and Show Mutations in BRAF and AKT1
American Journal of Surgical Pathology
- Clinical Outcomes of TP53 Mutations in Cancers
Cold Spring Harbor Perspectives in Medicine
- Recommendations for the Prophylactic Management of Skin Reactions Induced by Epidermal Growth Factor Receptor Inhibitors in Patients With Solid Tumors
- Correction for Hasassri et al., An Immunocompromised Child with Bloodstream Infection Caused by Two Escherichia coli Strains, One Harboring NDM-5 and the Other Harboring OXA-48-Like Carbapenemase
Antimicrobial Agents and Chemotherapy
- Erratum for Norgan et al., Carbapenem- and Colistin-Resistant Enterobacter cloacae from Delta, Colorado, in 2015
Antimicrobial Agents and Chemotherapy
- Fusion Gene Profile of Biphenotypic Sinonasal Sarcoma: An Analysis of 44 Cases
- Ideal Hemoglobin Transfusion Target for Resuscitation of Massive-Transfusion Patients
- Interleukins 6 and 8 and Abdominal Fat Depots are Distinct Correlates of Lipid Moieties in Healthy Pre- and Postmenopausal Women
- The Inflammatory Microenvironment in Epithelial Ovarian Cancer: A Role for TLR4 and MyD88 and Related Proteins
- HIV-1 Subtype Diversity Among Clinical Specimens Submitted for Routine Antiviral Drug Resistance Testing in the United States
Diagnostic Microbiology and Infectious Disease
- The Effect of Hospital Volume on Resection Margins in Rectal Cancer Surgery
Journal of Surgical Research
- Concordance of Pathologic Features between Metastatic Sites and the Primary Tumor in Surgically Resected Metastatic Renal Cell Carcinoma