Mayo Clinic Laboratory and Pathology Research Roundup: Dec. 18

By Kelley Luedke • December 18, 2017

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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 Abstract

Different Mutational Rates and Mechanisms in Human Cells at Pregastrulation and Neurogenesis

Somatic mosaicism in the human brain may alter function of individual neurons. Mayo Clinic researchers analyzed genomes of single cells from the forebrains of three human fetuses (15 to 21 weeks post-conception) using clonal cell populations. They detected 200-400 single nucleotide variations (SNVs) per cell. SNV patterns resembled those found in cancer cell genomes, indicating a role of background mutagenesis in cancer. SNVs with a frequency of less than 2% in brain were shared with the spleen, revealing a pregastrulation origin. Researchers reconstructed cell lineages for the first five post-zygotic cleavages and calculated a mutation rate of approximately 1.3 per division per cell. Later in development, during neurogenesis, the mutation spectrum shifted toward oxidative damage and the mutation rate increased. Both neurogenesis and early embryogenesis exhibit drastically more mutagenesis than adulthood. The study was published in Science.

Published to PubMed This Week

• • Case Report of an Adolescent Male With Unexplained Pancytopenia: GATA2-Associated Bone Marrow Failure and Genetic Testing
    Global Pediatric Health
  • Nodular Lymphocyte Predominant Hodgkin Lymphoma of the Ileum
    Case Reports in Pathology
  • MIPSS70: Mutation-Enhanced International Prognostic Score System for Transplantation-Age Patients With Primary Myelofibrosis
    Journal of Clinical Oncology
  • Fibrolamellar Carcinoma in the Carney Complex: PRKAR1A Loss Instead of the Classic DNAJB1-PRKACA Fusion
    Hepatology
  • Distinct Spatiotemporal Accumulation of N-Truncated and Full-Length Amyloid-β42 in Alzheimer's Disease
    Brain
  • Retention of Interstitial Genes between TMPRSS2 and ERG Is Associated with Low-Risk Prostate Cancer
    Cancer Research
  • Autoimmune CRMP5 Neuropathy Phenotype and Outcome Defined From 105 Cases
    Neurology
  • High-Resolution, Accurate-Mass (HRAM) Mass Spectrometry Urine Steroid Profiling in the Diagnosis of Adrenal Disorders
    Clinical Chemistry
  • Brief Report: A Novel ELANE Mutation Associated With Inflammatory Arthritis, Defective NETosis, and Recurrent Parvovirus Infection
    Arthritis & Rheumatology
  • The Incidence of Primary vs Secondary Focal Segmental Glomerulosclerosis: A Clinicopathologic Study
    Mayo Clinic Proceedings
  • Mucinous Adenocarcinoma of Unknown Primary Presenting with Dysphagia
    Gastrointestinal Endoscopy
  • Using High-Sensitivity Cardiac Troponin T for Acute Cardiac Care
    American Journal of Medicine
  • Radical Nephrectomy With or Without Lymph Node Dissection for High-Risk Non-Metastatic Renal Cell Carcinoma: A Multi-Institutional Analysis
    Journal of Urology
  • Comparison of Pathological and Oncologic Outcomes in "Favorable Risk" GS 3+4 and Low Risk GS6 Prostate Cancer: Considerations for Active Surveillance
    Journal of Urology
  • Outcomes After Early and Delayed Carotid Endarterectomy in Patients with Symptomatic Carotid Artery Stenosis
    Journal of Vascular Surgery
  • The Dangers of the "Head Down" Position in Patients with Untreated Pituitary Macroadenomas: Case Series and Review of Literature
    Pituitary
  • Inflammatory Hepatic Adenomas: Characterization with Hepatobiliary MRI Contrast Agents
    Magnetic Resonance Imaging
  • Spheroid-Type of AL Amyloid Deposition Associated with Colonic Adenocarcinoma: A Case Report with Literature Review
    Pathology International
  • Plasma Exchange in Thrombotic Microangiopathies (TMAs) Other Than Thrombotic Thrombocytopenic Purpura (TTP)
    Hematology ASH Education Program
  • Histologic Regression of Fibrillary Glomerulonephritis: The First Report of Biopsy-Proven Spontaneous Resolution of Disease
    Clinical Kidney Journal

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.