Mayo Clinic Laboratory and Pathology Research Roundup: April 2

By Kelley Luedke • April 2, 2018

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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

Patterns of Homozygosity in Patients with Uniparental Disomy: Detection Rate and Suggested Reporting Thresholds for SNP Microarrays

Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, uniparental disomy, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards. Of the cases, 27 of 84 with uniparental disomy had no significant LCSH on the involved chromosome. Fifty uniparental disomy-positive samples had LCSH of varying sizes: the average size of terminal LCSH was 11.0 megabases while the average size of interstitial LCSH was 24.1 megabases. LCSH in the normal population tended to be much smaller (average 4.3 megabases) and almost exclusively interstitial; however, overlap between the populations was noted. Mayo Clinic researchers hope that this work will aid clinical laboratories in the recognition and reporting of LCSH. The study was published in Genetics in Medicine.

Published to PubMed This Week

• • • • • Scutal Index and Its Role in Guiding Prophylaxis for Lyme Disease Following Tick Bite
          Clinical Infectious Diseases
        • Demographics and Clinical Characteristics of Episodic Hypothermia in Multiple Sclerosis
          Multiple Sclerosis
        • Recurrent GNA14 Mutations in Anastomosing Hemangiomas
          Histopathology
        • Identification of Compound Heterozygous Variants in OPTN in an ALS-FTD Patient from the CReATe Consortium: A Case Report
          Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
        • Mesenchymal Chondrosarcomas Showing Immunohistochemical Evidence of Rhabdomyoblastic Differentiation: A Potential Diagnostic Pitfall
          Human Pathology
        • A Rapid and Reliable Chromosome Analysis Method for Products of Conception Using Interphase Nuclei
          Molecular Genetics & Genomic Medicine
        • Tropheryma Whipplei Infection (Whipple Disease) in the USA
          Digestive Diseases and Sciences
        • Nonhepatosplenic Extramedullary Manifestations of Chronic Myelomonocytic Leukemia: Clinical, Molecular and Prognostic Correlates
          Leukemia & Lymphoma
        • Consequences of B-cell-Depleting Therapy: Hypogammaglobulinemia and Impaired B-cell Reconstitution
          Immunotherapy
        • Vascular Tumors in Infants: Case Report and Review of Clinical, Histopathologic, and Immunohistochemical Characteristics of Infantile Hemangioma, Pyogenic Granuloma, Noninvoluting Congenital Hemangioma, Tufted Angioma, and Kaposiform Hemangioendothelioma
          The American Journal of Dermatopathology
        • Implementation of a New Guideline and Educational Sessions to Reduce Low-Value Continuous Pulse Oximetry Among Hospitalized Patients
          Southern Medical 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.