Mayo Clinic Laboratory and Pathology Research Roundup: Feb. 5

By Kelley Luedke • February 5, 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

Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease if Identified but Fatal if Missed

Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes, which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not a recognized manifestation of this disease, and cirrhosis has been reported only once in the medical literature. Mayo Clinic researchers describe a fatal case of a 21-year-old South Asian male who presented with decompensated cirrhosis and biochemical abnormalities consistent with sitosterolemia. Genetic testing showed a homozygous pathogenic mutation in ABCG5, confirming the diagnosis. Sitosterolemia is a rare, but likely under-recognized condition, and a high degree of suspicion is imperative to make the diagnosis. Researchers propose that sitosterolemia should be included in the differential diagnosis for patients with cryptogenic cirrhosis, especially as there are effective oral therapies to treat this condition. Newly diagnosed sitosterolemia patients should undergo a thorough hepatology evaluation and follow-up to evaluate for the presence, development, and progression of any hepatic involvement. The study was published in Annals of Hepatology.

Published to PubMed This Week

• • FGFR1 Rearranged Hematological Neoplasms - Molecularly Defined and Clinically Heterogeneous
    Leukemia & Lymphoma
  • Abdominopelvic and Retroperitoneal Low-Grade Fibromyxoid Sarcoma: A Clinicopathologic Study of 13 Cases
    American Journal of Clinical Pathology
  • Integrated Analysis of HER2 Copy Number by Cytogenomic Microarray in Breast Cancers With Nonclassical In Situ Hybridization Results
    American Journal of Clinical Pathology
  • Crystal-Storing Histiocytosis in Bone Marrow: A Clinicopathologic Study of Eight Cases and Review of the Literature
    American Journal of Clinical Pathology
  • Common Genetic Variation and Breast Cancer Risk - Past, Present, and Future
    Cancer Epidemiology, Biomarkers & Prevention
  • Development of a Real-Time PCR Method for Quantification of Prevotella Histicola from the Gut
    Anaerobe
  • Treponema Pallidum Immunohistochemistry is Positive in Human Intestinal Spirochetosis
    Diagnostic Pathology

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.