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Mayo Clinic Laboratory and Pathology Research Roundup: Feb. 22

By Kelley Luedke • February 22, 2016

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 Study of the Week

Method for Counting Tumor Budding in Colorectal Carcinoma Could Have Immediate and Powerful Prognostic Value in General Practice

Colon-Cancer-960x540In a recent study, Mayo Clinic researchers, in collaboration with other institutions, have shown that “high” tumor budding in patients with colorectal carcinoma (CRC) is independently associated with a significantly worse prognosis. CRC ranks second in cancer deaths among malignancies that affect both men and women in the United States. And tumor budding indicates an aggressive form of CRC and has been associated with poor outcomes in multiple studies. However, the methods of evaluation and the composition of study groups have been highly variable to date and, as such, are difficult to reproduce in clinical practice. The study was published in The American Journal of Surgical Pathology.

Featured Abstracts

Mutations in the Nuclear Bile Acid Receptor FXR Cause Progressive Familial Intrahepatic Cholestasis

doctorNeonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. In a recent study published in Nature Communications, Mayo Clinic researchers reported on four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein, and undetectable liver bile salt export pump (ABCB11) expression. The study results demonstrate a pivotal function for FXR in bile acid homeostasis and liver protection.

Epidemiology of Aquaporin-4 Autoimmunity and Neuromyelitis Optica Spectrum

nmo-featureObjective Neuromyelitis optica (NMO) and its spectrum disorders (NMOSD) are inflammatory demyelinating diseases with a specific biomarker, aquaporin-4-IgG. Prior NMO/NMOSD epidemiological studies are limited by lack of aquaporin-4-IgG seroprevalence assessment, absence of population-based U.S. studies, and under-representation of blacks. To overcome these limitations, Mayo Clinic researchers sought to compare NMO/NMOSD seroepidemiology across two ethnically divergent populations with white (Caucasian) and Martinique (90% black) participants. The study, published in Annals of Neurology, reported the highest prevalence of NMO/NMOSD in any population, estimated it affects 16,000-17,000 in the U.S. (higher than previous predictions), and demonstrated it disproportionately affects blacks.

Published to PubMed This Week

 

Kelley Luedke

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.

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