Mayo Clinic Laboratory and Pathology Research Roundup: October 28

By Samantha Rossi • October 28, 2019

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The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.

Featured Abstract

Functional Characterization of 84 PALB2 Variants of Uncertain Significance.

Inherited pathogenic variants in PALB2 are associated with increased risk of breast and pancreatic cancer. However, the functional and clinical relevance of many missense variants of uncertain significance (VUS) identified through clinical genetic testing is unclear. The ability of patient-derived germline missense VUS to disrupt PALB2 function was assessed to identify variants with potential clinical relevance. Via Genetics in Medicine.

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Published to PubMed This Week

• It Will Take More Than Better Diagnostics to Improve the Care of Women With ACS.
  Journal of the American College of Cardiology
• The role of Magnetic Resonance Elastography in the Diagnosis of Non-Cirrhotic Portal Hypertension.
  Clinical Gastroenterology and Hepatology
• Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.
  Journal of Molecular Biology
• Urinary Reference Intervals for Gadolinium in Individuals without Recent Exposure to Gadolinium-Based Contrast Agents.
  Clinical Chemistry Laboratory Medicine
• Survival Benefit of Neoadjuvant Therapy in Patients with Non-Metastatic Pancreatic Ductal Adenocarcinoma: A Propensity Matching and Intention-To-Treat Analysis.
  Journal of Surgical Oncology
• Combined Tumors in Hematolymphoid Neoplasms: Case Series of Histiocytic and Langerhans Cell Sarcomas Arising From Low-Grade B-Cell Lymphoma.
  Clinical Pathology
• A Structured Histopathology-Based Analysis of Surgical Outcomes in Chronic Rhinosinusitis with and without Nasal Polyps.
  Laryngoscope Investigating Otolaryngology
• The Beat Goes On: Historical Perspectives and Future Directions of Cardiac Transplantation: A Summary of the Society for Cardiovascular Pathology's 2019 Companion Meeting.
  Cardiovascular Pathology
• Dual Roles for the TSPYL Family in Mediating Serotonin Transport and the Metabolism of Selective Serotonin Reuptake Inhibitors in MDD Patients.
  Clinical Pharmacology and Therapeutics
• Coiled-Coil and C2 Domain-Containing Protein 1A (CC2D1A) Promotes Chemotherapy Resistance in Ovarian Cancer.
  Frontiers in Oncology
• Bone Marrow Findings in Erdheim-Chester Disease: Increased Prevalence of Chronic Myeloid Neoplasms.
  Haematologic
• Mesenchymal Hamartoma in Children: A Diagnostic Challenge.
  Case Reports in Pediatrics
• Continuous Improvement of Blood Redraw Rates in the Emergency Department: A 5-Year Journey.
  Journal of Applied Laboratory Medicine

Samantha Rossi

Samantha Rossi is a Digital Marketing Manager at Mayo Clinic Laboratories. She supports marketing strategies for product management and specialty testing. Samantha has worked at Mayo Clinic since 2019.