Mayo Clinic Laboratory and pathology research roundup: May 30

By Samantha Rossi • May 30, 2023

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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

Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.

The diagnosis of germline predisposition to myeloid neoplasms (MN) secondary to DDX41 variants is currently hindered by the long latency period, variable family histories and the frequent occurrence of DDX41 variants of uncertain significance (VUS). We reviewed 4,524 consecutive patients who underwent targeted sequencing for suspected or known MN and analyzed the clinical impact and relevance of DDX41VUS in comparison to DDX41path variants. 

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Published to PubMed This Week

• Frontotemporal hypometabolism in medication-induced tardive dyskinesia.
  Neurology
• Eculizumab for the treatment of glycine receptor antibody associated stiff-person syndrome.
  Journal of Neurology
• Proteomic and clinicopathologic assessment of penile amyloidosis : A single institutional review of 12 cases.
  American Journal of Clinical Pathology
• Relationship between BCL2 mutations and follicular lymphoma outcome in the chemoimmunotherapy era.
  Blood Cancer Journal
• Epigenomics may begin to explain in vitro differential response to hypomethylating agents in MMR-D hypermethylated endometrial cancer.
  Epigenomics
• Current regulatory landscape for viral point-of-care testing in the United States.
  Journal of Clinical Virology
• Clinical outcomes and prognostic factors in triple-negative invasive lobular carcinoma of the breast.
  Breast Cancer Research and Treatment
• Unique morphologic findings in the liver after stereotactic radiation for cholangiocarcinoma.
  American Journal of Surgical Pathology
• Stiff person spectrum disorder diagnosis, misdiagnosis, and suggested diagnostic criteria.
  Annals of clinical and translational neurology
  

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.